Inherited Cancer-Predisposing Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: INH023 MIFTS: 53	Inherited Cancer-Predisposing Syndrome Categories: Cancer diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs Expand all tables

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Aliases & Classifications for Inherited Cancer-Predisposing Syndrome

MalaCards integrated aliases for Inherited Cancer-Predisposing Syndrome:

Name: Inherited Cancer-Predisposing Syndrome ⁵⁸

Hereditary Cancer-Predisposing Syndrome ²⁹ ⁶

Classifications:

MalaCards categories:
Global: Rare diseases Cancer diseases

See all MalaCards categories (disease lists)

External Ids:

Orphanet ⁵⁸ ORPHA140162

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Summaries for Inherited Cancer-Predisposing Syndrome

MalaCards based summary : Inherited Cancer-Predisposing Syndrome, also known as hereditary cancer-predisposing syndrome, is related to fanconi anemia, complementation group d1 and bap1 tumor predisposition syndrome. An important gene associated with Inherited Cancer-Predisposing Syndrome is PALB2 (Partner And Localizer Of BRCA2), and among its related pathways/superpathways are Gene Expression and Cell Cycle, Mitotic. The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include breast, prostate and colon, and related phenotypes are Decreased viability and Decreased viability

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Related Diseases for Inherited Cancer-Predisposing Syndrome

Diseases related to Inherited Cancer-Predisposing Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 118)

#	Related Disease	Score	Top Affiliating Genes
1	fanconi anemia, complementation group d1	32.8	PALB2 FANCC BRIP1 BRCA2 BRCA1
2	bap1 tumor predisposition syndrome	32.7	PALB2 BRCA2 BAP1
3	b-lymphoblastic leukemia/lymphoma with t	10.6	PALB2 BMPR1A APC
4	b-lymphoblastic leukemia/lymphoma with hyperdiploidy	10.6	BRCA2 BRCA1 APC
5	fallopian tube clear cell adenocarcinoma	10.6	BRCA2 BRCA1
6	ruvalcaba syndrome	10.6	BRCA2 BRCA1 BMPR1A
7	familial ovarian cancer	10.6	BRIP1 BRCA2 BRCA1
8	synchronous bilateral breast carcinoma	10.6	BRCA2 BRCA1 ATM
9	breast-ovarian cancer, familial 1	10.6	PALB2 BRCA2 BRCA1
10	mediastinum liposarcoma	10.6	CDKN2A ATM
11	fallopian tube disease	10.6	PALB2 BRCA2 BRCA1
12	female breast cancer	10.6	PALB2 BRCA2 BRCA1 ATM
13	wilms tumor predisposition	10.6	DICER1 BRCA2 BLM
14	adenoma	10.6	CDKN2A CDH1 AXIN2 APC AIP
15	fanconi anemia, complementation group n	10.6	PALB2 FANCC BRIP1 BRCA2
16	ovary transitional cell carcinoma	10.6	BRCA2 BRCA1
17	cervical adenoma malignum	10.6	PALB2 CHEK2 BRCA2 BRCA1 ATM
18	dysplastic nevus syndrome	10.6	PALB2 CDKN2A BRCA2 BRCA1 ATM
19	lobular neoplasia	10.6	CDH1 BRCA2 BRCA1
20	diffuse gastric cancer	10.6	PALB2 CDH1 ATM
21	t-cell prolymphocytic leukemia	10.6	CHEK2 CDKN1B C11orf65 ATM
22	peritoneum cancer	10.6	PALB2 CDKN2A BRCA2 BRCA1 BAP1
23	tracheoesophageal fistula with or without esophageal atresia	10.6	PALB2 FANCC BRIP1 BRCA2 AOPEP
24	thoracic benign neoplasm	10.6	CDH1 BRCA2 BRCA1
25	fallopian tube carcinoma	10.6	PALB2 CDKN1B BRCA2 BRCA1 BARD1
26	breast benign neoplasm	10.6	CDH1 BRCA2 BRCA1
27	retinal cancer	10.6	CDKN2A CDKN1B ATM APC
28	colonic benign neoplasm	10.6	CDH1 AXIN2 APC
29	colorectal adenocarcinoma	10.6	CDKN2A CDH1 ATM APC
30	nijmegen breakage syndrome	10.6	CHEK2 BRCA1 BLM ATM
31	fanconi anemia, complementation group j	10.6	PALB2 FANCC BRIP1 BRCA2 BRCA1
32	diffuse midline glioma, h3 k27m-mutant	10.6	CHEK2 BRIP1 BRCA2
33	ovary adenocarcinoma	10.6	CDKN2A CDH1 BRCA2 BRCA1
34	familial colorectal cancer	10.6	CHEK2 CDH1 BRCA2 BLM APC
35	malignant peritoneal mesothelioma	10.6	CDKN2A BAP1
36	basaloid lung carcinoma	10.6	BRCA2 BRCA1
37	pre-malignant neoplasm	10.6	CDKN2A CDH1 BRCA2 BRCA1
38	cell type benign neoplasm	10.6	CDKN2A CDH1 APC AIP
39	ovarian cystadenocarcinoma	10.6	CDKN2A BRCA2 BRCA1
40	cancerophobia	10.6	BRCA2 BRCA1
41	in situ carcinoma	10.6	CDKN2A CDH1 BRCA2 BRCA1
42	bloom syndrome	10.6	FANCC BRCA2 BRCA1 BLM ATM
43	epstein-barr virus-associated gastric carcinoma	10.6	CDKN2A CDH1
44	telangiectasis	10.6	CHEK2 BMPR1A ATM
45	nosophobia	10.6	BRCA2 BRCA1
46	vulvar intraepithelial neoplasia	10.6	CDKN2A CDH1
47	uterine corpus cancer	10.6	CDKN2A BRCA2 BRCA1
48	ductal carcinoma in situ	10.6	CDKN2A CDH1 BRCA2 BRCA1
49	malignant ovarian surface epithelial-stromal neoplasm	10.6	CDKN2A CDH1 BRCA2 BRCA1 APC
50	ovary epithelial cancer	10.5	CDKN2A CDH1 BRCA2 BRCA1 APC

Graphical network of the top 20 diseases related to Inherited Cancer-Predisposing Syndrome:

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Symptoms & Phenotypes for Inherited Cancer-Predisposing Syndrome

GenomeRNAi Phenotypes related to Inherited Cancer-Predisposing Syndrome according to GeneCards Suite gene sharing:

²⁶ (show all 27)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00221-A-1	10.82	BMPR1A CDH1 CDKN1B CDKN2A
2	Decreased viability	GR00221-A-2	10.82	BMPR1A BRCA1 CHEK2
3	Decreased viability	GR00221-A-3	10.82	ATM BMPR1A BRCA1 CDKN2A CHEK2
4	Decreased viability	GR00221-A-4	10.82	ATM BMPR1A CDKN2A CHEK2
5	Decreased viability	GR00240-S-1	10.82	AIP PALB2
6	Decreased viability	GR00249-S	10.82	APC BARD1 BMPR1A BRCA2 FANCC
7	Decreased viability	GR00301-A	10.82	BRCA1 CDH1
8	Decreased viability	GR00342-S-2	10.82	CHEK2
9	Decreased viability	GR00381-A-1	10.82	C11orf65
10	Decreased viability	GR00386-A-1	10.82	BLM BRIP1
11	Decreased viability	GR00402-S-2	10.82	CDH1 FANCC PALB2
12	Decreased homologous recombination repair frequency	GR00151-A-1	10.33	BARD1 BRCA1
13	Decreased homologous recombination repair frequency	GR00151-A-2	10.33	BRCA1
14	Decreased homologous recombination repair frequency	GR00236-A-1	10.33	BARD1 BRCA1 BRCA2 PALB2
15	Decreased homologous recombination repair frequency	GR00236-A-2	10.33	BARD1 BRCA1 BRCA2 PALB2
16	Decreased homologous recombination repair frequency	GR00236-A-3	10.33	BARD1 BRCA1 BRCA2 PALB2
17	Increased viability with MLN4924 (a NAE inhibitor)	GR00250-A-1	10.23	ATM BARD1 BLM CHEK2
18	Increased viability with MLN4924 (a NAE inhibitor)	GR00250-A-2	10.23	ATM BARD1 BLM BRCA1 BRIP1 CDKN2A
19	Increased viability with MLN4924 (a NAE inhibitor)	GR00250-A-3	10.23	ATM BARD1 BLM BRCA1 BRCA2 BRIP1
20	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-1	10.22	BARD1 BRCA1 BRCA2 CDKN2A PALB2
21	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-2	10.22	ATM BLM BRCA1 BRCA2 CDKN2A PALB2
22	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-3	10.22	ATM BARD1 BLM BRCA1 BRCA2 CHEK2
23	Increased ionizing radiation sensitivity	GR00232-A-1	9.72	ATM BARD1 BRCA1 BRCA2 CDH1
24	Decreased viability with cisplatin	GR00101-A-4	9.67	BARD1 BRCA1 BRCA2 BRIP1
25	Decreased viability after ionizing radiation	GR00232-A-2	9.58	ATM BRCA1 BRCA2
26	Synthetic lethal with cisplatin	GR00101-A-1	9.46	BARD1 BRCA1 BRCA2 BRIP1
27	Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation	GR00016-A	9.02	APC AXIN2 BARD1 BRCA1 BRCA2

MGI Mouse Phenotypes related to Inherited Cancer-Predisposing Syndrome:

⁴⁶ (show all 18)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	10.52	AIP APC ATM AXIN2 BAP1 BARD1
2	endocrine/exocrine gland	MP:0005379	10.44	AIP APC ATM AXIN2 BAP1 BARD1
3	cardiovascular system	MP:0005385	10.42	AIP APC ATM AXIN2 BAP1 BLM
4	embryo	MP:0005380	10.42	AIP APC ATM AXIN2 BAP1 BARD1
5	growth/size/body region	MP:0005378	10.4	AIP APC ATM AXIN2 BAP1 BARD1
6	homeostasis/metabolism	MP:0005376	10.34	AIP APC ATM BAP1 BARD1 BMPR1A
7	integument	MP:0010771	10.33	AIP APC ATM AXIN2 BAP1 BLM
8	mortality/aging	MP:0010768	10.31	AIP APC ATM AXIN2 BAP1 BARD1
9	hematopoietic system	MP:0005397	10.29	APC ATM BAP1 BLM BMPR1A BRCA1
10	immune system	MP:0005387	10.29	APC ATM BAP1 BLM BMPR1A BRCA1
11	neoplasm	MP:0002006	10.27	AIP APC ATM BAP1 BARD1 BLM
12	digestive/alimentary	MP:0005381	10.16	APC BAP1 BMPR1A BRCA1 BRCA2 CDH1
13	nervous system	MP:0003631	10.13	APC ATM AXIN2 BARD1 BMPR1A BRCA1
14	limbs/digits/tail	MP:0005371	10.03	APC AXIN2 BMPR1A BRCA1 BRCA2 BRIP1
15	normal	MP:0002873	9.85	AOPEP APC AXIN2 BARD1 BLM BMPR1A
16	no phenotypic analysis	MP:0003012	9.8	AXIN2 BAP1 BLM CDH1 CDKN1B CDKN2A
17	reproductive system	MP:0005389	9.5	APC ATM AXIN2 BAP1 BARD1 BMPR1A
18	pigmentation	MP:0001186	9.43	APC BMPR1A BRCA1 BRIP1 CDKN1B CDKN2A

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Drugs & Therapeutics for Inherited Cancer-Predisposing Syndrome

Drugs for Inherited Cancer-Predisposing Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

#		Name	Status	Phase	Clinical Trials	Cas Number	PubChem Id
1		Pharmaceutical Solutions

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	InheRET: A Software-as-a-Service (SaaS) Solution to Identifying Patients at Increased Risk for Hereditary Disease	Enrolling by invitation	NCT04510896

Search NIH Clinical Center for Inherited Cancer-Predisposing Syndrome

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Genetic Tests for Inherited Cancer-Predisposing Syndrome

Genetic tests related to Inherited Cancer-Predisposing Syndrome:

#	Genetic test	Affiliating Genes
1	Hereditary Cancer-Predisposing Syndrome ²⁹	PALB2

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Anatomical Context for Inherited Cancer-Predisposing Syndrome

MalaCards organs/tissues related to Inherited Cancer-Predisposing Syndrome:

⁴⁰

Breast, Prostate, Colon, Pituitary, Myeloid, Ovary, Thyroid

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Publications for Inherited Cancer-Predisposing Syndrome

Articles related to Inherited Cancer-Predisposing Syndrome:

(show top 50) (show all 4913)

#	Title	Authors	PMID	Year
1	Assessment of structurally and functionally high-risk nsSNPs impacts on human bone morphogenetic protein receptor type IA (BMPR1A) by computational approach. ⁶ ⁶¹	Islam MJ...Reza MA	30884445	2019
2	Performance characteristics of screening strategies to identify Lynch syndrome in women with ovarian cancer. ⁶	Kim SR...Ferguson SE	32809219	2020
3	Functional Categorization of BRCA1 Variants of Uncertain Clinical Significance in Homologous Recombination Repair Complementation Assays. ⁶	Bouwman P...Jonkers J	32546644	2020
4	Prevalence of pathogenic variants in DNA damage response and repair genes in patients undergoing cancer risk assessment and reporting a personal history of early-onset renal cancer. ⁶	Hartman TR...Arora S	32782288	2020
5	Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2. ⁶	Mesman RLS...Vreeswijk MPG	32398771	2020
6	Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population. ⁶	Steinberg-Shemer O...Tamary H	31558676	2020
7	Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype. ⁶	Paperna T...Baris Feldman H	30858171	2020
8	A Germline CHEK2 Mutation in a Family with Papillary Thyroid Cancer. ⁶	Zhao Y...Miao G	32041497	2020
9	BRIP1, RAD51C, and RAD51D mutations are associated with high susceptibility to ovarian cancer: mutation prevalence and precise risk estimates based on a pooled analysis of ~30,000 cases. ⁶	Suszynska M...Kozlowski P	32359370	2020
10	Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome. ⁶	Drost M...de Wind N	31965077	2020
11	Evaluation of Germline Genetic Testing Criteria in a Hospital-Based Series of Women With Breast Cancer. ⁶	Yadav S...Couch FJ	32125938	2020
12	Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome. ⁶	Santonocito C...Capoluongo E	32438681	2020
13	Founder BRCA1/BRCA2/PALB2 pathogenic variants in French-Canadian breast cancer cases and controls. ⁶	Behl S...Foulkes WD	32300229	2020
14	Germline Pathogenic Variants in 7636 Japanese Patients With Prostate Cancer and 12 366 Controls. ⁶	Momozawa Y...Kubo M	31214711	2020
15	Reclassification of a frequent African-origin variant from PMS2 to the pseudogene PMS2CL. ⁶	Chong AS...Saskin A	31916644	2020
16	Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort. ⁶	Li H...Goldgar DE	31853058	2020
17	Clinical report and biochemical analysis of a patient with fumarate hydratase deficiency. ⁶	Grocott O...Berkmen MB	31746132	2020
18	A comprehensive analysis of candidate genes in familial pancreatic cancer families reveals a high frequency of potentially pathogenic germline variants. ⁶	Earl J...Carrato A	32113160	2020
19	Inherited DNA Repair Gene Mutations in Men with Lethal Prostate Cancer. ⁶	Rantapero T...Wiklund F	32183364	2020
20	Comprehensive profiling of BRCA1 and BRCA2 variants in breast and ovarian cancer in Chinese patients. ⁶	Gao X...Song L	31825140	2020
21	Genetic Variants Detected Using Cell-Free DNA from Blood and Tumor Samples in Patients with Inflammatory Breast Cancer. ⁶	Winn JS...Fernandez SV	32075053	2020
22	MSH6 immunohistochemical heterogeneity in colorectal cancer: comparative sequencing from different tumor areas. ⁶	Chen W...Frankel WL	31783044	2020
23	Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma-paraganglioma. ⁶	Bayley JP...Neumann HPH	31492822	2020
24	Prevalence of Inherited Mutations in Breast Cancer Predisposition Genes among Women in Uganda and Cameroon. ⁶	Adedokun B...Huo D	31871109	2020
25	Clinical Evaluation of BRCA1/2 Mutation in Mexican Ovarian Cancer Patients. ⁶	Gallardo-Rincon D...Cetina-Perez L	31869745	2020
26	Integration of Comprehensive Genomic Analysis and Functional Screening of Affected Molecular Pathways to Inform Cancer Therapy. ⁶	Vasmatzis G...Anastasiadis PZ	31685261	2020
27	Identification of germline pathogenic variants in DNA damage repair genes by a next-generation sequencing multigene panel in BRCAX patients. ⁶	Rodriguez-Balada M...Guma J	31786208	2020
28	Spectrum and clinical relevance of PALB2 germline mutations in 7657 Chinese BRCA1/2-negative breast cancer patients. ⁶	Wu Y...Xie Y	31768816	2020
29	Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population. ⁶	da Costa E Silva Carvalho S...Silva WA	32039725	2020
30	Universal Tumor DNA BRCA1/2 Testing of Ovarian Cancer: Prescreening PARPi Treatment and Genetic Predisposition. ⁶	Vos JR...OPA Working Group	31076742	2020
31	A Clinicopathologic and Molecular Analysis of Fumarate Hydratase-deficient Renal Cell Carcinoma in 32 Patients. ⁶	Lau HD...Kao CS	31524643	2020
32	Fumarate hydratase FH c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma. ⁶	Zhang L...Offit K	31444830	2020
33	Correction: Novel Insight into Mutational Landscape of Head and Neck Squamous Cell Carcinoma. ⁶	Gaykalova DA...Sun W	32401780	2020
34	One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene. ⁶	Fostira F...Yannoukakos D	31300551	2020
35	Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1. ⁶	Koczkowska M...Messiaen LM	31595648	2020
36	Clinicopathologic features and genetic characteristics of the BRCA1/2 mutation in Turkish breast cancer patients. ⁶	Cecener G...Tasdelen I	31706072	2020
37	Combined Tumor Sequencing and Case-Control Analyses of RAD51C in Breast Cancer. ⁶	Li N...Campbell IG	30949688	2019
38	Incorporation of semi-quantitative analysis of splicing alterations for the clinical interpretation of variants in BRCA1 and BRCA2 genes. ⁶	Montalban G...Gutierrez-Enriquez S	31343793	2019
39	Characterization of splice-altering mutations in inherited predisposition to cancer. ⁶	Casadei S...Walsh T	31843900	2019
40	Molecular Basis of Inherited Colorectal Carcinomas in the Macedonian Population: An Update. ⁶	Staninova-Stojovska M...Dimovski AJ	31942411	2019
41	The spectrum of mutations predisposing to familial breast cancer in Poland. ⁶	Cybulski C...Polish Hereditary Breast Cancer Consortium	31173646	2019
42	Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort. ⁶	Melloni G...Saletti V	31766501	2019
43	Functional interrogation of Lynch syndrome-associated MSH2 missense variants via CRISPR-Cas9 gene editing in human embryonic stem cells. ⁶	Rath A...Heinen CD	31237724	2019
44	Germline mutations in Thai patients with nonmucinous epithelial ovarian cancer. ⁶	Manchana T...Teerapakpinyo C	31815095	2019
45	A Family With a Carotid Body Paraganglioma and Thyroid Neoplasias With a New SDHAF2 Germline Variant. ⁶	Wolf KI...Else T	31687641	2019
46	Recurrent moderate-risk mutations in Finnish breast and ovarian cancer patients. ⁶	Nurmi A...Nevanlinna H	30927251	2019
47	BRCA mutation frequency and clinical features of ovarian cancer patients: A report from a Chinese study group. ⁶	Bu H...Kong B	31411802	2019
48	Genetic and clinical characterization of BRCA-associated hereditary breast and ovarian cancer in Navarra (Spain). ⁶	Ruiz de Sabando A...Ramos-Arroyo MA	31771539	2019
49	The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries. ⁶	Laitman Y...Friedman E	31209999	2019
50	The NCCN Criterion "Young Age at Onset" Alone is Not an Indicator of Hereditary Breast Cancer in Iranian Population. ⁶	Ebrahimi E...Akbari MR	31451522	2019

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Genes for Inherited Cancer-Predisposing Syndrome

Genes related to Inherited Cancer-Predisposing Syndrome (80 elite genes):

(show top 50) (show all 82)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	PALB2	Partner And Localizer Of BRCA2	Protein Coding	525	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Genetic Tests ²⁹ Likely pathogenic ⁶	25330149 29566657 30287823 (more) 23448497 26283626 26534844 21618343 25099575 25575445 27469594 17200668 30883245 18302019 19264984 19609323 17200671 23341105 25452441 26845104 28281021 26681312 27433846 21165770 24415441 24870022 27553368 22006311 23977390 24240112 29368341 21932393 22692731 25428789 21365267 25525159 28152038 28779002 21285249 22310028 24136930 25959805 28724667 29052111 29753700 21409391 29922827 25356972 27878467 29752822 17420451 25186627 27783279 27798748 28423363 28486781 29338689 29915322 23935836 24549055 29431189 20852946 25619955 23110154 25980754 28194609 26641009 23471749 25225577 28864920 28528518 29470806 30067863 23112754 26990772 17200672 28319063 21184274 24556926 27624329 20122277 20412113 20582465 24061862 26270727 26720728 27038244 27099641 27106063 28158555 28279176 22241545 26898890 27356891 28008555 29360161 23935381 19333784 20858716 26757417 28825143 28135145 26023681 29785153 26556299 31159747 27631815 25794774 26315354 30720863 25666743 28828701 18446436 19863560 21947752 30322717 28495237 19383810 24153426 26640152 27595995 24763289 29909963 24556621 26786923 30254378 31428676 32125938 26489409 28767289 28709830 26564480 31768816 27153395 28858227 30306255 27616075 24448499 29101607 30630526 30890586 28664506 31843900 30255452 23334666
2	AIP	Aryl Hydrocarbon Receptor Interacting Protein	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶	12213383 16728643 17244780 (more) 17360484 18381572 20354355 21208107 23321498 23743763 27033541 27650164 5320367 20506337 22319033 26186299 28634279 29729370 21348957 25093619 29440248
3	AOPEP	Aminopeptidase O (Putative)	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶	17924555 26681312 28425259 (more) 8103176 8844212 8882868 29753700
4	APC	APC Regulator Of WNT Signaling Pathway	Protein Coding	425	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Likely pathogenic ⁶	23561487 26840078 28018803 (more) 28782241 15108286 16088911 17486639 20223039 20685668 21643010 23159591 9101302 9375853 10768871 11247896 19793053 21779980 10938175 11159880 16228836 23576677 23896379 26314409 26421687 27146957 27153395 9973276 18433509 24735542 26300997 25074465 8968744 15459959 17489848 10083733 10470088 17411426 19029688 19531215 20924072 26446593 8187091 8844222 12901799 1338764 30897307 8162022 9950360 8990002 1324223 26681312 29122597 8730280 12010888 25525159 8381580 15300853 9585611 16478792 20434453 15951963 27623068 24599579 10077047 10982189 12721244 22864254 8544194 11317365 15108288 10669993 29489754 29753700 10094547 30256826 24549056 28533537 19444466 16944273 17169185 20564245 21142386 25604157 21813476 22027476 27087319 27343414 29112017 29968043 8111410 28423518 9298819 1319838 16134147 12007223 22941256 29954149 9603437 11001924 1316610 22135120 27081525 8381579 9824584 14729851 22987206 19768578 11768389 14961559 17064931 8395941 15024739 20333795 12173026 17963004 19331226 7853377 11960572 19036155 21110124 29368261 8103406 21653199 27574554 26625971 10646887 12581900 25832318 8252630 8118461 19196998 14633595 24750145 26819281 30696621 7833936 20649969 12702169 23575299 23715166 28185118 1651563 21859464 27000756 29901124 22425061 23460355 23484150 25590978 26207792 26690363 28127413 10598803 21858148 23185543 21078199 11933206 17135276 19336753 10090483 24518971 27158207 11839722 23244118 9341879 17604324 16883523 17230660 27705013 28445943 10440612 16676398 16292097 15771908 26023681 23906606 24664542 26422110 29406563 12357334 11707392 18166348 18387968 22431159 9669663 20682701 26845104 10811618 18199528 24055113 25637381
5	ATM	ATM Serine/Threonine Kinase	Protein Coding	425	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Likely pathogenic ⁶	10330348 16266405 21833744 (more) 22585167 8808599 9443866 10817650 22649200 23091097 24682267 29922827 27153395 9792409 16941484 17124347 23322442 25077176 25374739 10425038 12673797 12815592 21445571 22213089 25525159 27664052 28497333 19691550 27083775 9887333 29101607 17910737 25037873 19770270 19781682 20346647 21787400 9450906 8845835 23946315 29360550 12552559 10677309 17393301 20308662 23807571 26757417 9043869 25614872 15843990 26693373 10873394 22071889 28724667 1632451 22146522 28281021 22345219 23143971 25040471 30504431 18321536 28008555 26296696 28767289 21933854 28779002 22927201 21965147 27599564 9497252 26556299 15101044 16380133 18634022 22529920 23640770 29335925 30607632 10980530 26681312 27433846 9463314 10234507 12497634 26778106 28152038 8968760 25793145 9682216 17985259 21792198 26270727 27484032 8789452 11298136 29486991 26022348 28195393 15880721 18807267 26380989 26506520 27449771 28652578 8755918 24512911 27276934 27978560 19535770 26182300 28126470 29360161 29522266 29945567 30067863 30549301 24954719 30287823 9600235 16832357 21459046 26220245 12810666 14695534 15039971 18431795 22527104 23454770 24405665 24935205 26439923 24556621 26822949 19705055 22006793 11756177 25625042 20153123 26845104 27159176 24090759 27616075 28135145 29478780 9872980 18066086 12745884 15390180 22017321 25502423 8659541 9150358 16411093 9711876 15498871 27873105 20678261 25428789 29753700 28182994 27553368 29659569 10864201 21665257 10416970 26677768 30389154 31843900 26094658 19431188 20966255 21150274 26628246 29371908 9450874 9733514 22520355 27989354 29368341 26098866 26296701 21778326 29958926 11382771 8797579 8923007 19404735 29596542 29271107 17540590 15196260 26483394 20717907 23360865 25877891 23632773 29600275 23211698 24506781 28486781 11821961 26976419 25186627 28843361 29506128 25503501 24733792 27528516 27595995 27798748 27988859 29719442 29555771 23612382 24789685 12655570 30482293 24568663 10534763 25330149 8698354 12883528 26786923 26896183 28125075 29555025 29752822 9259193 11897822 17166884 30927251 31921190 20840352 31050087 28716242 28825054 28873162 28875981 31159747 17376192 29868112 28956312 29909963 21893220 16189143 30306255 10767628 27871447 28423363 18560558 30426508 28170084 28657667 29888287 28139868 15054841 30819809 23509889 23566627 9521587 11805335 21354641 25122203 25957637 30322717 30579816 17389389 20945614 9892178 18573109 16014569 26898890 30303537 30128536 7792600 28687971 12072877 21164480 10397742 12149228 12697903 17968022 23585524 30620386 23667852 27039262 9244351 11889466 19773425 15164409 15643608 19823873 32183364
6	AXIN2	Axin 2	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶	30322717
7	BAP1	BRCA1 Associated Protein 1	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶	28560743 29754391 21874000 (more) 22935333 24243779 25889843 27718540 26774355 26409435 26683624 27123562 29761599 25687217 26556299 26719535 28793149 27749792 30414346 30477459 31382694 29753057 23341325 22545102 27181379 25501392 28900502
8	BARD1	BRCA1 Associated RING Domain 1	Protein Coding	425	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Likely pathogenic ⁶	26681312 28709830 26315354 (more) 23334666 26010302 28174632 28724667 20077502 25452441 21344236 25330149 25980754 25994375 28008555 28726808 26534844 24549055 29292755 15040442 17550235 28281021 27433846 29922827 27083178 25428789 25503501 26786923 28873162 29978187 28152038 29752822 31036035 14578343 15782130 18842000
9	BLM	BLM RecQ Like Helicase	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶	17407155 21815139 23225144 (more) 23552953 26822949 27153395 12702560 15726604 24096176 29056561 29506128 23028338 26358404 29753700 23928670 27356891 28125078 29098565 29478780 30138938 24932421 25525159 26247052 30871259 10069810 11399766 7585968 10812332 17878217 24733792 26786923
10	BMPR1A	Bone Morphogenetic Protein Receptor Type 1A	Protein Coding	425	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Likely pathogenic ⁶	11536076 17873119 25525159 (more) 23399955 15235019 12136244 16436638 10881198 28152038 18823382 23433720 12417513 18178612 11381269 30884445 17325551 20845481 15064755
11	BRCA1	BRCA1 DNA Repair Associated	Protein Coding	425	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Likely pathogenic ⁶	10644434 28123851 29297111 (more) 29446198 29752822 29805665 30209399 31209999 11802209 28324225 18627636 26306726 10804288 11149425 16267036 22434525 23536787 24010542 29310832 31300551 23096355 24312913 31488070 10200350 16905680 22762150 24549055 25884701 27083178 27446417 11320250 15235020 22752604 25428789 25823446 28664506 15382066 21232165 22923021 28740454 29907814 9663595 23683081 28024868 9145677 17305420 17308087 21990134 23199084 19826428 21120943 21895635 24448499 26689913 18489799 7611277 12827452 16403807 19543972 21203900 24489791 27272900 11573085 12732733 18951446 20103620 21725363 23161852 27124784 30219179 30474649 30696104 12100744 9510469 20373018 21614564 23175448 25452441 26187060 26848529 27741520 27836010 8808710 10479726 22505045 22703879 23451180 23940062 25556971 26046366 27328445 28423363 30128899 30606148 31131967 9333265 22776961 24719479 24884479 8723683 9150151 9197534 29470806 11597388 10486320 18006916 22798144 29093764 30630526 30675319 10595255 15026808 16619214 17924331 20215541 21673748 23348723 24667779 21922593 28724667 10874312 20859677 26402875 27393621 28176296 30309222 22006311 25525159 9808526 18182601 20437199 21520273 20858050 21702907 24504028 10188893 11436123 15955690 23192404 26681312 9361038 9667259 16644204 26287763 32125938 18680205 18951461 19493677 20737206 21447777 25782689 18645608 20683152 12181777 25863477 8764110 9150149 17018160 8968102 17257844 18215206 18821011 19619314 27062684 27163896 28199346 8875986 15365993 22217648 28831036 27469594 31451522 12920083 20104584 20665887 24728189 28604461 16998791 8807330 17688236 7894492 20516115 12204006 26787237 16528604 20614009 21324516 24528374 26779294 27425403 27433846 12491499 20609467 15146557 15340362 16683254 17221156 21989927 22144684 22160602 23479189 23961350 25682074 26083025 26183948 27257965 28111427 29020732 29339979 29409476 30287823 11606101 22811390 28503720 29486991 21993507 23704984 29368341 26014432 27553291 17761984 25480878 27566247 29936257 11720839 15477862 28637432 29371908 11102978 17148771 29086229 9667663 16818684 17851763 21553119 11595708 15168169 19016756 24249303 25802882 29348823 29360550 7627958 10340909 30199306 30702160 30825404 25085752 8571953 11949836 16140926 24916970 25371446 25628955 28127413 16227521 21990165 27153395 28477318 29433453 30067863 25716084 26246475 28985766 29088781 25948282 26219728 29335924 7837387 18783588 22753008 23397983 10528853 10699917 16455195 24556621 28993434 30078507 8531967 16287141 19656164 22382806 22970155 25834617 28888541 29240602 30720243 22401979 23341105 25652403 15533909 21735045 21769658 23458327 24013928 24797986 25880076 26010302 22711857 23772696 12698193 26884819 23635950 29785153 23289006 29506128 11149413 12955716 14574155 16211554 16397213 21559243 11376024 19491284 24372583 26296701 22874498 27208206 12393792 20727672 23110154 8554067 31161121 31706072 11157798 15923272 17591843 19404736 19770520 21063910 22044689 23867111 18042939 22333603 27303907 27831900 28008555 9150171 7493024 11389159 21394826 21965345 27914478 21473589 24055113 25472942 28265380 29712865 30103829 24218521 7894493 22535016 28205045 29453630 29492181 29855275 7606717 10196379 26720728 28493033 28528518 27081505 8933332 7894491 18036263 22889855 28490613 10090881 15994883 16168118 21990299 22588877 23401782 24737347 24830819 26440929 26543556 27283172 27489289 27767231 27819678 28390335 28526081 28655807 30430080 31013702 31029168 31076742 31159747 31454914 32075053 7550349 11896095 18779604 8651293 9042909 17493881 10615237 11391658 11504767 18465347 22516946 23747895 24307375 8595428 8644702 9836472 11466700 26718727 29335925 29478780 23633455 25256238 26026974 29684080 30040829 11462242 18228134 18980973 24618965 27463008 21751003 16949048 17100994 30257646 16030099 19818148 22498944 9042907 10595257 11334729 26350514 9616287 10480351 22739995 10502781 26911350 10441573 15024741 28184945 28294317 31467961 31815095 15642173 16515586 18704682 20614180 30415210 22034289 23239986 18662409 28781887 30765603 31144781 19912264 12124814 12955719 9760198 12960223 12585668 16280041 16615107 11030418 25971625 18159056 29337092 14732925 18824701 27157322 16616110 14648706 30207098 28715532 29053726 29176636 15146556 23885733 10952774 25103822 7663517 19353265 29487695 12601471 9649133 18403564 21305653 23034506 11179017 11013445 11102986 27974384 10464601 11137998 18391021 29346284 9497265 26622941 11773283 16234499 16457150 26577449 10755399 11844822 8533757 19499246 23317271 12673801 17997147 26976419 12879478 9150154 12048272 12491487 20960228 25248401 18559594 26833046 10406662 18693280 25281711 21523855 24137399 31771539 9391879 12759930 23893897 25066507 19629752 21989022 25724305 26541979 26997744 27376475 26404129 9544766 10408690 29922827 21204799 22486351 26915939 26845104 11920621 19298662 9452076 10090482 18176857 10880552 8595420 11463009 24454456 28664449 30014164 19471317 10790221 24578176 16826315 19377795 22430266 10866029 24660075 17925560 29681614 30093976 30875412 30262796 22072316 27798748 20234365 25633036 26687385 12566964 12937835 23982851 26745875 14647443 21709188 25366421 29770616 28281021 31869745 20378548 9452084 24961674 19329713 20700108 29614442 27082205 11109172 20875879 21309043 11748848 10951344 12442265 12112655 15254424 19370767 24285858 15290653 23233716 28283652 28959512 29261187 30646163 28486781 11938448 22425665 16912212 18284688 18752448 10811118 15172985 25426409 28692638 30720863 30972954 11428389 23320992 25777348 22009639 23884708 17233897 16261400 18567944 27553368 28678739 25637381 28767289 29309945 17591842 18679828 11556835 23469205 10634513 25070656 11139249 14973102 15951958 28392550 28591191 10459348 10686936 26250392 15117986 27658390 28288110 28364669 32546644 12505256 20051372 26733283 25236687 9699640 22652532 11526114 20180971 27882536 29360161 28152038 25186627 22864640 25330149 25418591 27488874 10923033 11263928 23374397 25896959 30203341 20838878 26028024 29021639 26822237 18512148 18445692 20020529 30101128 24729269 15955237 22469508 22486713 26843898 29565420 18312450 20513136 23210696 23725378 26052229 16284991 16685647 19340607 16931905 25940717 23269703 24516540 11710890 15217508 21156238 25476495 14746861 22010008 24131973 18757339 25814778 24240112 12815598 12915465 19287957 15728167 26023681 28145423 30322717 20579331 22277901 29937436 27616075 29483665 10508480 22856468 10952777 17351952 17545591 18528753 16875939 12203997 14574011 19656415 28918466 26580448 27165220 27194814 30350268 14569140 26425718 14517958 15133502 17020472 19452558 20522429 27495310 11039575 14684699 28802053 30175445 9192828 9585608 12453858 22366370 30968603 15066328 14507240 14513821 10359546 11857748 22460208 21918854 18311584 31125277 21913181 11058900 12938098 9836072 29161300 9143931 10227398 9354803 29280214 10498392 20807450 31871109 28905878 30441849 31143303 18286383 15184261 30257991 11979449 17550235 19804755 26071757 26780556 27742776 11359908 16943438 29116469 32438681 8972225 25748678 14534301 15609993 15689452 30254663 10946236 23613828 26864382 30105462 26778126 26951538 12496477 19369211 20177395 24845084 28398198 15887246 27802165 11573086 26221963 26757417 28961279 15133503 23842040 16528612 9788557 22737296 30458859 23231788 30832263 18285836 22984553 18694767 18992264 31447071 18493658 19563646 21372787 9523200 21371001 22684231 30315757 31853058 16101277 27822389 24569164 15385441 11877378 25136594 15983021 21901007 26344711
12	BRCA2	BRCA2 DNA Repair Associated	Protein Coding	425	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Likely pathogenic ⁶	12491487 29446198 29907814 (more) 9654203 25136594 18627636 22009639 20960228 24249303 26187060 9609997 10449599 15131399 15918047 24312913 11802209 11389159 18712473 21184276 23479189 24123850 25525159 26360800 26833046 15146557 24156927 28324225 22382806 22798144 23593081 25863477 28205045 12112655 17826769 21156238 9150172 16030099 25716084 28127413 10615237 10644434 11920621 17591843 24578176 28993434 16683254 21120943 29752822 24010542 25395318 27882536 14531499 27157322 27741520 27836010 10550133 21305653 24549055 28715532 22006311 28678401 30322717 23683081 12461697 21232165 28740454 31209999 20858050 12065746 12624724 12750298 19016756 15876480 18286383 19471317 20625817 25447315 22762150 19616529 12655567 20104584 27425403 27553368 9150174 11920643 22923021 24504028 24728189 26577449 26659639 27831900 28724667 28814288 22505045 23451180 27125725 10188893 15024741 12601471 26976419 14985394 17445839 26681312 17924331 18451181 18951461 19043619 21671020 21990134 23108138 23328489 24323938 25085752 25146914 26824983 30078507 30702160 30720243 19787003 11857748 19912264 26026974 22144684 28477318 8589730 27433846 12942367 18393245 28439188 15887246 12920083 17851763 20877358 20927582 27469594 26023681 11812938 12414830 12474142 15382066 20736950 23569316 29337092 29506128 23035815 11044354 14647210 17148771 21324516 25186627 25849179 26296701 16489001 18607349 20513136 21520273 28339459 19563646 21702907 23231788 25782689 28283652 29394989 12145750 20215541 15070707 21138478 21203900 21719596 21990165 22666503 26014432 27194814 29478780 29988080 16234499 21318380 8988179 19491284 17063270 21952622 12938098 17688236 10969800 21895635 22711857 24764757 27356891 25682074 25980754 28008555 29339979 25940717 30093976 21990299 28831036 29360550 29433453 9150154 14662532 17636422 23028338 27376475 29922827 27276934 18779604 12203997 12442265 27062684 29348823 10638982 10699917 23199084 29084914 29335924 9585613 28873162 15944772 23966579 25236687 26687385 28528518 30014164 12759930 22632462 15217494 23857704 27537391 9150155 23348723 20383589 25452441 25948282 11207042 15290653 15695382 23961350 24013206 29753700 21548014 26834852 8665505 11179017 16168118 24055113 24963353 27553291 8524414 21233401 23633455 26848529 8705994 26439132 27257965 30287823 15533909 24742220 26733283 29360161 11170890 28687971 24556621 27153395 10660329 20730485 21989927 24145998 16912212 26787237 28680148 28692638 29368341 14732925 18465347 20608899 22535016 23940062 24737347 27767231 25072261 22217648 28049253 24814045 25356972 10359546 26287763 16539696 25864590 18489799 22729890 26843898 9667259 27603373 28918466 29086229 11251181 12204006 22682623 26709275 28423363 28782087 29020732 9361038 28024868 20609468 23524863 27989354 28087643 28503720 29489754 29684080 30267352 10717622 29560538 27446417 28577564 23320992 26250392 17301269 19620486 26004055 10978364 29088781 18593900 25382762 29785153 9971877 12698193 27456091 11595708 12569143 28687356 29371908 25896959 11836363 21913181 24830819 20859677 25428384 14973102 19796187 25479140 26541979 18703817 22430266 26022348 27495310 29884841 22085629 30128899 11504767 11754111 12142080 18694767 25371446 29335925 25366421 26440929 28767289 29288066 29321669 29492181 11102986 11139248 9150152 25428789 14559878 19241424 17413421 30832263 10227398 19340607 10323242 10739756 11030417 11056688 12543786 16931905 17591842 18821011 23096105 11102977 16284991 18724707 21965345 22366370 22678057 24728577 26786923 28664449 28947987 29487695 12228710 17100994 26332594 28184945 26852015 29176636 29625052 29470806 21709188 29435039 29566657 30039884 27393621 27478808 29681614 30883759 24240112 18264087 19047089 21205087 12070551 29409476 12161607 18042939 25476495 19949876 11039575 9585608 25556971 18597679 15519522 31143303 20353281 29928469 29881398 10506595 31825140 11400546 9012404 22034289 25320599 27383479 30646163 21523855 26489468 29310832 31131967 12655560 14670928 29486991 22720145 25103822 9167459 25802882 27732944 28541631 12673801 25628955 16170354 16528604 16875939 22752604 27798748 15800311 28039656 26740091 27406733 21918854 16826315 10505028 30675319 31174498 31039815 12491499 21553119 27084275 19941162 17011978 26913838 18445692 20807450 21939546 22970155 17453335 26915939 15026808 26315209 18284688 28961279 25151137 27463008 20033483 28294317 15728167 26221963 22984553 23772696 21063910 16949048 26306726 31528241 14574168 31090900 19656164 23469205 21394826 26546047 19353265 15115758 15689453 16825431 16760289 12181777 19967274 12097257 29439820 29356034 29483665 12960223 24307375 12872265 28664506 30875412 19996028 14735197 26150619 16644204 27083775 24916970 20694749 24301060 9792861 14574155 14520695 24013928 21218378 11149425 11102978 10874312 18424508 21769658 11391658 22160602 26757417 16998791 11972384 12655515 30630528 28973083 31409081 18594331 25007954 26219728 27082205 19179552 19423647 21934105 22962691 20380699 25330149 23983145 29805665 31411802 26483394 15744030 25111659 16764716 17224268 28091860 29161300 30174293 11606101 22703879 30535581 15645491 30309222 26681682 28102861 18182601 12048272 16211554 17063265 17419707 20020529 22527104 23747895 25685387 17592676 28152038 28888541 24961674 28299801 16847550 10070953 24607278 17925560 26064523 26657402 15004464 24565270 24980567 16205630 19200354 21638052 22194698 26145171 27616075 30032850 12624152 26724258 12442275 15889636 11241844 25637381 11307153 23318356 23621881 8673090 19805903 26183948 9042907 28525389 22109874 29021639 31454914 16905680 25884701 27083178 12097290 18439106 18783588 16140926 24333842 25485004 22895246 23096355 24735155 25639900 16758124 22460208 19656415 23318652 26845104 17899372 11897832 18375895 20406929 25480878 27000661 27271530 16115142 16792514 22486713 21947752 22771033 26137147 27223485 27724927 28651617 30415210 32300229 10498392 17515903 22921157 23531862 27721756 18060494 11185744 19654294 23415752 25737278 28616458 28915716 10952777 28195569 25066507 20373018 26718727 24302565 16088935 17513806 18363094 20652400 21204799 23885733 29164420 25652403 8673091 11802208 19619314 28176296 29297111 25743105 28111427 28802053 21614564 12114492 17997147 27167707 23704984 18257128 30720863 17972177 18006916 15340362 16455195 27221827 26745875 27060066 32398771 18824701 19267246 16843109 24584348 27751358 11304778 21735045 29280214 32782288 24963051 10373512 22977638 29707112 29383094 30652428 31159747 17027500 25282148 29398457 31853058 29700634 26296696 31343793
13	BRIP1	BRCA1 Interacting Helicase 1	Protein Coding	425	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Likely pathogenic ⁶	16116423 16116424 16153896 (more) 17033622 19763819 21345144 22006311 24556621 26681312 27433846 21409391 26824983 26315354 29368626 25452441 26720728 28495237 24448499 26786923 15125843 29020732 29922827 28961279 21964575 22264603 25058500 27107905 27165003 27471560 30256826 30306255 31366178 31786208 25186627 27462233 25330149 26911350 26296696 29753700 20168331 22692731 23613520 24573678 26556299 26921362 27193682 27427815 31214711 31558676 29752822 20346647 28709830 28796317 20068231 20159562 21127055 22792074 29788478 26270727 28888541 30322717 32359370 20616022 16973432 20639400 24895130 26790966 15285897 19339519
14	C11orf65	Chromosome 11 Open Reading Frame 65	Protein Coding	425	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Likely pathogenic ⁶	10425038 16266405 19691550 (more) 27083775 8845835 9792409 21787400 23322442 23946315 29360550 26693373 22345219 23143971 25040471 25077176 30504431 9887333 10817650 26296696 28767289 12815592 17124347 21933854 27664052 28779002 9043869 10873394 12552559 15101044 15843990 16380133 18634022 22529920 23640770 29335925 30607632 26681312 27433846 28008555 8808599 9463314 25793145 9443866 9682216 26022348 28195393 10330348 10980530 15880721 18807267 19781682 25614872 26380989 26506520 27449771 30549301 16832357 21459046 21792198 26220245 15039971 21965147 24556621 26822949 27978560 27159176 16941484 9872980 21833744 25374739 29360161 30067863 18066086 12745884 15390180 22017321 25502423 8659541 8755918 9150358 25428789 29753700 10864201 17910737 9497252 18321536 10416970 26677768 26094658 19431188 20966255 21150274 22649200 26628246 27153395 28724667 29371908 9450874 9733514 20346647 21445571 26296701 21778326 29958926 11382771 8797579 8923007 27599564 29271107 21665257 22071889 23454770 23632773 29600275 23211698 24506781 25525159 28486781 9711876 25186627 25503501 26270727 24733792 27528516 27595995 27798748 27988859 29719442 29478780 29555771 29101607 10534763 25330149 30287823 8698354 12883528 20153123 26786923 26896183 27989354 28125075 29555025 29752822 9259193 11897822 17166884 19535770 22213089 30927251 31921190 28716242 28825054 28873162 28875981 31159747 29868112 28152038 29909963 28423363 12655570 18560558 30426508 28170084 22006793 16411093 29888287 28139868 15054841 23566627 28126470 29922827 31050087 9521587 11805335 21354641 22146522 25122203 25957637 30322717 30579816 30819809 14695534 17389389 20945614 9892178 18573109 26556299 30128536 7792600 10397742 11756177 12149228 12697903 17968022 19404735 23585524 30620386 9244351 15164409 32183364
15	CDH1	Cadherin 1	Protein Coding	425	Pathogenic/Likely pathogenic ⁶ Pathogenic ⁶ Likely pathogenic ⁶	24366306 27752808 18391748 (more) 22020549 24389957 25315765 24493355 30093976 30542785 30745422 26025002 15235021 17545690 17634464 19269290 23073328 26072394 29368341 29589180 10477433 28195815 15457549 16061854 19965908 20233471 21696387 26182300 15831593 17221870 18427545 21681551 27682646 27995193 30426508 21424370 23264079 29025585 11968084 18046629 28688938 20373070 22225527 23752020 25525159 26270727 16924464 19268661 26681312 27582386 17660459 29307626 25123297 30306390 19725995 15735979 20719348 29454568 30014492 23709761 19223545 9537325 28202063 31514334 27064202 30935944 8127895 9744472 10072428 27880784 29769627 20371349 29798843 22850631
16	CDKN1B	Cyclin Dependent Kinase Inhibitor 1B	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶
17	CDKN2A	Cyclin Dependent Kinase Inhibitor 2A	Protein Coding	425	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Likely pathogenic ⁶	28146043 10738302 16397522 (more) 16896043 18025365 18337833 19523171 20093296 25780468 26581427 26681309 26775776 29263814 9916806 10390011 10398427 11556834 11595726 11815963 16234564 20340136 21462282 23190892 9425228 9516223 9699728 10389768 15146471 19260062 19360740 24659262 26381259 26658419 27181379 28592523 7647780 7666917 7987387 8668202 8755727 15140233 17992122 9856841 16893909 18023021 22368299 10861313 17218939 21150883 28830827 10956390 16905682 17047042 18813118 18981015 21614589 22636603 25227142 7640518 9823374 12454511 18983535 25356972 15945100 16307646 8595405 9328469 9416844 10498896 10922411 11156381 11319798 12072543 20526219 24935963 25803691 25813228 27287845 8653684 10491434 15304098 17171691 7569991 8570179 8710906 9389568 11506491 29541281 11433531 12920094 26876133 15173226 16169933 23613284 29661971 10627132 12853981 14508519 28726808 24737347 17276542 26892650 11726555 26800492 26907448 27804060 9751050 15235029 16214921 17492760 10874641 10892805 11687599 15761864 18803811 20876876 21325014 22841127 28060055 17167857 19712690 11008905 18951449 7566978 10070944 19759551 8723678 24660985 12700603 15860862 19331830 19571771 19799798 20539244 20653773 21893440 28717660 28979722 29506128 29543703 32113160 27267843 26542317 11518711 17255954 15856016 20132244 25294512 31382929
18	CHEK2	Checkpoint Kinase 2	Protein Coding	425	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Likely pathogenic ⁶	26681312 26976419 27751358 (more) 28724667 10617473 11053450 11719428 11967536 15122511 21807500 21956126 22811390 26084796 26641009 26822237 26884562 27083775 27153395 27269948 27433846 27798748 28125075 28135145 28195393 28503720 28727877 28734145 28802053 28874143 29351919 29489754 26022348 28008555 12909615 24879340 25318351 25503501 22419737 26270727 27806230 28944238 21244692 24113346 24556621 27273131 18725978 27708748 28779002 26822949 23960188 28608266 27696107 26023681 27039729 26911350 19768534 30287823 30128536 31118792 29520813 31349801 12533788 29922827 31409080 32041497 28152038 28873162 18297428 29356917 27878467 12049740 15095295 25525159 28553140 29335925 30322717 30580288 30851065 30858171 30980208 31159747 31300551 31398194 29522266 30441849 11298456 15535844 22114986 26898890 29146883 30967556 12499371 21963792 25619829 29761796 15818573 16835864 18058223 21562711 27553368 27595995 28709830 29439820 29659569 29945567 30303537 30426508 30666157 30676620 31050813 31090900 31206626 31263054 26484312 29909963 21876083 24713400 24763289 26506619
19	DICER1	Dicer 1, Ribonuclease III	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶	19556464 25451712 26886166 (more) 26925222 25022261 25118636 24839956 23728841 28323992 30178239 30989777 24909177 21501861 21266384 24617712 24151152
20	FANCC	FA Complementation Group C	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶	26681312 26740942 8103176 (more) 8128956 9207444 17924555 28425259 8844212 8882868 10666230 15516848 22701786 23613520 26778106 8081385 8348157 8639804 11110674 17909071 22778927 23028338 27133164 27577878 28125075 16429406 28717661 29753700 7689011 20509860 21659346 28125078 28259476 30322717
21	FH	Fumarate Hydratase	Protein Coding	425	Pathogenic/Likely pathogenic ⁶ Pathogenic ⁶ Likely pathogenic ⁶	12761039 16029320 19939761 (more) 21445611 21630274 24625422 26900816 29909963 15937070 18176756 20618355 21733559 11865300 18366737 20549362 21404119 10896297 15221078 16876016 18313410 19151755 25637381 28747166 16597677 21398687 25923021 27454940 12772087 26023681 28300276 30761759 22561013 25525159 26323704 17392716 14632190 15663510 15761418 24441663 25750977 24419633 9635293 26556299 22982371 21340633 25004247 15987702 16151915 16510303 16639410 21560188 22703879 2314594 23612258 24182348 25985877 28825054 28873162 31444830 9300800 16309500 23320739 22764886 29423582 29456767 16237213 31746132 31524643 26945337 24334767 25613812 30050099 21904061 9665847 18514489 22086304 24526232
22	FLCN	Folliculin	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶	15852235 19802896 15805188 (more) 19457309 20618353 25594584 18234728 23848572 12471204 26659639 27734835 28839995 26943385 27220747 18794106 19785621 27356891 27470329 22146830 24910976 23386036 27722904 21506000 26402642 15657874 21937013 11100034 20413710 24190151 24994497 28499369 18505456 22571569 22725638 25655561 27906882 28724667 22679611 12204536 21538689 26028485 29357828 29548312 30360018 23264078 23784378 26603437 27257988 28869776 17611575 29669049 29720200 18579543 22068306 17034545 27780965 28151982 22977732 27355777 28970150
23	LOC100506321	Uncharacterized LOC100506321	RNA Gene	425	Pathogenic ⁶ Likely pathogenic ⁶	21685915 22452945 27838885
24	LOC100507346	Uncharacterized LOC100507346	RNA Gene	425	Pathogenic ⁶ Likely pathogenic ⁶	29575684 16906569 8658145
25	LOC107303340	3p25 Von Hippel-Lindau Tumor Suppressor, E3 Ubiquitin Protein Ligase Alu-Mediated Recombination Region	Biological Region	425	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Likely pathogenic ⁶	10581162 12202531 15300849 (more) 18685280 7728151 9829912 12393546 24581539 8956040 23102223 30338240 25720320 27527340 27617348 7987327 8730290 10567493 12114495 17024664 20518900 25371412 27439424 27539324 7987306 10900011 20660572 23512077 28944243 29616089 30042107 11987242 12415268 12844285 14604959 15177666 15574766 17264095 17992257 18836774 19030229 21606165 21876117 21993671 23015148 24728327 23318261 23673869 9435426 11331612 12000816 15642680 16452184 19228690 19602254 23772956 7563486 8707293 8772572 8493574 10088816 10587522 12538644 20583150 23660872 23845641 26503325 29748190 31528828 10408776 17350623 19270817 22649785 9829911 24727139 11309459 16809612 17661816 28469506 29949369 14722919 16210343 16969113 23859443 24115288 24969085 30105105 30943211 31149315 20846682 29891534 14556007 10766184 11409863 7977367 22145147 23397066 24977658 26323595 9452106 20567917 22105611 25867206 28388566 14636579 9681856 23298237 18209888 19336503 20151405 8550742 16314641 19574279 19958924 24132471 15607616 17102088 27811160 11058902 19009041 24518179 19408298 12807974 17392848 19215943 22517557 24102379 15824109 21784903 24466223 25661653 8634692
26	MAX	MYC Associated Factor X	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶	21685915 22452945 27838885 (more) 23551045 28152038
27	MEN1	Menin 1	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶	11524904 11836268 12509449 (more) 14508515 15714081 22327296 9215689 12807514 15254225 17879353 21819486 26756113 26905068 9103196 9439676 9747036 15635078 19041010 21340156 29036195 26767918 12112656 15670192 17065424 17853334 23321498 23565397 31482957 12213668 10980535 18045958 25525159 9215690 9683585 12049533 16563611 22026581 24599222 28870973 30324798 10090472 15522929 10617276 11454510 17711922 9354421 19074834 22090276 23648481 9989505 18753104 25309785 9463336 10664520 22577108 10856877 14678300 20833329 29097378 12050235 15464422 11765051 12791038 10993646 23052745 9506756 22666734 9888389 9820618 12166655 12746426 17623761 19491073 28881068 22549346 15730416 16484744 11578300 10027401 10594843 10849016 10576763 12652570 30339208 19461164 9709922 12016470 16449969 16840830 27212590 10660339 26239674
28	MLH1	MutL Homolog 1	Protein Coding	425	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Likely pathogenic ⁶	19459153 9833759 16830052 (more) 18618713 18772310 27978560 29360161 29596542 10882759 12547705 14514376 15046089 15786548 17054581 8571956 9311737 24204293 28874130 10082584 11781295 12658575 12810663 15713769 16982745 16995940 17510385 17594722 18383312 19698169 21387278 22949387 24362816 9218993 15926618 11429708 12112654 18566915 21681552 25648859 29575718 19863800 23403630 8566964 8592341 9806477 14635101 15849733 15872200 17267619 17312306 15253764 26437257 17135187 17210669 21404117 21520333 26895986 9697702 11524701 16395668 26666765 12655562 19669161 19685281 10422993 20587412 29887214 14699485 18561205 19419416 20682701 26247049 28445943 10323887 12362047 16034045 16216036 7704024 8145827 8521398 9298827 11139242 11748856 14762794 19697156 24440087 27152634 27601186 29288294 12183410 11427529 16083711 16451135 18033691 24032978 8880570 8863153 15765394 22691310 8872463 10448273 12067992 15178966 19267393 21671475 22949379 25525159 26681312 28944238 29228462 30019097 11208710 11585727 9377556 15300854 15309712 16341550 17453009 17569143 23760103 28127413 12070261 16456782 19224586 10713887 18726168 21636617 20167975 26202870 28724667 28932927 9718327 20045164 21056691 21247423 21868491 23047549 28514183 32039725 29505604 30256826 16807412 25430799 26248088 27357288 12555990 19072991 15289847 10533476 22453149 20034658 25871621 20924129 12655568 26485756 28449805 15217520 25345868 26628864 15991306 25980754 17348456 16338176 21286823 28466842 29345684 24456667 25477341 28727142 22736432 14504054 16181381 17473388 20533529 20864636 23752102 15365995 18931482 24802709 27295708 29151953 8797773 9559627 8630936 18389388 23990280 24689082 28135145 8574961 11948175 25871441 25617771 21120944 21840485 24084575 22878509 24811117 25117503 8521394 11151427 19731080 20223024 24278394 26300997 29506128 8808596 12624141 21642682 10495924 15342696 18227862 16276679 16341804 22854115 24344984 9820400 11793442 15475387 27602174 25782445 22290698 25077178 29922827 16142001 19250818 20858721 23523604 17440981 15139004 16724012 10534773 11839723 15222003 17192056 16116158 16616355 22322191 15855432 17095871 17665423 20459533 24333619 14517962 15365996 11112663 15235038 27064304 29755653 9634524 18759827 7812952 18270343 23612316 20020535 22753075 22987205 10480359 22773173 9399661 8971183 25081409 26761715 22883484 12362032 15923275 23896635 15955785 10923051 25197397 30376427 12200596 25530820 11726306 9272156 15466831 17222328 18415027 20704743 27435373 30998989 23354634 29760937 10199405 26249686 23435383 29967336 25389437 16736289 17653898 10564582 18301448 20052760 26811195 16206289 11555625 16379545 25892863 21671081 19339519 29478780 16636019 18625694 22034109 661956 23729658 12537657 26333163 30212499 19690142 28152038 23640085 11754112 23056405 22692065 28334867 29520894 25851949 18094436 25927356 25420488 30702970 25559809 31054147 19893772 27930734 12011148 21665242 21615986 24090359 11574484 25186627 20717847 29790873
29	MRE11	MRE11 Homolog, Double Strand Break Repair Nuclease	Protein Coding	425	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Likely pathogenic ⁶	24763289 25503501 27153395 (more) 28559769 11371508 15269180 16858402 23436002 21227757 28152038 29922827 24894818 26898890 9845372 28123851 26122175 28008555
30	MSH2	MutS Homolog 2	Protein Coding	425	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Likely pathogenic ⁶	10404063 10480359 15849733 (more) 15926618 24933100 20388775 11291077 19419416 20587412 22371642 17653898 30521064 12385013 16116158 16616355 17720936 18822302 19072991 19267393 20672385 21309037 22102614 25117503 26951660 7717919 8261515 12624141 15713769 15955785 15235034 17440950 7585065 9718327 11920458 16395668 22290698 24100870 24362816 8062247 12655562 19669161 21387278 24278394 7726159 9311737 10422993 11809679 28944238 29887214 12949792 24344984 28874130 10080150 11606497 8931714 10323887 10375096 11151427 16216036 16736289 18270343 19731080 22034109 24851142 25430799 25525159 8592341 11112663 11420466 12200596 10612836 15222003 21681552 22321913 26289772 29575718 12373605 12414824 11153917 11208710 15365995 15845562 27398995 27873144 8581513 22322191 23170986 19459153 21239990 21590452 27016151 29238914 30376427 10564582 17312306 21778331 24244552 25712738 26552419 29360161 8872463 12112654 16034045 19723918 21642682 28449805 29360550 15235030 15655560 18289827 24474082 20459533 12124176 14574162 15680406 21056691 28687971 7874129 8574961 9002677 9125109 10446963 10978353 11920650 16203774 18566915 19130300 20682701 21598002 26681312 27601186 30019097 17229076 23047549 16639607 22883484 25569433 25648859 11601928 16636019 16830052 17569143 18772310 20007843 29489754 29889250 9288790 19250818 10777691 16311127 16451135 18759827 20215533 20872076 15872200 17939062 25194673 27064304 15217520 29967423 14970868 28127413 28577310 23523604 17846840 9036882 27329137 7713503 25504677 10413423 9777949 17483304 17601929 19669601 22480969 25133505 25980754 8808596 22166501 12658575 14635101 26648449 10448273 15178966 30877237 10495924 24323032 26659639 27013479 17473388 8723682 17453009 18625694 12386821 15042510 15516845 11720433 11579115 17531815 24603434 28514183 10528862 12454801 16199548 17101317 19101824 23990280 12655568 15571801 18618713 27468915 25872134 27556954 17250665 18383312 18781619 21120944 27302833 26248088 28152038 18931482 23690608 28422960 11524701 16327991 20176959 31569399 9298827 21879275 20052760 27863258 26053027 26822237 16142001 9506527 20010080 21225464 22739024 14504054 21550136 15996210 18726168 29333623 27287813 11879922 12362047 20223024 15350299 12626904 25559809 12324578 15862756 15824023 16476474 24090359 17661183 17054581 31054147 16884359 19698169 22949379 16807412 29020732 20591884 26247049 25200962 16803540 29706640 29967336 21311894 19685281 22712459 23537056 19728162 26076155 17189986 18307539 19324997 18951462 28785832 22234272 27978560 15342696 21926548 11048710 25006859 21671081 22776989 15520370 19526325 27713421 24969397 18561205 20937110 19100506 24903654 8952554 22949387 16288214 27273229 21520333 23612316 10077621 15340264 16995940 17074586 7937795 8521394 9774676 10874318 30374176 31237724 24114314 10523644 30608896 30740824 32642664 10530344 10732761 27629256 29731845 25081409 22179786 10970737 12875840 23729658 26249337 27920101 28258479 27432916 28765196 21156417 11379475 14668545 19254532 23056405
31	MSH3	MutS Homolog 3	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶	27476653 28528517 28944238 (more) 22179786 27712984 28875981
32	MSH6	MutS Homolog 6	Protein Coding	425	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Likely pathogenic ⁶	20487569 16885385 20028993 (more) 25559809 26787237 18301448 26681312 27601186 11479205 15837969 18550572 18269114 18566915 21836479 22495361 16807412 26666765 25255306 25093288 26437257 14961575 17531815 24362816 15236168 19575290 28460341 10508506 15483016 16034045 17453009 18625694 22081473 29967336 15872200 20007843 23990280 24440087 30498870 17117178 20587412 20591884 27723366 28466842 14974087 24323032 29107668 25307252 26274037 28449805 22006311 11807791 20379851 20924129 27153395 22219001 26440929 18409202 21056691 21674763 26318770 29345684 23294250 27013479 28724667 28874130 26552419 28528517 25617771 30013564 23263490 25637381 12732731 18809606 19459153 27456091 15365995 25117503 28481244 9307272 9929971 17718861 25782445 25980754 27928858 22949379 28135145 28514183 28975465 28938458 30128536 30612635 21642682 27714650 10507723 17259933 18236172 27433846 30670635 23047549 26099011 24100870 17199584 25142776 25318681 26177554 28944238 31783044 30322717 25430799 24244552 26270727 29750335 18951462 22102614 22179786 17909073 23733757 12547705 27064304 10471527 26720728 24689082 26483394 29360161 24763289 26845104 28502729 30376427 28152038 29478780 29922827 19194194 24506336 32642664 22581703 32809219 27273229 28531214 24434690 17323113 28283864 11245474 17312306 25525159 26687385 26023681 19698169 16000562 20531397 25642631 25432668 27398995 16360201 30629138 12376742 23541221 26648449 25648859 21868491 29238914 16736289 26517685 15217520 21039432 23612316 23588873 23652311 30608896 26446363 19526325 24933100 25740784 16418736 16525781 22250089 26832770 27696107 29785566 30521064 18709565 22290698 23621914 30877237 1753181 11709755 15324697 22277660 15354210 21120944 21431882 22851212 16203774 24040339 29875428 18790734 28491141 16813607 19723918 30536544 21520333 23773459 29485237 29887214 10938287 24896128 25862369 28765196 31965077 27978560 27443514 31100584 25186627 26333163
33	MUTYH	MutY DNA Glycosylase	Protein Coding	425	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Likely pathogenic ⁶	17874208 19032956 25590978 (more) 26902849 27194394 28533537 17703316 18422726 25820570 25892863 29330641 30833417 12393807 18534194 19732775 27829682 28152038 16140997 19836313 20191381 20618354 20848659 23007840 23322991 25937855 27153395 28944238 16338133 19394335 21063410 15188161 15366000 19531215 22744763 25980754 26681312 21952991 22158503 22297469 22473953 22926731 23108399 23361220 23561487 24082139 16557584 17949294 18787472 19806110 22538434 15635083 22865608 24691292 20223003 12853198 17674103 24470512 26556299 14991577 15673720 17931073 16941501 17219385 26377631 29406563 15890374 19506731 22703879 24569162 16134147 16287072 16455870 17081686 24444654 26446593 27870730 15761860 19793053 12606733 14633673 19953527 23729658 25368107 16207212 16890597 23605219 25151137 28127763 15236166 18301448 21195604 17581577 19527492 21171015 24763289 27705013 18515411 25559809 11092888 25856671 20816984 18091433 19414147 24799981 25197429 26600934 27145315 30604180 19841264 16408224 19725997 18433509 21078199 29915346 31220976 26511139 26976419 11805113 20628285 15036665 15681617 26673696 29754767
34	NBN	Nibrin	Protein Coding	425	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Likely pathogenic ⁶	25677497 29922827 9590180 (more) 24763289 28727877 29506128 12621246 18593981 23149842 24549055 25712764 26681312 29093764 24894818 26315354 26787654 22864661 28152038 28374160 27616075 28888541 30651582 31159747
35	NF1	Neurofibromin 1	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶	10543400 22155606 23913538 (more) 25325900 8837715 15146469 23621909 27716896 29415745 12807981 19120036 24357598 25370043 26178382 26706011 26740943 17311297 22925204 7607663 10712197 15060124 16479075 19221814 21271658 23668869 24803665 27322474 29522274 31595648 9219684 9302992 9668168 9687500 10862084 18546366 24789688 25293717 25541118 8081387 21354044 7655472 16138229 18041031 21031597 10607834 16380919 16944272 23404336 7981679 15523626 17160901 20602485 21532985 23047742 23656349 7904209 19738042 8664912 9180088 15627836 27862945 8069310 14635100 8834249 10726756 24294391 24676424 28152038 29957862 30308447 9783703 10336779 22807134 26635368 18484666 22108604 26969325 7633431 31717729 31766501 23758643 18503770 26659639 29100083 26056819 26908603 26973730 27171602 27482814 12112660 12872266 23322702 2114220 8845843 16835897 14517963 25074460 25480383 25788518 26514327 21838856 16961930 8544190 15863657 23010473 25324867 11735023 7311297 20964122 17426081 25525159 16786508 9003501 11258625 17514731 24694336 25403449 28961165 31370276 28068329 26458495 29952103 20605257 28891274 30104415 31301733 11857752 10076878 21280148 17353900 12552569 24932921 25612910 23244495 27838393 9101300 11431704 23583981 22222937 19061981 8829638 16306205 16414076 12095621 16005615 17726231 12566521 12787671 8628317 28529006 24413922 12522551 9150739 14569132 19292874 25966637 29673180 17712740 29290338 10980545 26076063 17103458 22664660 26478990 19142971 11967553 16825284 24710307 11476066 16199547
36	NTHL1	Nth Like DNA Glycosylase 1	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶	18515411 25938944 26431160 (more) 26649986 27713038 27720914 30753826 31942411 31227763
37	PMS2	PMS1 Homolog 2, Mismatch Repair System Component	Protein Coding	425	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Likely pathogenic ⁶	18602922 25856668 26110232 (more) 21376568 25186627 26681312 16472587 17993636 25637381 26895986 20205264 22918162 23709753 25430799 25477341 27589204 28724667 30376427 28466842 19132747 20186688 25512458 15077197 19495563 26318770 26720728 7661930 15887099 24728189 27017610 27037742 28562508 30155321 26247049 20487569 22577899 23012243 27064304 25648859 24440087 24556621 29308099 29915322 18310077 18619468 23435383 17557300 28007021 27435373 10763829 27742654 28218421 26437257 21261604 29345684 22848017 29967336 16619239 24362816 15256438 15872200 22081473 26845104 25980754 25871621 27476653 22608206 27001570 16507833 21356188 28805995 7629132 24506336 28135145 27433846 30013564 23629955 30306255 25117502 28381238 16116158 16616355 19283792 20531397 18178629 26320870 20587412 22585707 22703879 30337059 26248088 31916644 25691505 11574484 27978560 22949387 28765196 16817031 17312306 20624957 29946849 30572730 30809968 9419979 30256826 22290698 23837913 28365877 28503822 31507588 23729388 28494185 29922827
38	POT1	Protection Of Telomeres 1	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶	25877891 27528712 24686846 (more) 25482530 27329137 28393830 28393832
39	PTCH1	Patched 1	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶	18502968 8981943 10200051 (more) 10048928 15459969 16929110 18373848 29575684 16567768 21325292 28892064 24814739 16906569 12655573 15042702 16203740 16301862 19557015 24204797 8840969 9620294 8658145 21834049
40	PTEN	Phosphatase And Tensin Homolog	Protein Coding	425	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Likely pathogenic ⁶	25669429 9259288 20600018 (more) 21194675 21659347 21828076 28526761 29706350 10920277 16014636 21103832 26795104 28677221 10866302 16773562 16704655 19457929 21956414 24778394 26246517 27514801 28523199 29296277 9288766 23470840 10076877 10400993 12938083 14566704 17942903 22261759 23161105 24375884 24744697 26681312 27477328 28263302 20300775 21822720 22266152 22320991 22327138 22595938 23399955 26798346 28475857 29359449 9915974 17526801 15211648 16952599 17526800 25288137 28286253 9140396 22381246 23764071 23934601 28235761 29706633 23335809 25527629 9467011 11918710 17954274 23160955 9832032 25363760 27824329 28191890 10051603 12208743 22962422 22469695 25525159 19265751 19968660 11886535 11071384 11332402 18080326 21291452 17392703 20962022 26787237 10923032 12015762 20049735 26665196 28251007 30720243 10848731 17941496 22281088 22520842 23475934 26376867 29663862 10232405 10749983 23695273 9399897 25549896 10772390 26418532 24123798 26185318 26845104 20533527 27531073 29273943 29608813 11494117 18757403 20538496 22005521 25429968 28188106 30212499 20223021 28086757 25246819 20712882 31336731 21430697 29510612 12415190 18558293 26157835 31594918 11476841 23117110 10234502 25437057 29444762 9241266 9256433 19622968 15951562 23085752 9425889 15372512 12614768 22628360 29874181 11156408 11875759 17218260 17218261 18716620 18794879 9797362 11748304 21417916 25875300 10555148 11939587 25022750 25132236 26468640 30311380 25722288 29785012 29970488 31006514 9600246 15120218 16752378 10554022 12414663 24099866 25647146 9811831 10468583 10866658 19114656 20940307 24561254 22503188 22076652 14675182 26076150 20926450 26504226 15659546 19719509 14976311 23361946 24656806 19604110 15694342 19461582 25851949 26432245 27535533 10807691 23124040 29533785 24498881 17324556 20685300
41	RAD50	RAD50 Double Strand Break Repair Protein	Protein Coding	425	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Likely pathogenic ⁶	25452441 18281469 24240112 (more) 26824983 24763289 24549055 10892749 25828805 24894818 28888541 26023681 29506128 30630526 26534844 25927356 26094658 19409520 20805886 26822949 16385572 27153395 30093976 28715532 21441914 28961279 29752822 25151137 21035407 27913932 14684699 16474176 19190165 19904603 20571869 21811815 24093751 19092773 26786923 28152038 31159747 30067863 26556299 28687971 10415333
42	RAD51C	RAD51 Paralog C	Protein Coding	425	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Likely pathogenic ⁶	21537932 21750962 22451500 (more) 26261251 27433846 25086635 27913932 30322717 20400964 22006311 26681312 26720728 26848151 27230542 29053726 29522266 29922827 26687385 26822949 29255180 29659569 21990120 22538716 28281021 21616938 23176254 28802053 22725699 23117857 24240112 25470109 26740214 28588062 24139550 24549055 24800917 25452441 28123851 28152038 28905878 30949688 29566657 27622768 27616075 28709830 26824983 24993905 25154786 29409816 20400963 22167183 26057125 27621404 29978187 30374176 12442171 29054568 25525159 31300551 31843900 24141787 25292178 26103414 26354865 21447597 23500037
43	RAD51D	RAD51 Paralog D	Protein Coding	425	Pathogenic/Likely pathogenic ⁶ Pathogenic ⁶ Likely pathogenic ⁶	24130102 26681312 30103829 (more) 21111057 21822267 23372765 26296696 28008555 25445424 26261251 27153395 27273131 28821472 25452441 22986143 26057125 27083178 28423363 29053726 26720728 27913932 22275364 24240112 28152038 27616075 26046366 29020732 30111881 22652533 26083025 28874143 30927251 16236763 6329717
44	RAD51L3-RFFL	RAD51L3-RFFL Readthrough	RNA Gene	425	Pathogenic/Likely pathogenic ⁶ Pathogenic ⁶ Likely pathogenic ⁶	24130102 26681312 30103829 (more) 21111057 21822267 23372765 26296696 28008555 25445424 26261251 27153395 27273131 28821472 25452441 22986143 26057125 27083178 28423363 29053726 26720728 27913932 22275364 24240112 28152038 27616075 26046366 29020732 30111881 22652533 26083025 28874143 30927251 16236763 6329717
45	RB1	RB Transcriptional Corepressor 1	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶	10966849 12541220 1352883 (more) 20041224 24688104 26925970 28724667 9632788 1577465 14722923 17096365 17960112 20447117 21763628 23981928 7704558 8651278 28803391 7795591 15884040 16343894 30031154 11317357 19280657 22219649 24791139 25712084 15166261 27021801 12016586 18000883 28575107 15605413 22328814 25525159 25754945 2594029 27582626 29568217 12955724 16269091 25424699 26084579 7981694 10671068 22963398 15776430 9311732 9973307 12402348 27983729 18449911 7881418 8346255 8605116 24225018 10023315 2748600 25758528 26580448 26787237 29261756 25928201 26396485 16463005 9400934 14769601 23532519 20090211 18181215 16972022 19390654 28529006 12502741 23826078 10991691 9671401 22205104
46	RECQL	RecQ Like Helicase	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶
47	RET	Ret Proto-Oncogene	Protein Coding	425	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Likely pathogenic ⁶	12000816 19469690 21765987 (more) 24331334 27539324 7907913 17895320 20979234 25810047 8557249 18058472 18063059 21254918 8807338 9174404 9839497 15858153 20103606 25637381 27673361 27994876 10445857 16532227 16712668 20087666 24361808 24845513 26247112 26269449 27809725 7784092 9242375 9398735 9452077 25628771 8918855 24561444 24784869 25515555 28469506 7824936 12686527 7881414 9067749 10876191 11114642 12410354 17466010 19958926 21711375 21810974 23341727 24336963 28125075 8797874 10024437 15292360 15753368 20516206 20554711 23295303 24064755 24449023 26356818 28647780 12150334 16314641 19201392 26920351 29026273 7595170 7835899 7915166 8099202 9111993 24805091 29656518 7874109 14602786 16649977 17704047 18805915 21834681 22676047 23461807 23745650 24616773 28951487 19177457 20119574 22068382 7849720 15744028 18206480 19336503 21986619 30031151 30349395 11395220 11688458 23407919 28099363 12409662 18062802 21688339 22403753 22965292 23210566 23756355 9506724 12116277 15855933 7845675 9111992 25694125 21690267 20152359 9068588 9146685 9384613 21479187 21678021 25319874 26687385
48	SDHA	Succinate Dehydrogenase Complex Flavoprotein Subunit A	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶	19628817 20484225 21505157 (more) 22955521 23043141 23154507 23612575 27847310 28546994 21752896 23252569 23666964 23730622 25494863 26113600 26490314 27895137 28500238 28819017 29872718 30068732 23750034 10746566 26334176 25720320 26556299 22429592 23060355 29177515 30050099 23109135 23282968 27011036 27986441 15989954 11423010 1492653 16798039 20489732 21858060 22677546 30728243 7550341 17480203 25394176 26198225 28384794 28724664 28748451 23797725 21822798
49	SDHAF2	Succinate Dehydrogenase Complex Assembly Factor 2	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶	24414418 28099933 19628817 (more) 20071235 21348866 23062074 31687641
50	SDHB	Succinate Dehydrogenase Complex Iron Sulfur Subunit B	Protein Coding	425	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Likely pathogenic ⁶	12618761 16317055 16405730 (more) 16912137 17487275 18419787 18728283 19075037 21909610 26273102 27539324 28944243 30122763 17143317 19184535 20119652 21173220 22835832 26173966 16314641 19258401 19454582 20208144 20592014 20614293 23083876 27604842 15328326 22517557 31492822 15235042 17102086 17376234 22517554 23072324 23175444 29386252 30217213 16304664 17652212 18382370 18551016 21934479 25130709 12362046 14685938 19415531 25215250 25972245 28784873 28973655 30201732 31666924 12000816 30549360 19351833 17200167 18840642 23666964 28284009 11897817 27171833 27573198 28324028 28374168 17943698 19694205 22904323 27785149 28503760 14500403 16103922 19393419 23934599 25791839 19411806 26283294 25298897 30352407 12364472 18362451 23282968 26719882 29951630 19189136 19576851 19927285 20213850 20503330 20583550 25683602 26198225 26556299 24436918 23902947 24276837 25025441 25047027 25736212 25873086 28490599 25371406 26302408 11404820 15989954 24694336 17848412 17987308 22241717 23407919 24096523 22492777 25394176 12560550 13129931 16982587 29623478 19215943 30694796 17308434 19522823 19802898 24659481 26960314 30050099 23640968 14715873 20702724 17102082 26269449 25405498 28891197 24758379 25720320 19763184 21784903 27279923 21822798 22430264

Sources

Variations for Inherited Cancer-Predisposing Syndrome

ClinVar genetic disease variations for Inherited Cancer-Predisposing Syndrome:

⁶ (show top 50) (show all 67815)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	APC	NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)	SNV	Pathogenic/Likely pathogenic, risk factor	822	rs1801155	GRCh37: 5:112175211-112175211 GRCh38: 5:112839514-112839514
2	ATM	NM_000051.3(ATM):c.3025G>T (p.Glu1009Ter)	SNV	Pathogenic	481093	rs1064794039	GRCh37: 11:108142081-108142081 GRCh38: 11:108271354-108271354
3	MSH2	NM_000251.2(MSH2):c.1208del (p.Asp403fs)	Deletion	Pathogenic	483695	rs1553356678	GRCh37: 2:47657012-47657012 GRCh38: 2:47429873-47429873
4	ATM	NM_000051.3(ATM):c.4451del (p.Met1484fs)	Deletion	Pathogenic	481323	rs1555099760	GRCh37: 11:108163360-108163360 GRCh38: 11:108292633-108292633
5	MSH2	NM_000251.2(MSH2):c.2593dup (p.Ile865fs)	Duplication	Pathogenic	483692	rs1553370443	GRCh37: 2:47707968-47707969 GRCh38: 2:47480829-47480830
6	PMS2	NM_000535.7(PMS2):c.2192T>A (p.Leu731Ter)	SNV	Pathogenic	480369	rs1060503110	GRCh37: 7:6018310-6018310 GRCh38: 7:5978679-5978679
7	TP53	NM_000546.5(TP53):c.121_124dup (p.Asp42delinsGlyTer)	Duplication	Pathogenic	480742	rs1555526784	GRCh37: 17:7579562-7579563 GRCh38: 17:7676244-7676245
8	MSH2	NM_000251.2(MSH2):c.443del (p.Val148fs)	Deletion	Pathogenic	480905	rs1553350721	GRCh37: 2:47637309-47637309 GRCh38: 2:47410170-47410170
9	TMEM127	NM_017849.3(TMEM127):c.3G>T (p.Met1Ile)	SNV	Pathogenic	126968	rs121908814	GRCh37: 2:96931117-96931117 GRCh38: 2:96265379-96265379
10	PMS2	NM_000535.7(PMS2):c.1345C>T (p.Gln449Ter)	SNV	Pathogenic	484309	rs876661256	GRCh37: 7:6027051-6027051 GRCh38: 7:5987420-5987420
11	PMS2	NM_000535.7(PMS2):c.1999_2000GA[1] (p.Glu667fs)	Microsatellite	Pathogenic	486927	rs1554297058	GRCh37: 7:6026394-6026395 GRCh38: 7:5986763-5986764
12	RET	NM_020975.6(RET):c.1860C>G (p.Cys620Trp)	SNV	Pathogenic	13934	rs79890926	GRCh37: 10:43609104-43609104 GRCh38: 10:43113656-43113656
13	MLH1	NM_000249.3(MLH1):c.1456dup (p.Ser486fs)	Duplication	Pathogenic	237314	rs878853778	GRCh37: 3:37070319-37070320 GRCh38: 3:37028828-37028829
14	ATM	NM_000051.3(ATM):c.855del (p.Gln286fs)	Deletion	Pathogenic	481152	rs1555067251	GRCh37: 11:108115707-108115707 GRCh38: 11:108244980-108244980
15	ATM , C11orf65	NM_001330368.2(C11orf65):c.640+20815dup	Duplication	Pathogenic	481261	rs864622669	GRCh37: 11:108235829-108235830 GRCh38: 11:108365102-108365103
16	PMS2	NM_000535.7(PMS2):c.240del (p.Phe80fs)	Deletion	Pathogenic	484324	rs1554304957	GRCh37: 7:6043613-6043613 GRCh38: 7:6003982-6003982
17	PMS2	NM_000535.7(PMS2):c.162_163insAATT (p.Asp55delinsAsnTer)	Insertion	Pathogenic	484246	rs1554306288	GRCh37: 7:6045523-6045524 GRCh38: 7:6005892-6005893
18	PTEN	NM_001304718.2(PTEN):c.-44del	Deletion	Pathogenic	486232	rs1554900593	GRCh37: 10:89711928-89711928 GRCh38: 10:87952171-87952171
19	SMAD4	NM_005359.6(SMAD4):c.903del (p.Trp302fs)	Deletion	Pathogenic	486981	rs1555685978	GRCh37: 18:48584825-48584825 GRCh38: 18:51058455-51058455
20	MRE11	NM_005590.4(MRE11):c.1773_1774del (p.Gly593fs)	Deletion	Pathogenic	483659	rs1555005270	GRCh37: 11:94180394-94180395 GRCh38: 11:94447228-94447229
21	MSH6	NM_001281492.1(MSH6):c.238-2679dup	Duplication	Pathogenic	486915	rs1553411409	GRCh37: 2:48023066-48023067 GRCh38: 2:47795927-47795928
22	RAD51D , RAD51L3-RFFL	NM_002878.3(RAD51D):c.216C>A (p.Tyr72Ter)	SNV	Pathogenic	480544	rs148690585	GRCh37: 17:33445567-33445567 GRCh38: 17:35118548-35118548
23	CDH1	NM_004360.5(CDH1):c.1679dup (p.Tyr561fs)	Duplication	Pathogenic	479514	rs1555516567	GRCh37: 16:68853295-68853296 GRCh38: 16:68819392-68819393
24	CDH1	NM_004360.5(CDH1):c.2029dup (p.Gln677fs)	Duplication	Pathogenic	483251	rs1555517100	GRCh37: 16:68857392-68857393 GRCh38: 16:68823489-68823490
25	ATM	NM_000051.3(ATM):c.1978dup (p.Met660fs)	Duplication	Pathogenic	482732	rs1555073243	GRCh37: 11:108124619-108124620 GRCh38: 11:108253892-108253893
26	NF1	NM_000267.3(NF1):c.560del (p.Cys187fs)	Deletion	Pathogenic	480102	rs1555607107	GRCh37: 17:29496989-29496989 GRCh38: 17:31169971-31169971
27	NF1	NM_000267.3(NF1):c.3161_3165del (p.Asn1054fs)	Deletion	Pathogenic	485960	rs1555614642	GRCh37: 17:29557904-29557908 GRCh38: 17:31230886-31230890
28	RAD51D , RAD51L3-RFFL	NM_002878.3(RAD51D):c.649G>T (p.Gly217Ter)	SNV	Pathogenic	484764	rs775365939	GRCh37: 17:33430491-33430491 GRCh38: 17:35103472-35103472
29	MRE11	NM_005591.3(MRE11):c.170T>G (p.Leu57Ter)	SNV	Pathogenic	479719	rs951805101	GRCh37: 11:94219234-94219234 GRCh38: 11:94486068-94486068
30	MSH2	NM_000251.2(MSH2):c.1350del (p.Gln451fs)	Deletion	Pathogenic	485844	rs1553361261	GRCh37: 2:47672758-47672758 GRCh38: 2:47445619-47445619
31	PTCH1	NM_000264.5(PTCH1):c.1603-2A>C	SNV	Pathogenic	486220	rs1064793921	GRCh37: 9:98238443-98238443 GRCh38: 9:95476161-95476161
32	ATM , C11orf65	NM_001330368.2(C11orf65):c.641-38239_641-38238del	Deletion	Pathogenic	479069	rs1232259438	GRCh37: 11:108218036-108218037 GRCh38: 11:108347309-108347310
33	MSH2	NM_000251.2(MSH2):c.2246_2250del (p.Glu749fs)	Deletion	Pathogenic	479849	rs1553369665	GRCh37: 2:47705444-47705448 GRCh38: 2:47478305-47478309
34	MSH6	NM_001281492.1(MSH6):c.238-7523del	Deletion	Pathogenic	479975	rs1553410342	GRCh37: 2:48018224-48018224 GRCh38: 2:47791085-47791085
35	CDH1	NM_004360.5(CDH1):c.308G>A (p.Trp103Ter)	SNV	Pathogenic	483227	rs1555514464	GRCh37: 16:68835717-68835717 GRCh38: 16:68801814-68801814
36	PALB2	NM_024675.3(PALB2):c.1429del (p.Thr477fs)	Deletion	Pathogenic	484235	rs1555461287	GRCh37: 16:23646438-23646438 GRCh38: 16:23635117-23635117
37	NF1	NM_000267.3(NF1):c.3778_3782del (p.Met1260fs)	Deletion	Pathogenic	484084	rs1555615462	GRCh37: 17:29562698-29562702 GRCh38: 17:31235680-31235684
38	ATM	NM_000051.3(ATM):c.289del (p.Ile97fs)	Deletion	Pathogenic	236694	rs878853497	GRCh37: 11:108100006-108100006 GRCh38: 11:108229279-108229279
39	PTEN	NM_001304718.2(PTEN):c.-381del	Deletion	Pathogenic	484610	rs1554898123	GRCh37: 10:89692886-89692886 GRCh38: 10:87933129-87933129
40	MLH1	NM_000249.3(MLH1):c.2044_2045del (p.Met682fs)	Deletion	Pathogenic	237329	rs878853785	GRCh37: 3:37090448-37090449 GRCh38: 3:37048957-37048958
41	BMPR1A	NM_004329.2(BMPR1A):c.68-1G>A	SNV	Pathogenic	482869	rs1131691174	GRCh37: 10:88649818-88649818 GRCh38: 10:86890061-86890061
42	NF1	NM_000267.3(NF1):c.3948dup (p.Val1317fs)	Duplication	Pathogenic	484026	rs1555615559	GRCh37: 17:29563012-29563013 GRCh38: 17:31235994-31235995
43	PALB2	NM_024675.3(PALB2):c.2002del (p.Met668fs)	Deletion	Pathogenic	482042	rs1555460526	GRCh37: 16:23641473-23641473 GRCh38: 16:23630152-23630152
44	ATM , C11orf65	NM_000051.3(ATM):c.6027C>G (p.Tyr2009Ter)	SNV	Pathogenic	482675	rs1555113567	GRCh37: 11:108186570-108186570 GRCh38: 11:108315843-108315843
45	BMPR1A	NM_004329.2(BMPR1A):c.874dup (p.Ile292fs)	Duplication	Pathogenic	482884	rs1554891016	GRCh37: 10:88678933-88678934 GRCh38: 10:86919176-86919177
46	BARD1	NM_000465.4(BARD1):c.1371del (p.Asp458fs)	Deletion	Pathogenic	482780	rs1553619704	GRCh37: 2:215633980-215633980 GRCh38: 2:214769256-214769256
47	SMAD4	NM_005359.6(SMAD4):c.1349_1376del (p.Gln450fs)	Deletion	Pathogenic	486450	rs876660720	GRCh37: 18:48603039-48603066 GRCh38: 18:51076669-51076696
48	ATM , C11orf65	NM_000051.3(ATM):c.9064dup (p.Glu3022fs)	Duplication	Pathogenic	370165	rs1057516282	GRCh37: 11:108236127-108236128 GRCh38: 11:108365400-108365401
49	ATM , C11orf65	NM_000051.3(ATM):c.8584+2T>C	SNV	Pathogenic	181899	rs730881326	GRCh37: 11:108216637-108216637 GRCh38: 11:108345910-108345910
50	MLH1	NM_001167618.2(MLH1):c.-182del	Deletion	Pathogenic	483564	rs1553642777	GRCh37: 3:37050392-37050392 GRCh38: 3:37008901-37008901

Sources

Expression for Inherited Cancer-Predisposing Syndrome

Search GEO for disease gene expression data for Inherited Cancer-Predisposing Syndrome.

Sources

Pathways for Inherited Cancer-Predisposing Syndrome

Pathways related to Inherited Cancer-Predisposing Syndrome according to GeneCards Suite gene sharing:

(show all 38)

#	Super pathways	Score	Top Affiliating Genes
1	Gene Expression ⁶⁵ Show member pathways Generic Transcription Pathway ⁶⁵	13.76	FANCC DICER1 CHEK2 CDKN2A CDKN1B BRIP1
2	Cell Cycle, Mitotic ⁶⁵ Show member pathways Cell Cycle ⁶⁵ M Phase ⁶⁵	13.39	CHEK2 CDKN2A CDKN1B BRIP1 BRCA2 BRCA1
3	DNA Double-Strand Break Repair ⁶⁵ Show member pathways Chk1/Chk2(Cds1) mediated inactivation of Cyclin B-Cdk1 complex ⁶⁵ DNA damage_DNA-damage-induced responses ²³ DNA Repair ⁶⁵ G2/M DNA damage checkpoint ⁶⁵ HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA) ⁶⁵ HDR through MMEJ (alt-NHEJ) ⁶⁵ Homology Directed Repair ⁶⁵ Non-homologous end joining ¹ Non-homologous end-joining ³⁶ Processing of DNA double-strand break ends ⁶⁵	13.18	PALB2 FANCC CHEK2 BRIP1 BRCA2 BRCA1
4	Regulation of TP53 Activity ⁶⁵ Show member pathways Regulation of TP53 Activity through Association with Co-factors ⁶⁵ Regulation of TP53 Activity through Methylation ⁶⁵ Regulation of TP53 Activity through Phosphorylation ⁶⁵ Transcriptional Regulation by TP53 ⁶⁵	12.93	FANCC CHEK2 CDKN2A CDKN1B BRIP1 BRCA1
5	TCR Signaling (Qiagen) ⁶³ Show member pathways Fc-EpsilonRI Pathway ⁶³ ITK and TCR Signaling ⁶³ PDGF Pathway ⁶³ PKC-Theta Pathway ⁶³	12.88	CHEK2 BRIP1 BRCA2 BRCA1 BARD1 ATM
6	Aldosterone synthesis and secretion ³⁶ Show member pathways Ca2+ activated K+ channels ⁶⁵ Cortisol synthesis and secretion ³⁶ Cushing syndrome ³⁶ Insulin secretion ³⁶ Melanogenesis ³⁶ Thyroid hormone synthesis ³⁶	12.84	CDKN2A CDKN1B AXIN2 APC AIP
7	Endometrial cancer ³⁶ Show member pathways Acute myeloid leukemia ³⁶ Binding of TCF/LEF-CTNNB1 to target gene promoters ⁶⁵ Chronic myeloid leukemia ³⁶ Colorectal cancer ³⁶ Pancreatic cancer ³⁶ Prostate cancer ³⁶ Signal transduction PTEN pathway ²³ Thyroid cancer ³⁶	12.83	CDKN2A CDKN1B CDH1 BRCA2 AXIN2 APC
8	Pathways in cancer ³⁶	12.81	CDKN2A CDKN1B CDH1 BRCA2 AXIN2 APC
9	Deubiquitination ⁶⁵ Show member pathways Ub-specific processing proteases ⁶⁵	12.78	BRCA1 BARD1 BAP1 AXIN2 APC
10	Gastric cancer ³⁶ Show member pathways Breast cancer ³⁶ Hepatocellular carcinoma ³⁶	12.76	CDKN2A CDKN1B CDH1 BRCA2 BRCA1 AXIN2
11	Chks in Checkpoint Regulation ⁶³ Show member pathways DNA Repair Mechanisms ⁶³ Estrogen-mediated S-Phase Entry ⁶³ G2-M Phase Transition ⁶³ Parkinson's Disease Pathway ⁶³ SREBP Proteolysis ⁶³	12.69	FANCC CHEK2 CDKN1B BRCA2 BRCA1 BARD1
12	Glioma ³⁶ Show member pathways Endocrine resistance ³⁶ Melanoma ³⁶ Non-small cell lung cancer ³⁶ Signaling Pathways in Glioblastoma ¹	12.65	CDKN2A CDKN1B CDH1 BRCA2 BRCA1 ATM
13	Cell Cycle Checkpoints ⁶⁵ Show member pathways G2/M Checkpoints ⁶⁵	12.62	CHEK2 CDKN1B BRIP1 BRCA1 BLM BARD1
14	MicroRNAs in cancer ³⁶	12.53	DICER1 CDKN2A CDKN1B BRCA1 ATM APC
15	Meiosis ⁶⁵ Show member pathways Meiotic recombination ⁶⁵ Meiotic synapsis ⁶⁵	12.43	BRCA2 BRCA1 BLM ATM
16	DNA Damage ⁴	12.39	CHEK2 CDKN2A CDKN1B BRIP1 BRCA2 BRCA1
17	DNA Damage Response ¹ Show member pathways miRNA Regulation of DNA Damage Response ¹ p53 signaling pathway ³⁶	12.36	CHEK2 CDKN2A CDKN1B BRCA1 ATM
18	Cell cycle ³⁶ ¹	12.36	CHEK2 CDKN2A CDKN1B CDH1 ATM APC
19	DNA Double Strand Break Response ⁶⁵ Show member pathways Nonhomologous End-Joining (NHEJ) ⁶⁵ Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks ⁶⁵ Sensing of DNA Double Strand Breaks ⁶⁵	12.34	CHEK2 BRCA1 BARD1 BAP1 ATM
20	Homologous DNA Pairing and Strand Exchange ⁶⁵ Show member pathways ATR Signaling ¹ HDR through Homologous Recombination (HRR) ⁶⁵ HDR through Single Strand Annealing (SSA) ⁶⁵ Presynaptic phase of homologous DNA pairing and strand exchange ⁶⁵	12.24	PALB2 BRIP1 BRCA2 BRCA1 BLM BARD1
21	Cell cycle Role of SCF complex in cell cycle regulation ²³ Show member pathways Cell cycle ESR1 regulation of G1/S transition ²³ Cell cycle Regulation of G1/S transition (part 1) ²³ Immune response MIF-JAB1 signaling ²³	12.17	CHEK2 CDKN2A CDKN1B BRCA1
22	Hippo signaling pathway ³⁶	12.11	CDH1 BMPR1A AXIN2 APC
23	Resolution of D-loop Structures through Holliday Junction Intermediates ⁶⁵ Show member pathways Homologous recombination ³⁶ Homologous recombination ¹ Resolution of D-Loop Structures ⁶⁵ Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) ⁶⁵	11.98	PALB2 BRIP1 BRCA2 BRCA1 BLM BARD1
24	DNA Damage Response (only ATM dependent) ¹	11.96	CDKN2A CDKN1B ATM APC
25	Fanconi anemia pathway ⁶⁵ ³⁶	11.81	PALB2 FANCC BRIP1 BRCA2 BRCA1 BLM
26	ATM Pathway ⁶³ Show member pathways ATM Signaling Pathway ¹	11.78	CHEK2 BRCA1 ATM
27	Regulation of Wnt-mediated beta catenin signaling and target gene transcription ¹	11.73	CDH1 AXIN2 APC
28	Regulation of TP53 Expression and Degradation ⁶⁵ Show member pathways Regulation of TP53 Degradation ⁶⁵ Regulation of TP53 Expression ⁶⁵	11.69	CHEK2 CDKN2A ATM
29	Platinum drug resistance ³⁶	11.69	CDKN2A BRCA1 ATM
30	E2F transcription factor network ¹	11.69	CDKN1B BRCA1 ATM
31	Regulation of Telomerase ¹	11.64	CDKN1B BLM ATM
32	Pathways Affected in Adenoid Cystic Carcinoma ¹	11.63	CHEK2 BRCA1 ATM
33	DNA damage_ATM/ATR regulation of G1/S checkpoint ²³	11.47	CHEK2 BRCA1 BLM BARD1 ATM
34	BRCA1 Pathway ⁶³ Show member pathways Fanconi's Anaemia Pathway ⁶³	11.42	FANCC CHEK2 BRCA2 BRCA1 BLM BARD1
35	Integrated Breast Cancer Pathway ¹	11.41	CHEK2 CDH1 BRCA2 BRCA1 BMPR1A BLM
36	Integrated Cancer Pathway ¹	11.3	CHEK2 CDKN1B BRCA1 BLM BARD1 ATM
37	BARD1 signaling events ¹	11.26	FANCC BRCA1 BARD1 ATM
38	DDX1 as a regulatory component of the Drosha microprocessor ¹ Show member pathways RNA interference ¹	10.88	DICER1 ATM

Sources

GO Terms for Inherited Cancer-Predisposing Syndrome

Cellular components related to Inherited Cancer-Predisposing Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	nucleus	GO:0005634	10.16	PALB2 FANCC DICER1 CHEK2 CDKN2A CDKN1B
2	nucleoplasm	GO:0005654	9.8	PALB2 FANCC CHEK2 CDKN2A CDKN1B BRIP1
3	chromosome, telomeric region	GO:0000781	9.67	CHEK2 BRCA2 BLM ATM
4	cytoplasm	GO:0005737	9.58	FANCC DICER1 CHEK2 CDKN2A CDKN1B CDH1
5	beta-catenin destruction complex	GO:0030877	9.43	AXIN2 APC
6	BRCA1-A complex	GO:0070531	9.4	BRCA1 BARD1
7	lateral element	GO:0000800	9.33	BRCA2 BRCA1 BLM
8	BRCA1-BARD1 complex	GO:0031436	9.32	BRCA1 BARD1

Biological processes related to Inherited Cancer-Predisposing Syndrome according to GeneCards Suite gene sharing:

(show all 32)

#	Name	GO ID	Score	Top Affiliating Genes
1	cell cycle	GO:0007049	10.08	CHEK2 CDKN2A CDKN1B BRCA2 BRCA1 ATM
2	positive regulation of transcription, DNA-templated	GO:0045893	10.07	CHEK2 CDKN2A CDH1 BRCA2 BRCA1 BLM
3	negative regulation of cell proliferation	GO:0008285	10.01	CDKN2A CDKN1B BRIP1 BAP1 AXIN2 APC
4	protein deubiquitination	GO:0016579	9.95	BRCA1 BARD1 BAP1 APC
5	DNA recombination	GO:0006310	9.85	PALB2 BRCA2 BRCA1 BLM
6	DNA replication	GO:0006260	9.85	BRIP1 BRCA1 BLM BARD1 ATM
7	positive regulation of protein catabolic process	GO:0045732	9.81	CDKN1B BARD1 APC
8	double-strand break repair via nonhomologous end joining	GO:0006303	9.8	BRCA1 BARD1 ATM
9	cell cycle arrest	GO:0007050	9.8	CDKN2A CDKN1B BARD1 ATM APC
10	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	GO:0006977	9.79	CHEK2 CDKN1B ATM
11	positive regulation of cell death	GO:0010942	9.78	CDKN1B AXIN2 APC
12	double-strand break repair	GO:0006302	9.78	CHEK2 BRIP1 BRCA2 BRCA1
13	nucleotide-excision repair	GO:0006289	9.75	FANCC BRIP1 BRCA2
14	DNA damage checkpoint	GO:0000077	9.74	CHEK2 BRIP1 ATM
15	negative regulation of cyclin-dependent protein serine/threonine kinase activity	GO:0045736	9.73	CDKN2A CDKN1B APC
16	somitogenesis	GO:0001756	9.73	PALB2 BMPR1A AXIN2 ATM
17	regulation of signal transduction by p53 class mediator	GO:1901796	9.73	CHEK2 BRIP1 BRCA1 BLM BARD1 ATM
18	double-strand break repair via homologous recombination	GO:0000724	9.72	PALB2 BRCA2 BRCA1 BLM ATM
19	replicative senescence	GO:0090399	9.69	CHEK2 CDKN2A ATM
20	DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator	GO:0006978	9.67	CHEK2 BRCA2 BRCA1
21	intrinsic apoptotic signaling pathway in response to DNA damage	GO:0008630	9.67	CHEK2 BRCA2 BRCA1 ATM
22	positive regulation of DNA damage response, signal transduction by p53 class mediator	GO:0043517	9.65	CDKN2A ATM
23	inner cell mass cell proliferation	GO:0001833	9.65	PALB2 BRCA2
24	cellular response to lithium ion	GO:0071285	9.64	CDKN1B CDH1
25	protein K6-linked ubiquitination	GO:0085020	9.63	BRCA1 BARD1
26	replication fork protection	GO:0048478	9.63	BRCA2 BLM
27	DNA damage induced protein phosphorylation	GO:0006975	9.62	CHEK2 ATM
28	DNA repair	GO:0006281	9.61	PALB2 FANCC CHEK2 BRIP1 BRCA2 BRCA1