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

MCID: INH023 MIFTS: 46	Inherited Cancer-Predisposing Syndrome Categories: Cancer diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways 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 ERK Signaling and Gene Expression. Affiliated tissues include bone and breast, and related phenotypes are Decreased homologous recombination repair frequency and Decreased homologous recombination repair frequency

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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 209)

#	Related Disease	Score	Top Affiliating Genes
1	fanconi anemia, complementation group d1	33.5	PALB2 BRIP1 BRCA2 BRCA1
2	bap1 tumor predisposition syndrome	11.3
3	ring chromosome 7	10.8	TP53 CDK4
4	basaloid lung carcinoma	10.8	TP53 BRCA2 BRCA1
5	fallopian tube clear cell adenocarcinoma	10.8	BRCA2 BRCA1
6	nevus of ota	10.8	TP53 BAP1
7	maxillary sinus adenocarcinoma	10.8	TP53 CDKN1B ATM
8	endosalpingiosis	10.8	TP53 BRCA2 BRCA1
9	ovarian carcinosarcoma	10.8	TP53 BRCA2 BRCA1
10	b-lymphoblastic leukemia/lymphoma with hyperdiploidy	10.8	BRCA2 BRCA1 APC
11	rare malignant breast tumor	10.8	BRCA2 BRCA1
12	mutagen sensitivity	10.8	TP53 BRCA2 BRCA1
13	familial ovarian cancer	10.8	BRIP1 BRCA2 BRCA1
14	vulvar intraepithelial neoplasia	10.8	TP53 CDKN2A CDH1
15	mediastinum liposarcoma	10.8	CDKN2A CDK4 ATM
16	primary peritoneal carcinoma	10.8	TP53 BRCA2 BRCA1
17	esophagus verrucous carcinoma	10.7	TP53 CDKN2A CDH1
18	anal squamous cell carcinoma	10.7	TP53 CDKN2A APC
19	breast-ovarian cancer, familial 1	10.7	PALB2 BRCA2 BRCA1
20	pituitary carcinoma	10.7	TP53 BRCA2 AIP
21	hyperplastic polyposis syndrome	10.7	TP53 APC
22	synchronous bilateral breast carcinoma	10.7	BRCA2 BRCA1
23	ovary transitional cell carcinoma	10.7	BRCA2 BRCA1
24	t-cell prolymphocytic leukemia	10.7	CHEK2 CDKN1B ATM
25	prostate squamous cell carcinoma	10.7	TP53 CDKN2A
26	hypertrophy of breast	10.7	TP53 BRCA2 BRCA1
27	carcinosarcoma	10.7	TP53 CDKN2A CDH1
28	female reproductive endometrioid cancer	10.7	TP53 BRCA2 BRCA1
29	keratinizing squamous cell carcinoma	10.7	TP53 CDKN2A CDH1
30	fallopian tube disease	10.7	TP53 PALB2 BRCA2 BRCA1
31	fanconi anemia, complementation group n	10.7	PALB2 BRIP1 BRCA2
32	hereditary site-specific ovarian cancer syndrome	10.7	BRCA2 BRCA1
33	papillary serous adenocarcinoma	10.7	TP53 BRCA2 BRCA1
34	colonic benign neoplasm	10.7	TP53 CDH1 AXIN2 APC
35	multiple endocrine neoplasia, type iv	10.7	CDKN1B CDC73 AIP
36	familial isolated pituitary adenoma	10.7	CDKN1B AIP
37	familial retinoblastoma	10.7	TP53 CDKN2A CDK4
38	myasthenic syndrome, congenital, 6, presynaptic	10.7	TP53 BRCA2 BRCA1
39	endometrial squamous cell carcinoma	10.7	TP53 CDKN2A
40	low-grade astrocytoma	10.7	TP53 CDKN2A CDKN1B
41	malignant peritoneal mesothelioma	10.7	CDKN2A BAP1
42	prolymphocytic leukemia	10.7	TP53 CHEK2 CDKN1B ATM
43	nodular malignant melanoma	10.7	TP53 CDKN2A CDK4
44	telangiectasis	10.7	CHEK2 BMPR1A ATM
45	tumor predisposition syndrome	10.7	PALB2 DICER1 BRCA2 BAP1
46	fanconi anemia, complementation group j	10.7	PALB2 BRIP1 BRCA2 BRCA1
47	mixed cell type cancer	10.7	TP53 CDH1 BRCA1
48	intestinal benign neoplasm	10.7	TP53 CDH1 AXIN2 APC
49	hypopharynx cancer	10.7	TP53 CDKN2A CDH1
50	serous cystadenocarcinoma	10.7	TP53 CDKN2A BRCA2 BRCA1

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 26)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased homologous recombination repair frequency	GR00151-A-1	10.41	BARD1 BRCA1
2	Decreased homologous recombination repair frequency	GR00151-A-2	10.41	BRCA1
3	Decreased homologous recombination repair frequency	GR00236-A-1	10.41	BARD1 BRCA1 BRCA2 CDC73 PALB2
4	Decreased homologous recombination repair frequency	GR00236-A-2	10.41	BARD1 BRCA1 BRCA2 CDC73 PALB2
5	Decreased homologous recombination repair frequency	GR00236-A-3	10.41	BARD1 BRCA1 BRCA2 CDC73 PALB2
6	Decreased viability	GR00221-A-1	10.33	BMPR1A CDKN2A
7	Decreased viability	GR00221-A-2	10.33	BMPR1A BRCA1 CHEK2
8	Decreased viability	GR00221-A-3	10.33	ATM BMPR1A BRCA1 CDKN2A CHEK2
9	Decreased viability	GR00221-A-4	10.33	ATM BMPR1A CDKN2A CHEK2
10	Decreased viability	GR00249-S	10.33	BMPR1A
11	Decreased viability	GR00301-A	10.33	BRCA1
12	Decreased viability	GR00342-S-2	10.33	CHEK2
13	Increased viability with MLN4924 (a NAE inhibitor)	GR00250-A-1	10.3	ATM BARD1 BLM CHEK2 TP53
14	Increased viability with MLN4924 (a NAE inhibitor)	GR00250-A-2	10.3	ATM BARD1 BLM BRCA1 BRIP1 CDKN2A
15	Increased viability with MLN4924 (a NAE inhibitor)	GR00250-A-3	10.3	ATM BARD1 BLM BRCA1 BRCA2 BRIP1
16	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-1	10.25	BARD1 BRCA1 BRCA2 CDKN2A PALB2
17	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-2	10.25	ATM BLM BRCA1 BRCA2 CDKN2A PALB2
18	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-3	10.25	ATM BARD1 BLM BRCA1 BRCA2 CHEK2
19	Decreased substrate adherent cell growth	GR00193-A-2	10.03	BMPR1A CDK4
20	Decreased substrate adherent cell growth	GR00193-A-3	10.03	BMPR1A CDK4 CHEK2
21	Decreased substrate adherent cell growth	GR00193-A-4	10.03	BMPR1A CDK4 CHEK2
22	Increased ionizing radiation sensitivity	GR00232-A-1	9.8	ATM BARD1 BRCA1 BRCA2 CDC73 CDH1
23	Decreased viability with cisplatin	GR00101-A-4	9.67	BARD1 BRCA1 BRCA2 BRIP1
24	Decreased cell–culture–derived Hepatitis C virus (HCVcc; Luc–Jc1) infection	GR00234-A-2	9.65	ATM CDK4 CDKN1B
25	Synthetic lethal with cisplatin	GR00101-A-1	9.46	BARD1 BRCA1 BRCA2 BRIP1
26	Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation	GR00016-A	9.1	APC AXIN2 BARD1 BRCA1 BRCA2 CDK4

MGI Mouse Phenotypes related to Inherited Cancer-Predisposing Syndrome:

⁴⁵ (show all 25)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	10.61	AIP APC ATM AXIN2 BAP1 BARD1
2	embryo	MP:0005380	10.55	AIP APC ATM AXIN2 BAP1 BARD1
3	endocrine/exocrine gland	MP:0005379	10.54	AIP APC ATM AXIN2 BAP1 BARD1
4	growth/size/body region	MP:0005378	10.53	AIP APC ATM AXIN2 BAP1 BARD1
5	cardiovascular system	MP:0005385	10.52	AIP APC ATM AXIN2 BAP1 BLM
6	homeostasis/metabolism	MP:0005376	10.49	AIP APC ATM BAP1 BARD1 BMPR1A
7	integument	MP:0010771	10.49	AIP APC ATM AXIN2 BAP1 BLM
8	mortality/aging	MP:0010768	10.47	AIP APC ATM AXIN2 BAP1 BARD1
9	behavior/neurological	MP:0005386	10.44	APC ATM BMPR1A BRCA1 BRCA2 BRIP1
10	neoplasm	MP:0002006	10.43	AIP APC ATM BAP1 BARD1 BLM
11	immune system	MP:0005387	10.42	APC ATM BAP1 BLM BMPR1A BRCA1
12	hematopoietic system	MP:0005397	10.41	APC ATM BAP1 BLM BMPR1A BRCA1
13	digestive/alimentary	MP:0005381	10.38	APC AXIN2 BAP1 BMPR1A BRCA1 BRCA2
14	nervous system	MP:0003631	10.34	APC ATM AXIN2 BARD1 BMPR1A BRCA1
15	craniofacial	MP:0005382	10.21	APC AXIN2 BMPR1A CDC73 CDK4 CDKN1B
16	reproductive system	MP:0005389	10.19	APC ATM AXIN2 BAP1 BARD1 BMPR1A
17	limbs/digits/tail	MP:0005371	10.18	APC AXIN2 BMPR1A BRCA1 BRCA2 BRIP1
18	muscle	MP:0005369	10.18	APC BAP1 BMPR1A BRCA1 CDC73 CDK4
19	liver/biliary system	MP:0005370	10.16	AIP APC BRIP1 CDC73 CDK4 CDKN1B
20	normal	MP:0002873	10.11	APC AXIN2 BARD1 BLM BMPR1A BRCA1
21	no phenotypic analysis	MP:0003012	10.01	AXIN2 BAP1 BLM CDH1 CDKN1B CDKN2A
22	pigmentation	MP:0001186	9.92	APC BMPR1A BRCA1 BRIP1 CDK4 CDKN1B
23	respiratory system	MP:0005388	9.76	BAP1 BMPR1A BRCA1 CDC73 CDKN1B CDKN2A
24	skeleton	MP:0005390	9.7	APC AXIN2 BMPR1A BRCA1 BRCA2 CDC73
25	vision/eye	MP:0005391	9.28	APC AXIN2 BMPR1A BRIP1 CDK4 CDKN1B

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Drugs & Therapeutics for Inherited Cancer-Predisposing Syndrome

Search Clinical Trials , 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

Bone, Breast

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Publications for Inherited Cancer-Predisposing Syndrome

Articles related to Inherited Cancer-Predisposing Syndrome:

#	Title	Authors	PMID	Year
1	A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. ⁶	Hampel H...Guideline Development Group, American College of Medical Genetics and Genomics Professional Practice and Guidelines Committee and National Society of Genetic Counselors Practice Guidelines Committee	25394175	2015
2	NBN Gene Analysis and it's Impact on Breast Cancer. ⁶¹	Nithya P...ChandraSekar A	31278556	2019
3	Assessment of structurally and functionally high-risk nsSNPs impacts on human bone morphogenetic protein receptor type IA (BMPR1A) by computational approach. ⁶¹	Islam MJ...Reza MA	30884445	2019
4	Prenatal diagnosis in a hereditary Peutz-Jeghers syndrome family with high cancer risk. ⁶¹	Wang Z...Wu B	29720104	2018
5	Transcriptional landscape of a RETC634Y-mutated iPSC and its CRISPR-corrected isogenic control reveals the putative role of EGR1 transcriptional program in the development of multiple endocrine neoplasia type 2A-associated cancers. ⁶¹	Hadoux J...Turhan AG	29197744	2018
6	Familial Colorectal Cancer Type X in Central Iran: A New Clinicopathologic Description. ⁶¹	Zeinalian M...Emami MH	28989591	2017
7	Immunohistochemical analysis of mismatch repair proteins in Iranian colorectal cancer patients at risk for lynch syndrome. ⁶¹	Zeinalian M...Hashemzadeh-Chaleshtori M	25821566	2015
8	p53 and disease: when the guardian angel fails. ⁶¹	Royds JA...Iacopetta B	16557268	2006
9	Challenging pedigrees seen in a hereditary cancer consultation center. ⁶¹	Lynch HT...Attard TM	15350297	2004

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Genes for Inherited Cancer-Predisposing Syndrome

Genes related to Inherited Cancer-Predisposing Syndrome (64 elite genes):

(show top 50) (show all 65)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PALB2	Partner And Localizer Of BRCA2	Protein Coding	525	Pathogenic/Likely pathogenic ⁶ Pathogenic ⁶ Genetic Tests ²⁹ Risk factor ⁶	25394175
2	APC	APC Regulator Of WNT Signaling Pathway	Protein Coding	425	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Risk factor ⁶	25394175
3	CHEK2	Checkpoint Kinase 2	Protein Coding	425	Pathogenic/Likely pathogenic ⁶ Pathogenic ⁶ Risk factor ⁶	25394175
4	TP53	Tumor Protein P53	Protein Coding	425	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Drug response ⁶	25394175
5	AIP	Aryl Hydrocarbon Receptor Interacting Protein	Protein Coding	400	Pathogenic ⁶	25394175
6	ATM	ATM Serine/Threonine Kinase	Protein Coding	400	Pathogenic/Likely pathogenic ⁶ Pathogenic ⁶	25394175
7	AXIN2	Axin 2	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
8	BAP1	BRCA1 Associated Protein 1	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
9	BARD1	BRCA1 Associated RING Domain 1	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
10	BLM	BLM RecQ Like Helicase	Protein Coding	400	Pathogenic/Likely pathogenic ⁶ Pathogenic ⁶	25394175
11	BMPR1A	Bone Morphogenetic Protein Receptor Type 1A	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
12	BRCA1	BRCA1 DNA Repair Associated	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
13	BRCA2	BRCA2 DNA Repair Associated	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
14	BRIP1	BRCA1 Interacting Protein C-Terminal Helicase 1	Protein Coding	400	Pathogenic/Likely pathogenic ⁶ Pathogenic ⁶	25394175
15	CDC73	Cell Division Cycle 73	Protein Coding	400	Pathogenic ⁶	25394175
16	CDH1	Cadherin 1	Protein Coding	400	Pathogenic/Likely pathogenic ⁶ Pathogenic ⁶	25394175
17	CDK4	Cyclin Dependent Kinase 4	Protein Coding	400	Pathogenic ⁶	25394175
18	CDKN1B	Cyclin Dependent Kinase Inhibitor 1B	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
19	CDKN2A	Cyclin Dependent Kinase Inhibitor 2A	Protein Coding	400	Pathogenic/Likely pathogenic ⁶ Pathogenic ⁶	25394175
20	DICER1	Dicer 1, Ribonuclease III	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
21	EXT2	Exostosin Glycosyltransferase 2	Protein Coding	400	Pathogenic ⁶	25394175
22	FANCC	FA Complementation Group C	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
23	FH	Fumarate Hydratase	Protein Coding	400	Pathogenic/Likely pathogenic ⁶ Pathogenic ⁶	25394175
24	FLCN	Folliculin	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
25	MAX	MYC Associated Factor X	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
26	MEN1	Menin 1	Protein Coding	400	Pathogenic/Likely pathogenic ⁶ Pathogenic ⁶	25394175
27	MET	MET Proto-Oncogene, Receptor Tyrosine Kinase	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
28	MLH1	MutL Homolog 1	Protein Coding	400	Pathogenic/Likely pathogenic ⁶ Pathogenic ⁶	25394175
29	MRE11	MRE11 Homolog, Double Strand Break Repair Nuclease	Protein Coding	400	Pathogenic/Likely pathogenic ⁶ Pathogenic ⁶	25394175
30	MSH2	MutS Homolog 2	Protein Coding	400	Pathogenic/Likely pathogenic ⁶ Pathogenic ⁶	25394175
31	MSH3	MutS Homolog 3	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
32	MSH6	MutS Homolog 6	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
33	MUTYH	MutY DNA Glycosylase	Protein Coding	400	Pathogenic/Likely pathogenic ⁶ Pathogenic ⁶	25394175
34	NBN	Nibrin	Protein Coding	400	Pathogenic/Likely pathogenic ⁶ Pathogenic ⁶	25394175
35	NF1	Neurofibromin 1	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
36	NTHL1	Nth Like DNA Glycosylase 1	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
37	PMS2	PMS1 Homolog 2, Mismatch Repair System Component	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
38	POLD1	DNA Polymerase Delta 1, Catalytic Subunit	Protein Coding	400	Pathogenic/Likely pathogenic ⁶ Pathogenic ⁶	25394175
39	POLE	DNA Polymerase Epsilon, Catalytic Subunit	Protein Coding	400	Pathogenic ⁶	25394175
40	POT1	Protection Of Telomeres 1	Protein Coding	400	Pathogenic ⁶	25394175
41	PTCH1	Patched 1	Protein Coding	400	Pathogenic/Likely pathogenic ⁶ Pathogenic ⁶	25394175
42	PTEN	Phosphatase And Tensin Homolog	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
43	RAD50	RAD50 Double Strand Break Repair Protein	Protein Coding	400	Pathogenic/Likely pathogenic ⁶ Pathogenic ⁶	25394175
44	RAD51C	RAD51 Paralog C	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
45	RAD51D	RAD51 Paralog D	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
46	RB1	RB Transcriptional Corepressor 1	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
47	RECQL	RecQ Like Helicase	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
48	RET	Ret Proto-Oncogene	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175
49	SDHA	Succinate Dehydrogenase Complex Flavoprotein Subunit A	Protein Coding	400	Pathogenic/Likely pathogenic ⁶ Pathogenic ⁶	25394175
50	SDHAF2	Succinate Dehydrogenase Complex Assembly Factor 2	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶	25394175

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Variations for Inherited Cancer-Predisposing Syndrome

ClinVar genetic disease variations for Inherited Cancer-Predisposing Syndrome:

⁶ (show top 50) (show all 62244) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	FH	NM_000143.3(FH):c.1209del (p.Phe403fs)	deletion	Pathogenic	393580	rs1060499644	1:241665770-241665770	1:241502470-241502470
2	FH	NM_000143.3(FH):c.1041del (p.Gly348fs)	deletion	Pathogenic	393576	rs1060499641	1:241667409-241667409	1:241504109-241504109
3	FH	NM_000143.3(FH):c.553_554insTG (p.Gln185fs)	insertion	Pathogenic	393565	rs768182640	1:241675268-241675269	1:241511968-241511969
4	FH	NM_000143.3(FH):c.239dup (p.Ile81fs)	duplication	Pathogenic	393558	rs1553341942	1:241680509-241680510	1:241517209-241517210
5	TMEM127	NM_001193304.3(TMEM127):c.117_120del (p.Ile41fs)	deletion	Pathogenic	397511	rs121908816	2:96931000-96931003	2:96265262-96265265
6	FH	NM_000143.3(FH):c.722_738+3del	deletion	Pathogenic	393570	rs1064792900	1:241671900-241671919	1:241508600-241508619
7	PALB2	NM_024675.3(PALB2):c.3311del (p.Gly1104fs)	deletion	Pathogenic	402307	rs1060499828	16:23619224-23619224	16:23607903-23607903
8	PALB2	NM_024675.3(PALB2):c.2850del (p.Ser951fs)	deletion	Pathogenic	402303	rs1060499824	16:23634436-23634436	16:23623115-23623115
9	PALB2	NM_024675.3(PALB2):c.2832del (p.Arg945fs)	deletion	Pathogenic	402302	rs1060499823	16:23635332-23635332	16:23624011-23624011
10	PALB2	NM_024675.3(PALB2):c.2092del (p.Leu698fs)	deletion	Pathogenic	402296	rs1060499819	16:23641383-23641383	16:23630062-23630062
11	PALB2	NM_024675.3(PALB2):c.1817_1818del (p.Phe606fs)	deletion	Pathogenic	402295	rs1060499818	16:23641657-23641658	16:23630336-23630337
12	PALB2	NM_024675.3(PALB2):c.1591_1592del (p.Leu531fs)	deletion	Pathogenic	402294	rs180177102	16:23646275-23646276	16:23634954-23634955
13	PALB2	NM_024675.3(PALB2):c.1186dup (p.Cys396fs)	duplication	Pathogenic	402291	rs1555461413	16:23646680-23646681	16:23635359-23635360
14	PALB2	NM_024675.3(PALB2):c.1114dup (p.Ser372fs)	duplication	Pathogenic	402290	rs1060499815	16:23646752-23646753	16:23635431-23635432
15	PALB2	NM_024675.3(PALB2):c.1047_1050del (p.Asn349fs)	deletion	Pathogenic	402287	rs1060499813	16:23646817-23646820	16:23635496-23635499
16	PALB2	NM_024675.3(PALB2):c.1039G>T (p.Glu347Ter)	SNV	Pathogenic	402286	rs1060499812	16:23646828-23646828	16:23635507-23635507
17	PALB2	NM_024675.3(PALB2):c.976dup (p.Ser326fs)	duplication	Pathogenic	402313	rs1555461517	16:23646890-23646891	16:23635569-23635570
18	PALB2	NM_024675.3(PALB2):c.106C>T (p.Gln36Ter)	SNV	Pathogenic	402288	rs757369748	16:23649393-23649393	16:23638072-23638072
19	PALB2	NM_024675.3(PALB2):c.931A>T (p.Lys311Ter)	SNV	Pathogenic	402311	rs1060499831	16:23646936-23646936	16:23635615-23635615
20	SDHC	NM_003001.5(SDHC):c.1A>G (p.Met1Val)	SNV	Pathogenic	407060	rs755235380	1:161284196-161284196	1:161314406-161314406
21	SDHB	NM_003000.2(SDHB):c.717dup (p.Leu240fs)	duplication	Pathogenic	412481	rs1060503764	1:17349150-17349151	1:17022655-17022656
22	SDHB	NM_003000.2(SDHB):c.591del (p.Ser198fs)	deletion	Pathogenic	412462	rs1060503757	1:17350519-17350519	1:17024024-17024024
23	FH	NM_000143.3(FH):c.204T>A (p.Tyr68Ter)	SNV	Pathogenic	405883	rs1060500883	1:241680545-241680545	1:241517245-241517245
24	MUTYH	NM_001128425.1(MUTYH):c.586G>T (p.Glu196Ter)	SNV	Pathogenic	406822	rs745921592	1:45798350-45798350	1:45332678-45332678
25	MUTYH	NM_001128425.1(MUTYH):c.1240C>T (p.Gln414Ter)	SNV	Pathogenic	406824	rs766420907	1:45797175-45797175	1:45331503-45331503
26	MUTYH	NM_001128425.1(MUTYH):c.1281G>A (p.Trp427Ter)	SNV	Pathogenic	406830	rs1060501325	1:45797134-45797134	1:45331462-45331462
27	MSH2	NM_000251.2(MSH2):c.830T>A (p.Leu277Ter)	SNV	Pathogenic	408494	rs786203424	2:47641445-47641445	2:47414306-47414306
28	MSH2	NM_000251.2(MSH2):c.943-1G>T	SNV	Pathogenic	408461	rs12476364	2:47643434-47643434	2:47416295-47416295
29	MSH6	NM_000179.2(MSH6):c.2010del (p.Gly670_Leu671insTer)	deletion	Pathogenic	410470	rs1060502918	2:48027130-48027130	2:47799991-47799991
30	MSH6	NM_000179.2(MSH6):c.2735G>A (p.Trp912Ter)	SNV	Pathogenic	410398	rs1060502876	2:48027857-48027857	2:47800718-47800718
31	MSH6	NM_000179.2(MSH6):c.3188T>G (p.Leu1063Arg)	SNV	Pathogenic	410436	rs1060502901	2:48030574-48030574	2:47803435-47803435
32	MSH6	NM_000179.2(MSH6):c.1572C>A (p.Tyr524Ter)	SNV	Pathogenic	410426	rs587779215	2:48026694-48026694	2:47799555-47799555
33	MSH6	NM_000179.2(MSH6):c.3253del (p.Thr1085fs)	deletion	Pathogenic	410419	rs1060502891	2:48030639-48030639	2:47803500-47803500
34	MSH6	NM_000179.2(MSH6):c.1815_1816del (p.Lys606fs)	deletion	Pathogenic	410412	rs1060502886	2:48026937-48026938	2:47799798-47799799
35	MSH6	NM_000179.2(MSH6):c.2550C>G (p.Tyr850Ter)	SNV	Pathogenic	410471	rs374230313	2:48027672-48027672	2:47800533-47800533
36	MSH6	NM_000179.2(MSH6):c.2991del (p.Lys997fs)	deletion	Pathogenic	410418	rs1060502890	2:48028111-48028111	2:47800972-47800972
37	MSH6	NM_001281492.1(MSH6):c.238-7503_238-7502del	deletion	Pathogenic	410397	rs1060502875	2:48018245-48018246	2:47791106-47791107
38	MSH6	NM_000179.2(MSH6):c.3577_3581del (p.Glu1193fs)	deletion	Pathogenic	410404	rs1060502881	2:48032775-48032779	2:47805636-47805640
39	MLH1	NM_000249.3(MLH1):c.699T>A (p.Cys233Ter)	SNV	Pathogenic	405380	rs764085979	3:37055944-37055944	3:37014453-37014453
40	MLH1	NM_001167617.2(MLH1):c.811dup (p.Ser271fs)	duplication	Pathogenic	405406	rs1060500699	3:37067193-37067194	3:37025702-37025703
41	VHL	NM_198156.3(VHL):c.341-3192dup	duplication	Pathogenic	411979	rs1553619976	3:10188277-10188278	3:10146593-10146594
42	BAP1	NM_004656.4(BAP1):c.65del (p.Phe22fs)	deletion	Pathogenic	412414	rs1060503735	3:52443732-52443732	3:52409716-52409716
43	MLH1	NM_001167617.2(MLH1):c.-22del	deletion	Pathogenic	405387	rs1060500688	3:37042505-37042505	3:37001014-37001014
44	RAD50	NC_000005.10:g.(?_132556924)_(132644621_?)del	deletion	Pathogenic	417427		5:131892616-131980313	5:132556924-132644621
45	APC	NM_000038.6(APC):c.2096G>A (p.Trp699Ter)	SNV	Pathogenic	411494	rs1060503336	5:112173387-112173387	5:112837690-112837690
46	RAD50	NC_000005.10:g.(?_132575777)_(132575928_?)del	deletion	Pathogenic	417430		5:131911469-131911620	5:132575777-132575928
47	APC	NM_000038.6(APC):c.1312+5G>A	SNV	Pathogenic	411416	rs886039507	5:112155046-112155046	5:112819349-112819349
48	RAD50	NC_000005.10:g.(?_132556924)_(132557453_?)del	deletion	Pathogenic	417429		5:131892616-131893145	5:132556924-132557453
49	APC	NM_000038.6(APC):c.3469_3470GA[2] (p.Arg1158fs)	short repeat	Pathogenic	411546	rs786203020	5:112174759-112174760	5:112839062-112839063
50	APC	NM_000038.6(APC):c.1370C>G (p.Ser457Ter)	SNV	Pathogenic	411488	rs1060503333	5:112157650-112157650	5:112821953-112821953

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 top 50) (show all 62)

#	Super pathways	Score	Top Affiliating Genes
1	ERK Signaling ⁶³ Show member pathways ILK Signaling ⁶³ MAPK Signaling ⁶³ Molecular Mechanisms of Cancer ⁶³ Rho Family GTPases ⁶³	13.87	TP53 CHEK2 CDKN2A CDKN1B CDK4 CDH1
2	Gene Expression ⁶⁵ Show member pathways Generic Transcription Pathway ⁶⁵	13.86	TP53 DICER1 CHEK2 CDKN2A CDKN1B CDC73
3	Cell Cycle, Mitotic ⁶⁵ Show member pathways Cell Cycle ⁶⁵ M Phase ⁶⁵	13.46	TP53 CHEK2 CDKN2A CDKN1B CDK4 BRIP1
4	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 ²² 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	13.25	TP53 PALB2 CHEK2 BRIP1 BRCA2 BRCA1
5	PI3K-Akt signaling pathway ³⁶ Show member pathways Human papillomavirus infection ³⁶	13.04	TP53 CDKN1B CDK4 BRCA1 AXIN2 ATM
6	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	13	TP53 CHEK2 CDKN2A CDKN1B BRIP1 BRCA1
7	TCR Signaling (Qiagen) ⁶³ Show member pathways ITK and TCR Signaling ⁶³ PDGF Pathway ⁶³ PKC-Theta Pathway ⁶³ TCR Signaling ⁶³	12.98	TP53 CHEK2 BRIP1 BRCA2 BRCA1 BARD1
8	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	12.95	CDKN2A CDKN1B CDK4 AXIN2 APC AIP
9	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 ²² Thyroid cancer ³⁶	12.93	TP53 CDKN2A CDKN1B CDK4 CDH1 BRCA2
10	Pathways in cancer ³⁶	12.9	TP53 CDKN2A CDKN1B CDK4 CDH1 BRCA2
11	Deubiquitination ⁶⁵ Show member pathways Ub-specific processing proteases ⁶⁵	12.88	TP53 BRCA1 BARD1 BAP1 AXIN2 APC
12	Gastric cancer ³⁶ Show member pathways Breast cancer ³⁶ Hepatocellular carcinoma ³⁶	12.75	TP53 CDKN2A CDKN1B CDK4 CDH1 BRCA2
13	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	12.74	TP53 CHEK2 CDKN1B CDK4 BRCA2 BRCA1
14	Glioma ³⁶ Show member pathways Endocrine resistance ³⁶ Melanoma ³⁶ Non-small cell lung cancer ³⁶ Signaling Pathways in Glioblastoma ¹	12.69	TP53 CDKN2A CDKN1B CDK4 CDH1 BRCA2
15	Cell Cycle Checkpoints ⁶⁵ Show member pathways G2/M Checkpoints ⁶⁵	12.65	TP53 CHEK2 CDKN1B BRIP1 BRCA1 BLM
16	Mitotic G1-G1/S phases ⁶⁵ Show member pathways G1 to S cell cycle control ¹ G1/S Transition ⁶⁵	12.62	TP53 CDKN2A CDKN1B CDK4 ATM
17	MicroRNAs in cancer ³⁶	12.6	TP53 DICER1 CDKN2A CDKN1B BRCA1 ATM
18	Meiosis ⁶⁵ Show member pathways Meiotic recombination ⁶⁵ Meiotic synapsis ⁶⁵	12.56	CDK4 BRCA2 BRCA1 BLM ATM
19	Apoptosis Pathway ⁷⁰ Show member pathways Akt Pathway ⁷⁰ NF-kappaB Pathway ⁷⁰	12.45	TP53 CHEK2 BMPR1A ATM
20	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	12.45	TP53 CHEK2 BRCA1 BARD1 BAP1 ATM
21	WNT Signaling ⁶³	12.43	TP53 CDK4 CDH1 APC
22	Cyclins and Cell Cycle Regulation ⁶³ Show member pathways Cell Cycle Control by BTG Proteins ⁶³ Cyclin D associated events in G1 ⁶⁵ G1 Phase ⁶⁵ G1-S Phase Transition ⁶³ Phosphorylation of proteins involved in G1/S transition by active Cyclin E-Cdk2 complexes ⁶⁵	12.43	TP53 CDKN2A CDKN1B CDK4 ATM
23	DNA Damage Response ¹ Show member pathways miRNA Regulation of DNA Damage Response ¹ p53 signaling pathway ³⁶	12.43	TP53 CHEK2 CDKN2A CDKN1B CDK4 BRCA1
24	Human T-cell leukemia virus 1 infection ³⁶	12.41	TP53 CHEK2 CDKN2A CDK4 ATM
25	Viral carcinogenesis ³⁶	12.33	TP53 CDKN2A CDKN1B CDK4
26	Cell cycle ³⁶ ¹	12.33	TP53 CHEK2 CDKN2A CDKN1B CDK4 CDH1
27	p53 Signaling ⁶³ Show member pathways P53 Pathway ⁶⁶	12.31	TP53 CHEK2 CDK4 BRCA1 ATM
28	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	12.3	PALB2 BRIP1 BRCA2 BRCA1 BLM BARD1
29	Cell cycle Role of SCF complex in cell cycle regulation ²² Show member pathways Cell cycle ESR1 regulation of G1/S transition ²² Cell cycle Regulation of G1/S transition (part 1) ²² Immune response MIF-JAB1 signaling ²²	12.28	CHEK2 CDKN2A CDKN1B CDK4 BRCA1
30	Colorectal Cancer Metastasis ⁶³	12.23	TP53 CDH1 AXIN2 APC
31	Cellular senescence (KEGG) ³⁶	12.22	TP53 CHEK2 CDKN2A CDK4 ATM
32	Hippo signaling pathway ³⁶	12.21	CDH1 BMPR1A AXIN2 APC
33	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	12.12	PALB2 BRIP1 BRCA2 BRCA1 BLM BARD1
34	DNA Damage Response (only ATM dependent) ¹	12.08	TP53 CDKN2A CDKN1B ATM APC
35	Glioblastoma Multiforme ⁶³	12.06	TP53 CDKN2A CDKN1B CDK4 APC
36	Fanconi anemia pathway ⁶⁵ ³⁶	11.96	PALB2 BRIP1 BRCA2 BRCA1 BLM
37	Retinoblastoma (RB) in Cancer ¹	11.92	TP53 CDKN1B CDK4 BARD1
38	ATM Pathway ⁶³ Show member pathways ATM Signaling Pathway ¹	11.91	TP53 CHEK2 BRCA1 ATM
39	Small cell lung cancer ³⁶	11.87	TP53 CDKN1B CDK4
40	Integrated Breast Cancer Pathway ¹	11.84	TP53 CHEK2 CDK4 CDH1 BRCA2 BRCA1
41	DNA Damage ⁴	11.83	TP53 CHEK2 CDKN2A CDKN1B CDK4 CDC73
42	Regulation of TP53 Expression and Degradation ⁶⁵ Show member pathways Regulation of TP53 Degradation ⁶⁵ Regulation of TP53 Expression ⁶⁵	11.82	TP53 CHEK2 CDKN2A ATM
43	Platinum drug resistance ³⁶	11.82	TP53 CDKN2A BRCA1 ATM
44	Bladder cancer ³⁶ ¹	11.81	TP53 CDKN2A CDK4 CDH1
45	Regulation of Wnt-mediated beta catenin signaling and target gene transcription ¹	11.8	CDH1 AXIN2 APC
46	BRCA1 Pathway ⁶³ Show member pathways Fanconi's Anaemia Pathway ⁶³	11.78	TP53 CHEK2 BRCA2 BRCA1 BLM BARD1
47	E2F transcription factor network ¹	11.76	CDKN1B BRCA1 ATM
48	Pathways Affected in Adenoid Cystic Carcinoma ¹	11.75	TP53 CHEK2 BRCA1 ATM
49	Regulation of Telomerase ¹	11.72	CDKN1B BLM ATM
50	p53 pathway ¹	11.66	TP53 CHEK2 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	cytoplasm	GO:0005737	10.09	TP53 DICER1 CHEK2 CDKN2A CDKN1B CDK4
2	nucleus	GO:0005634	9.89	TP53 PALB2 DICER1 CHEK2 CDKN2A CDKN1B
3	protein-containing complex	GO:0032991	9.85	TP53 CDKN1B CDK4 BRCA2 BRCA1 BLM
4	chromosome, telomeric region	GO:0000781	9.58	CHEK2 BLM ATM
5	nucleoplasm	GO:0005654	9.53	TP53 PALB2 CHEK2 CDKN2A CDKN1B CDK4
6	beta-catenin destruction complex	GO:0030877	9.46	AXIN2 APC
7	BRCA1-A complex	GO:0070531	9.43	BRCA1 BARD1
8	lateral element	GO:0000800	9.43	BRCA2 BRCA1 BLM
9	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 47)

#	Name	GO ID	Score	Top Affiliating Genes
1	phosphorylation	GO:0016310	10.13	CHEK2 CDKN2A CDKN1B CDK4 BMPR1A ATM
2	positive regulation of transcription, DNA-templated	GO:0045893	10.13	TP53 CHEK2 CDKN2A CDH1 BRCA2 BRCA1
3	negative regulation of apoptotic process	GO:0043066	10.09	TP53 PALB2 CDKN1B CDC73 BARD1
4	negative regulation of cell proliferation	GO:0008285	10.08	TP53 CDKN2A CDKN1B CDC73 BRIP1 BAP1
5	cell cycle	GO:0007049	10.06	TP53 CHEK2 CDKN2A CDKN1B CDK4 CDC73
6	positive regulation of apoptotic process	GO:0043065	10.04	TP53 CDKN2A CDK4 BARD1 ATM APC
7	protein deubiquitination	GO:0016579	10	TP53 BRCA1 BARD1 BAP1 APC
8	heart development	GO:0007507	9.99	TP53 CDKN1B BMPR1A ATM
9	regulation of cell proliferation	GO:0042127	9.98	TP53 CDKN1B CDK4 BRCA1
10	DNA replication	GO:0006260	9.96	BRIP1 BRCA1 BLM BARD1 ATM
11	regulation of cell cycle	GO:0051726	9.94	TP53 CDK4 BAP1 ATM
12	cell cycle arrest	GO:0007050	9.93	TP53 CDKN2A CDKN1B BARD1 ATM APC
13	double-strand break repair via homologous recombination	GO:0000724	9.91	PALB2 BRCA2 BRCA1 BLM ATM
14	double-strand break repair	GO:0006302	9.89	TP53 CHEK2 BRIP1 BRCA2 BRCA1
15	DNA recombination	GO:0006310	9.88	PALB2 BRCA2 BRCA1 BLM
16	multicellular organism growth	GO:0035264	9.87	TP53 PALB2 ATM
17	positive regulation of protein catabolic process	GO:0045732	9.86	CDKN1B BARD1 APC
18	double-strand break repair via nonhomologous end joining	GO:0006303	9.85	BRCA1 BARD1 ATM
19	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	GO:0006977	9.85	TP53 CHEK2 CDKN1B ATM
20	negative regulation of G1/S transition of mitotic cell cycle	GO:2000134	9.84	CDKN2A CDK4 CDC73
21	intrinsic apoptotic signaling pathway in response to DNA damage	GO:0008630	9.84	CHEK2 BRCA2 BRCA1 ATM
22	regulation of cyclin-dependent protein serine/threonine kinase activity	GO:0000079	9.83	CDKN1B CDK4 BLM
23	positive regulation of cell death	GO:0010942	9.83	CDKN1B AXIN2 APC
24	embryonic organ development	GO:0048568	9.81	TP53 PALB2 BMPR1A
25	nucleotide-excision repair	GO:0006289	9.8	TP53 BRIP1 BRCA2
26	DNA damage checkpoint	GO:0000077	9.8	CHEK2 BRIP1 ATM
27	negative regulation of cyclin-dependent protein serine/threonine kinase activity	GO:0045736	9.79	CDKN2A CDKN1B APC
28	cellular response to gamma radiation	GO:0071480	9.79	TP53 CHEK2 ATM
29	intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	GO:0042771	9.77	TP53 CHEK2 BRCA2
30	response to gamma radiation	GO:0010332	9.77	TP53 CHEK2 BRCA2
31	somitogenesis	GO:0001756	9.77	TP53 PALB2 BMPR1A AXIN2 ATM
32	DNA repair	GO:0006281	9.76	PALB2 CHEK2 BRIP1 BRCA2 BRCA1 BLM
33	response to X-ray	GO:0010165	9.75	TP53 BRCA2 BLM
34	DNA double-strand break processing	GO:0000729	9.73	BRCA1 BLM BARD1 ATM
35	cellular response to lithium ion	GO:0071285	9.7	CDKN1B CDH1
36	inner cell mass cell proliferation	GO:0001833	9.7	PALB2 BRCA2
37	regulation of cellular senescence	GO:2000772	9.69	TP53 BMPR1A
38	protein K6-linked ubiquitination	GO:0085020	9.68	BRCA1 BARD1
39	replication fork protection	GO:0048478	9.68	BRCA2 BLM
40	DNA damage induced protein phosphorylation	GO:0006975	9.67	CHEK2 ATM
41	DNA strand renaturation	GO:0000733	9.67	TP53 BLM
42	cellular response to indole-3-methanol	GO:0071681	9.65	CDH1 BRCA1
43	chordate embryonic development	GO:0043009	9.64	BRCA2 BRCA1
44	DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator	GO:0006978	9.62	TP53 CHEK2 BRCA2 BRCA1
45	replicative senescence	GO:0090399	9.56	TP53 CHEK2 CDKN2A ATM
46	regulation of signal transduction by p53 class mediator	GO:1901796	9.5	TP53 CHEK2 BRIP1 BRCA1 BLM BARD1
47	cellular response to DNA damage stimulus	GO:0006974	9.32	TP53 PALB2 CHEK2 BRIP1 BRCA2 BRCA1

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

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	identical protein binding	GO:0042802	10.02	TP53 CHEK2 CDH1 BRCA2 BRCA1 BLM
2	DNA binding	GO:0003677	9.97	TP53 PALB2 DICER1 CDKN2A BRIP1 BRCA2
3	protein kinase binding	GO:0019901	9.77	TP53 CHEK2 CDKN2A CDKN1B APC
4	ATP binding	GO:0005524	9.76	TP53 DICER1 CHEK2 CDK4 BRIP1 BMPR1A
5	kinase activity	GO:0016301	9.73	CHEK2 CDKN2A CDKN1B CDK4 BMPR1A ATM
6	beta-catenin binding	GO:0008013	9.63	CDH1 AXIN2 APC
7	protein binding	GO:0005515	9.62	TP53 PALB2 DICER1 CHEK2 CDKN2A CDKN1B
8	gamma-catenin binding	GO:0045295	9.49	CDH1 APC
9	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	9.43	BRIP1 BLM
10	cyclin-dependent protein serine/threonine kinase inhibitor activity	GO:0004861	9.4	CDKN2A CDKN1B
11	ubiquitin protein ligase binding	GO:0031625	9.35	TP53 CHEK2 BRCA1 AXIN2 APC

Sources

Sources for Inherited Cancer-Predisposing Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

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¹² Disease Ontology

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¹⁶ DrugBank

¹⁷ EFO

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¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia