MCID: INH023
MIFTS: 46

Inherited Cancer-Predisposing Syndrome

Categories: Cancer diseases, Rare diseases

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:



External Ids:

Orphanet 58 ORPHA140162

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

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:



Diseases related to Inherited Cancer-Predisposing Syndrome

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

Drugs & Therapeutics for Inherited Cancer-Predisposing Syndrome

Search Clinical Trials , NIH Clinical Center for Inherited Cancer-Predisposing Syndrome

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

Anatomical Context for Inherited Cancer-Predisposing Syndrome

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

40
Bone, Breast

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
25394175 2015
2
NBN Gene Analysis and it's Impact on Breast Cancer. 61
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
30884445 2019
4
Prenatal diagnosis in a hereditary Peutz-Jeghers syndrome family with high cancer risk. 61
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
29197744 2018
6
Familial Colorectal Cancer Type X in Central Iran: A New Clinicopathologic Description. 61
28989591 2017
7
Immunohistochemical analysis of mismatch repair proteins in Iranian colorectal cancer patients at risk for lynch syndrome. 61
25821566 2015
8
p53 and disease: when the guardian angel fails. 61
16557268 2006
9
Challenging pedigrees seen in a hereditary cancer consultation center. 61
15350297 2004

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+3deldeletion 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>TSNV 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_238-7502deldeletion 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.341-3192dupduplication 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.-22deldeletion Pathogenic 405387 rs1060500688 3:37042505-37042505 3:37001014-37001014
44 RAD50 NC_000005.10:g.(?_132556924)_(132644621_?)deldeletion 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_?)deldeletion Pathogenic 417430 5:131911469-131911620 5:132575777-132575928
47 APC NM_000038.6(APC):c.1312+5G>ASNV Pathogenic 411416 rs886039507 5:112155046-112155046 5:112819349-112819349
48 RAD50 NC_000005.10:g.(?_132556924)_(132557453_?)deldeletion 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

Expression for Inherited Cancer-Predisposing Syndrome

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

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
Show member pathways
13.87 TP53 CHEK2 CDKN2A CDKN1B CDK4 CDH1
2
Show member pathways
13.86 TP53 DICER1 CHEK2 CDKN2A CDKN1B CDC73
3
Show member pathways
13.46 TP53 CHEK2 CDKN2A CDKN1B CDK4 BRIP1
4
Show member pathways
13.25 TP53 PALB2 CHEK2 BRIP1 BRCA2 BRCA1
5
Show member pathways
13.04 TP53 CDKN1B CDK4 BRCA1 AXIN2 ATM
6
Show member pathways
13 TP53 CHEK2 CDKN2A CDKN1B BRIP1 BRCA1
7
Show member pathways
12.98 TP53 CHEK2 BRIP1 BRCA2 BRCA1 BARD1
8
Show member pathways
12.95 CDKN2A CDKN1B CDK4 AXIN2 APC AIP
9
Show member pathways
12.93 TP53 CDKN2A CDKN1B CDK4 CDH1 BRCA2
10 12.9 TP53 CDKN2A CDKN1B CDK4 CDH1 BRCA2
11
Show member pathways
12.88 TP53 BRCA1 BARD1 BAP1 AXIN2 APC
12
Show member pathways
12.75 TP53 CDKN2A CDKN1B CDK4 CDH1 BRCA2
13
Show member pathways
12.74 TP53 CHEK2 CDKN1B CDK4 BRCA2 BRCA1
14
Show member pathways
12.69 TP53 CDKN2A CDKN1B CDK4 CDH1 BRCA2
15
Show member pathways
12.65 TP53 CHEK2 CDKN1B BRIP1 BRCA1 BLM
16
Show member pathways
12.62 TP53 CDKN2A CDKN1B CDK4 ATM
17 12.6 TP53 DICER1 CDKN2A CDKN1B BRCA1 ATM
18
Show member pathways
12.56 CDK4 BRCA2 BRCA1 BLM ATM
19
Show member pathways
12.45 TP53 CHEK2 BMPR1A ATM
20
Show member pathways
12.45 TP53 CHEK2 BRCA1 BARD1 BAP1 ATM
21 12.43 TP53 CDK4 CDH1 APC
22
Show member pathways
12.43 TP53 CDKN2A CDKN1B CDK4 ATM
23
Show member pathways
12.43 TP53 CHEK2 CDKN2A CDKN1B CDK4 BRCA1
24 12.41 TP53 CHEK2 CDKN2A CDK4 ATM
25 12.33 TP53 CDKN2A CDKN1B CDK4
26 12.33 TP53 CHEK2 CDKN2A CDKN1B CDK4 CDH1
27
Show member pathways
12.31 TP53 CHEK2 CDK4 BRCA1 ATM
28
Show member pathways
12.3 PALB2 BRIP1 BRCA2 BRCA1 BLM BARD1
29
Show member pathways
12.28 CHEK2 CDKN2A CDKN1B CDK4 BRCA1
30 12.23 TP53 CDH1 AXIN2 APC
31 12.22 TP53 CHEK2 CDKN2A CDK4 ATM
32 12.21 CDH1 BMPR1A AXIN2 APC
33
Show member pathways
12.12 PALB2 BRIP1 BRCA2 BRCA1 BLM BARD1
34 12.08 TP53 CDKN2A CDKN1B ATM APC
35 12.06 TP53 CDKN2A CDKN1B CDK4 APC
36 11.96 PALB2 BRIP1 BRCA2 BRCA1 BLM
37 11.92 TP53 CDKN1B CDK4 BARD1
38
Show member pathways
11.91 TP53 CHEK2 BRCA1 ATM
39 11.87 TP53 CDKN1B CDK4
40 11.84 TP53 CHEK2 CDK4 CDH1 BRCA2 BRCA1
41 11.83 TP53 CHEK2 CDKN2A CDKN1B CDK4 CDC73
42
Show member pathways
11.82 TP53 CHEK2 CDKN2A ATM
43 11.82 TP53 CDKN2A BRCA1 ATM
44 11.81 TP53 CDKN2A CDK4 CDH1
45 11.8 CDH1 AXIN2 APC
46
Show member pathways
11.78 TP53 CHEK2 BRCA2 BRCA1 BLM BARD1
47 11.76 CDKN1B BRCA1 ATM
48 11.75 TP53 CHEK2 BRCA1 ATM
49 11.72 CDKN1B BLM ATM
50 11.66 TP53 CHEK2 ATM

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 for Inherited Cancer-Predisposing Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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