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 breast, lung and skin, and related phenotypes are Decreased viability and Decreased viability

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 179)
# Related Disease Score Top Affiliating Genes
1 fanconi anemia, complementation group d1 33.3 PALB2 FANCC BRIP1 BRCA2 BRCA1
2 bap1 tumor predisposition syndrome 11.3
3 nevus of ota 10.8 TP53 BAP1
4 hereditary site-specific ovarian cancer syndrome 10.8 BRCA2 BRCA1
5 ring chromosome 7 10.8 TP53 CDK4
6 serous cystadenocarcinoma 10.7 TP53 BRCA2 BRCA1
7 rare malignant breast tumor 10.7 BRCA2 BRCA1
8 hyperplastic polyposis syndrome 10.7 TP53 APC
9 mediastinum liposarcoma 10.7 CDKN2A CDK4 ATM
10 endosalpingiosis 10.7 TP53 BRCA2 BRCA1
11 vulvar intraepithelial neoplasia 10.7 TP53 CDKN2A CDH1
12 synchronous bilateral breast carcinoma 10.7 BRCA2 BRCA1
13 mutagen sensitivity 10.7 TP53 BRCA2 BRCA1
14 esophagus verrucous carcinoma 10.7 TP53 CDKN2A CDH1
15 primary peritoneal carcinoma 10.7 TP53 BRCA2 BRCA1
16 urethra clear cell adenocarcinoma 10.7 TP53 CDKN2A ATM
17 familial ovarian cancer 10.7 BRIP1 BRCA2 BRCA1
18 anal squamous cell carcinoma 10.7 TP53 CDKN2A APC
19 tracheoesophageal fistula with or without esophageal atresia 10.7 PALB2 FANCC BRCA2
20 hypertrophy of breast 10.7 TP53 BRCA2 BRCA1
21 malignant peritoneal mesothelioma 10.7 CDKN2A BAP1
22 mediastinum sarcoma 10.7 CDKN2A CDK4 ATM
23 breast juvenile papillomatosis 10.7 BRCA2 BRCA1
24 acinar cell carcinoma 10.7 TP53 BRCA2 APC
25 connective tissue benign neoplasm 10.7 TP53 CDK4 APC
26 female reproductive endometrioid cancer 10.7 TP53 BRCA2 BRCA1
27 dedifferentiated liposarcoma 10.7 TP53 CDKN2A CDK4
28 papillary serous adenocarcinoma 10.7 TP53 BRCA2 BRCA1
29 fallopian tube disease 10.7 TP53 BRCA2 BRCA1
30 familial colorectal cancer 10.7 TP53 CDH1 APC
31 familial retinoblastoma 10.7 TP53 CDKN2A CDK4
32 tetraploidy 10.7 BRCA2 BRCA1
33 esophageal atresia/tracheoesophageal fistula 10.7 FANCC BRIP1 BRCA2
34 cancerophobia 10.7 BRCA2 BRCA1
35 myasthenic syndrome, congenital, 6, presynaptic 10.7 TP53 BRCA2 BRCA1
36 hypopharynx cancer 10.7 TP53 CDKN2A CDH1
37 respiratory system benign neoplasm 10.7 TP53 CDKN2A CDH1
38 colonic benign neoplasm 10.7 TP53 CDH1 APC
39 tumor predisposition syndrome 10.7 PALB2 DICER1 BRCA2 BAP1
40 ovarian seromucinous carcinoma 10.7 TP53 CDKN2A
41 sarcomatoid transitional cell carcinoma 10.7 TP53 CDH1
42 wilms tumor predisposition 10.7 TP53 DICER1 BRCA2 BLM
43 esophagus adenocarcinoma 10.7 TP53 CDKN2A CDH1
44 lobular neoplasia 10.7 TP53 CDH1 BRCA2 BRCA1
45 intrahepatic cholangiocarcinoma 10.7 TP53 CDH1 BAP1 APC
46 thoracic benign neoplasm 10.7 TP53 CDH1 BRCA2 BRCA1
47 breast benign neoplasm 10.7 TP53 CDH1 BRCA2 BRCA1
48 cholangiocarcinoma 10.7 TP53 CDH1 BAP1 APC
49 pleural cancer 10.7 TP53 CDKN2A BAP1
50 luminal breast carcinoma 10.7 TP53 CDH1 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 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.39 BMPR1A CDKN2A
2 Decreased viability GR00221-A-2 10.39 BMPR1A BRCA1 CHEK2
3 Decreased viability GR00221-A-3 10.39 ATM BMPR1A BRCA1 CDKN2A CHEK2
4 Decreased viability GR00221-A-4 10.39 ATM BMPR1A CDKN2A CHEK2
5 Decreased viability GR00301-A 10.39 BRCA1
6 Decreased viability GR00342-S-2 10.39 CHEK2
7 Decreased viability GR00402-S-2 10.39 ATM BMPR1A BRCA1 CDKN2A CHEK2
8 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10.22 ATM BARD1 BLM BRCA1 BRCA2 CDKN2A
9 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.22 ATM BARD1 BLM BRCA1 BRCA2 CDKN2A
10 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 10.03 ABRAXAS1 ATM BAP1 BARD1 BLM BRCA1
11 Decreased substrate adherent cell growth GR00193-A-2 10.01 BMPR1A CDK4
12 Decreased substrate adherent cell growth GR00193-A-3 10.01 BMPR1A CDK4 CHEK2
13 Decreased substrate adherent cell growth GR00193-A-4 10.01 BMPR1A CDK4 CHEK2
14 Decreased homologous recombination repair frequency GR00151-A-1 9.98 BARD1 BRCA1
15 Decreased homologous recombination repair frequency GR00151-A-2 9.98 BRCA1
16 Decreased homologous recombination repair frequency GR00236-A-3 9.98 BARD1 BRCA1 BRCA2 PALB2
17 Decreased viability with cisplatin GR00101-A-4 9.62 BARD1 BRCA1 BRCA2 BRIP1
18 Synthetic lethal with cisplatin GR00101-A-1 9.46 BARD1 BRCA1 BRCA2 BRIP1
19 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 9.1 APC BARD1 BRCA1 BRCA2 CDK4 FH

MGI Mouse Phenotypes related to Inherited Cancer-Predisposing Syndrome:

45 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.56 ABRAXAS1 APC ATM BAP1 BARD1 BLM
2 embryo MP:0005380 10.44 APC ATM BAP1 BARD1 BLM BMPR1A
3 endocrine/exocrine gland MP:0005379 10.4 APC ATM BAP1 BMPR1A BRCA1 BRCA2
4 homeostasis/metabolism MP:0005376 10.4 ABRAXAS1 APC ATM BAP1 BMPR1A BRCA1
5 growth/size/body region MP:0005378 10.39 APC ATM BAP1 BARD1 BLM BMPR1A
6 mortality/aging MP:0010768 10.39 ABRAXAS1 APC ATM BAP1 BARD1 BLM
7 hematopoietic system MP:0005397 10.38 APC ATM BAP1 BLM BMPR1A BRCA1
8 cardiovascular system MP:0005385 10.37 APC ATM BAP1 BLM BMPR1A BRCA1
9 immune system MP:0005387 10.36 APC ATM BAP1 BLM BMPR1A BRCA1
10 integument MP:0010771 10.31 APC ATM BAP1 BLM BMPR1A BRCA1
11 neoplasm MP:0002006 10.3 ABRAXAS1 APC ATM BAP1 BARD1 BLM
12 digestive/alimentary MP:0005381 10.18 APC BAP1 BRCA1 BRCA2 CDH1 CDK4
13 nervous system MP:0003631 10.13 APC ATM BARD1 BMPR1A BRCA1 BRCA2
14 limbs/digits/tail MP:0005371 10.02 APC BMPR1A BRCA1 BRCA2 DICER1 PALB2
15 muscle MP:0005369 10.01 APC BAP1 BMPR1A BRCA1 CDK4 CDKN2A
16 liver/biliary system MP:0005370 10 APC BRIP1 CDK4 CDKN2A DICER1 FANCC
17 normal MP:0002873 9.96 APC BARD1 BLM BMPR1A BRCA1 BRCA2
18 reproductive system MP:0005389 9.8 APC ATM BAP1 BMPR1A BRCA1 BRCA2
19 pigmentation MP:0001186 9.63 APC BMPR1A BRCA1 CDK4 CDKN2A TP53
20 skeleton MP:0005390 9.32 APC BMPR1A BRCA1 BRCA2 CDK4 CDKN2A

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
Breast, Lung, Skin, Ovary, T Cells, Tongue, Bone

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 44730) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BRCA2 NM_000059.3(BRCA2):c.9608_9609AC[1] (p.Thr3204fs)short repeat Pathogenic 479401 rs1555289791 13:32971141-32971142 13:32397004-32397005
2 PALB2 NM_024675.3(PALB2):c.2632G>T (p.Glu878Ter)SNV Pathogenic 484176 rs1555459999 16:23637673-23637673 16:23626352-23626352
3 PALB2 NM_024675.3(PALB2):c.1677del (p.Gln559_Val560insTer)deletion Pathogenic 482002 rs515726073 16:23646190-23646190 16:23634869-23634869
4 PALB2 NM_024675.3(PALB2):c.1429del (p.Thr477fs)deletion Pathogenic 484235 rs1555461287 16:23646438-23646438 16:23635117-23635117
5 PALB2 NM_024675.3(PALB2):c.2194_2200del (p.Gly732fs)deletion Pathogenic 486005 rs1555460457 16:23641275-23641281 16:23629954-23629960
6 PALB2 NM_024675.3(PALB2):c.2175_2176del (p.Pro726fs)deletion Pathogenic 480246 rs1555460463 16:23641299-23641300 16:23629978-23629979
7 PALB2 NM_024675.3(PALB2):c.1327A>T (p.Lys443Ter)SNV Pathogenic 484160 rs1555461339 16:23646540-23646540 16:23635219-23635219
8 PALB2 NM_024675.3(PALB2):c.1059_1077delinsGG (p.Ser354fs)indel Pathogenic 484183 rs1555461460 16:23646790-23646808 16:23635469-23635487
9 RB1 NM_000321.2(RB1):c.1421+1deldeletion Pathogenic 486293 rs1555286576 13:48954220-48954220 13:48380084-48380084
10 PALB2 NM_024675.3(PALB2):c.1675C>T (p.Gln559Ter)SNV Pathogenic 480240 rs1555461154 16:23646192-23646192 16:23634871-23634871
11 PALB2 NM_024675.3(PALB2):c.1064del (p.Ser354_Leu355insTer)deletion Pathogenic 482027 rs1555461472 16:23646803-23646803 16:23635482-23635482
12 PALB2 NM_024675.3(PALB2):c.1440del (p.Lys480fs)deletion Pathogenic 486003 rs1555461278 16:23646427-23646427 16:23635106-23635106
13 PALB2 NM_024675.3(PALB2):c.1873del (p.Glu625fs)deletion Pathogenic 482064 rs1555460609 16:23641602-23641602 16:23630281-23630281
14 MAX NM_002382.5(MAX):c.98dup (p.Arg35fs)duplication Pathogenic 480770 rs1555343169 14:65560498-65560499 14:65093780-65093781
15 PALB2 NM_024675.3(PALB2):c.1008_1009del (p.Leu337fs)deletion Pathogenic 484180 rs1555461502 16:23646858-23646859 16:23635537-23635538
16 PALB2 NM_024675.3(PALB2):c.854C>G (p.Ser285Ter)SNV Pathogenic 486026 rs180177094 16:23647013-23647013 16:23635692-23635692
17 PALB2 NM_024675.3(PALB2):c.844_847del (p.Arg282fs)deletion Pathogenic 482007 rs1555461586 16:23647020-23647023 16:23635699-23635702
18 PALB2 NM_024675.3(PALB2):c.839del (p.Asn280fs)deletion Pathogenic 480243 rs1555461597 16:23647028-23647028 16:23635707-23635707
19 PALB2 NM_024675.3(PALB2):c.1071_1072delTCshort repeat Pathogenic 480287 rs1555461467 16:23646795-23646796 16:23635474-23635475
20 PALB2 NM_024675.3(PALB2):c.1031del (p.Asn344fs)deletion Pathogenic 480252 rs1485260432 16:23646836-23646836 16:23635515-23635515
21 CDH1 NM_004360.5(CDH1):c.529C>T (p.Gln177Ter)SNV Pathogenic 481011 rs1555515232 16:68842468-68842468 16:68808565-68808565
22 PALB2 NM_024675.3(PALB2):c.682C>T (p.Gln228Ter)SNV Pathogenic 484222 rs1327399690 16:23647185-23647185 16:23635864-23635864
23 PALB2 NM_024675.3(PALB2):c.639del (p.Thr214fs)deletion Pathogenic 480268 rs1555461695 16:23647228-23647228 16:23635907-23635907
24 CDH1 NM_004360.5(CDH1):c.308G>A (p.Trp103Ter)SNV Pathogenic 483227 rs1555514464 16:68835717-68835717 16:68801814-68801814
25 CDH1 NM_004360.5(CDH1):c.480_486delinsAGAATA (p.Ile161fs)indel Pathogenic 479524 rs1555515217 16:68842419-68842425 16:68808516-68808522
26 CDH1 NM_004360.5(CDH1):c.594_595insT (p.Thr199fs)insertion Pathogenic 485476 rs1555515264 16:68842658-68842659 16:68808755-68808756
27 CDH1 NM_004360.5(CDH1):c.687+1_687+2deldeletion Pathogenic 483268 rs1555515296 16:68842751-68842752 16:68808848-68808849
28 CDH1 NM_004360.5(CDH1):c.1085del (p.Val362fs)deletion Pathogenic 483264 rs1555515739 16:68846114-68846114 16:68812211-68812211
29 CDH1 NM_004360.5(CDH1):c.2T>C (p.Met1Thr)SNV Pathogenic 486826 rs1555509623 16:68771320-68771320 16:68737417-68737417
30 CDH1 NM_004360.5(CDH1):c.1480G>T (p.Glu494Ter)SNV Pathogenic 485481 rs778871891 16:68849577-68849577 16:68815674-68815674
31 CDH1 NM_004360.5(CDH1):c.382del (p.His128fs)deletion Pathogenic 486824 rs1555514492 16:68835788-68835788 16:68801885-68801885
32 BLM NM_000057.4(BLM):c.1500del (p.Phe500fs)deletion Pathogenic 485348 rs1555419889 15:91304101-91304101 15:90760871-90760871
33 CDH1 NM_004360.5(CDH1):c.1948_1949del (p.Ile650fs)deletion Pathogenic 483276 rs1555517074 16:68857312-68857313 16:68823409-68823410
34 CDH1 NM_004360.5(CDH1):c.1636del (p.Ala546fs)deletion Pathogenic 481028 rs1555516556 16:68853251-68853251 16:68819348-68819348
35 CDH1 NM_004360.5(CDH1):c.1679dup (p.Tyr561fs)duplication Pathogenic 479514 rs1555516567 16:68853295-68853296 16:68819392-68819393
36 CDH1 NM_004360.5(CDH1):c.1390del (p.Val464fs)deletion Pathogenic 483271 rs1555516111 16:68849486-68849486 16:68815583-68815583
37 NF1 NM_001042492.2(NF1):c.240_241TC[2] (p.Ser82_Gln83insTer)short repeat Pathogenic 484139 rs771115661 17:29486063-29486066 17:31159045-31159048
38 NF1 NM_000267.3(NF1):c.560del (p.Cys187fs)deletion Pathogenic 480102 rs1555607107 17:29496989-29496989 17:31169971-31169971
39 NF1 NM_000267.3(NF1):c.663G>A (p.Trp221Ter)SNV Pathogenic 484076 rs1555608737 17:29508736-29508736 17:31181718-31181718
40 CDH1 NM_004360.5(CDH1):c.2506G>T (p.Glu836Ter)SNV Pathogenic 479504 rs1555518239 16:68867259-68867259 16:68833356-68833356
41 NF1 NM_000267.3(NF1):c.955del (p.Ser319fs)deletion Pathogenic 481958 rs876660931 17:29527504-29527504 17:31200486-31200486
42 FLCN NM_144997.7(FLCN):c.1286_1287dup (p.Val430fs)duplication Pathogenic 485615 rs1555607640 17:17119706-17119707 17:17216392-17216393
43 FLCN NM_144997.7(FLCN):c.1153del (p.Gln385fs)deletion Pathogenic 485603 rs1555607960 17:17120406-17120406 17:17217092-17217092
44 PALB2 NM_024675.3(PALB2):c.3246dup (p.Glu1083Ter)duplication Pathogenic 480277 rs1555458211 16:23619288-23619289 16:23607967-23607968
45 NF1 NM_000267.3(NF1):c.191del (p.Asn64fs)deletion Pathogenic 481972 rs1555604941 17:29483130-29483130 17:31156112-31156112
46 NF1 NM_000267.3(NF1):c.1224T>A (p.Tyr408Ter)SNV Pathogenic 485979 rs1555611089 17:29528467-29528467 17:31201449-31201449
47 NF1 NM_000267.3(NF1):c.1811T>A (p.Leu604Ter)SNV Pathogenic 484114 rs1555613427 17:29550551-29550551 17:31223533-31223533
48 PALB2 NM_024675.3(PALB2):c.2962_2963del (p.Gln988fs)deletion Pathogenic 480247 rs1555459528 16:23634323-23634324 16:23623002-23623003
49 NF1 NM_000267.3(NF1):c.2237del (p.Asn746fs)deletion Pathogenic 480107 rs1555613838 17:29553687-29553687 17:31226669-31226669
50 PALB2 NM_024675.3(PALB2):c.2938del (p.Ser980fs)deletion Pathogenic 486018 rs1555459540 16:23634348-23634348 16:23623027-23623027

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 51)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.83 TP53 CHEK2 CDKN2A CDK4 CDH1 BRCA1
2
Show member pathways
13.83 TP53 FANCC DICER1 CHEK2 CDKN2A BRIP1
3
Show member pathways
13.46 TP53 CHEK2 CDKN2A CDK4 BRIP1 BRCA2
4
Show member pathways
13.18 TP53 PALB2 FANCC CHEK2 BRIP1 BRCA2
5
Show member pathways
13.01 TP53 FANCC CHEK2 CDKN2A BRIP1 BRCA1
6
Show member pathways
12.96 TP53 CHEK2 BRIP1 BRCA2 BRCA1 BARD1
7
Show member pathways
12.9 TP53 CDKN2A CDK4 CDH1 BRCA2 APC
8
Show member pathways
12.87 TP53 BRCA1 BARD1 BAP1 APC ABRAXAS1
9 12.87 TP53 FH CDKN2A CDK4 CDH1 BRCA2
10
Show member pathways
12.8 TP53 CDKN2A CDK4 CDH1 BRCA2 BRCA1
11
Show member pathways
12.76 TP53 FANCC CHEK2 CDK4 BRCA2 BRCA1
12
Show member pathways
12.72 TP53 CDKN2A CDK4 CDH1 BRCA2 BRCA1
13
Show member pathways
12.67 TP53 CHEK2 BRIP1 BRCA1 BLM BARD1
14 12.57 TP53 DICER1 CDKN2A BRCA1 ATM APC
15
Show member pathways
12.54 CDK4 BRCA2 BRCA1 BLM ATM
16 12.49 TP53 CHEK2 CDKN2A CDK4 BRIP1 BRCA2
17
Show member pathways
12.43 TP53 CHEK2 BMPR1A ATM
18
Show member pathways
12.43 TP53 CHEK2 CDKN2A CDK4 BRCA1 ATM
19
Show member pathways
12.43 TP53 CHEK2 BRCA1 BARD1 BAP1 ATM
20 12.41 TP53 CDK4 CDH1 APC
21 12.41 TP53 CHEK2 CDKN2A CDK4 CDH1 ATM
22 12.39 TP53 CHEK2 CDKN2A CDK4 ATM
23
Show member pathways
12.35 TP53 CDKN2A CDK4 ATM
24
Show member pathways
12.32 PALB2 BRIP1 BRCA2 BRCA1 BLM BARD1
25
Show member pathways
12.29 TP53 CHEK2 CDK4 BRCA1 ATM
26
Show member pathways
12.24 CHEK2 CDKN2A CDK4 BRCA1
27 12.21 TP53 CHEK2 CDKN2A CDK4 ATM
28
Show member pathways
12.1 PALB2 BRIP1 BRCA2 BRCA1 BLM BARD1
29 12.03 TP53 CDKN2A ATM APC
30 12.01 TP53 CDKN2A CDK4 APC
31 11.9 PALB2 FANCC BRIP1 BRCA2 BRCA1 BLM
32
Show member pathways
11.89 TP53 CHEK2 BRCA1 ATM
33 11.83 TP53 CDK4 BARD1
34
Show member pathways
11.8 TP53 CHEK2 CDKN2A ATM
35 11.8 TP53 CDKN2A BRCA1 ATM
36 11.79 TP53 CDKN2A CDK4 CDH1
37 11.74 TP53 CHEK2 BRCA1 ATM
38 11.64 TP53 CHEK2 ATM
39
Show member pathways
11.52 TP53 CHEK2 ATM
40 11.51 TP53 CHEK2 CDK4 CDH1 BRCA2 BRCA1
41
Show member pathways
11.48 TP53 FANCC CHEK2 BRCA2 BRCA1 BLM
42 11.46 TP53 CHEK2 CDK4 BRCA1 BLM BARD1
43 11.44 BRCA1 BARD1 ABRAXAS1
44 11.43 CHEK2 CDK4 BRCA2
45 11.37 TP53 CDK4 BRCA1 ATM
46 11.35 TP53 CDKN2A CDK4
47 11.34 TP53 CHEK2 CDK4 BRCA1 BLM BARD1
48 11.29 TP53 FANCC BRCA1 BARD1 ATM
49
Show member pathways
11.18 TP53 CDKN2A ATM
50 11.1 TP53 BRCA1 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 10.22 TP53 FH FANCC DICER1 CHEK2 CDKN2A
2 nucleus GO:0005634 10.09 TP53 PALB2 FH FANCC DICER1 CHEK2
3 chromosome, telomeric region GO:0000781 9.58 CHEK2 BLM ATM
4 nucleoplasm GO:0005654 9.5 TP53 PALB2 FANCC CHEK2 CDKN2A CDK4
5 lateral element GO:0000800 9.43 BRCA2 BRCA1 BLM
6 BRCA1-BARD1 complex GO:0031436 9.37 BRCA1 BARD1
7 BRCA1-A complex GO:0070531 9.13 BRCA1 BARD1 ABRAXAS1

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

(show all 39)
# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 10.12 TP53 CHEK2 CDKN2A CDK4 BRCA2 BRCA1
2 negative regulation of cell proliferation GO:0008285 10.06 TP53 CDKN2A BRIP1 BAP1 APC
3 positive regulation of transcription, DNA-templated GO:0045893 10.06 TP53 CHEK2 CDKN2A CDH1 BRCA2 BRCA1
4 positive regulation of apoptotic process GO:0043065 10.04 TP53 CDKN2A CDK4 BARD1 ATM APC
5 DNA replication GO:0006260 9.95 BRIP1 BRCA1 BLM BARD1 ATM
6 protein deubiquitination GO:0016579 9.95 TP53 BRCA1 BARD1 BAP1 APC ABRAXAS1
7 regulation of cell cycle GO:0051726 9.93 TP53 CDK4 BAP1 ATM
8 cell cycle arrest GO:0007050 9.91 TP53 CDKN2A BARD1 ATM APC
9 DNA recombination GO:0006310 9.89 PALB2 BRCA2 BRCA1 BLM
10 double-strand break repair via nonhomologous end joining GO:0006303 9.86 BRCA1 BARD1 ATM ABRAXAS1
11 multicellular organism growth GO:0035264 9.85 TP53 PALB2 ATM
12 somitogenesis GO:0001756 9.84 TP53 PALB2 BMPR1A ATM
13 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.83 CHEK2 BRCA2 BRCA1 ATM
14 double-strand break repair via homologous recombination GO:0000724 9.83 PALB2 BRCA2 BRCA1 BLM ATM
15 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.82 TP53 CHEK2 ATM
16 response to ionizing radiation GO:0010212 9.81 BRCA1 ATM ABRAXAS1
17 embryonic organ development GO:0048568 9.8 TP53 PALB2 BMPR1A
18 nucleotide-excision repair GO:0006289 9.8 TP53 FANCC BRIP1 BRCA2
19 DNA damage checkpoint GO:0000077 9.79 CHEK2 BRIP1 ATM
20 cellular response to gamma radiation GO:0071480 9.79 TP53 CHEK2 ATM
21 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.78 TP53 CHEK2 BRCA2
22 response to gamma radiation GO:0010332 9.77 TP53 CHEK2 BRCA2
23 response to X-ray GO:0010165 9.76 TP53 BRCA2 BLM
24 double-strand break repair GO:0006302 9.73 TP53 CHEK2 BRIP1 BRCA2 BRCA1 ABRAXAS1
25 DNA double-strand break processing GO:0000729 9.71 BRCA1 BLM BARD1 ATM
26 regulation of signal transduction by p53 class mediator GO:1901796 9.7 TP53 CHEK2 BRIP1 BRCA1 BLM BARD1
27 DNA repair GO:0006281 9.7 PALB2 FH FANCC CHEK2 BRIP1 BRCA2
28 inner cell mass cell proliferation GO:0001833 9.68 PALB2 BRCA2
29 regulation of cellular senescence GO:2000772 9.68 TP53 BMPR1A
30 signal transduction involved in G2 DNA damage checkpoint GO:0072425 9.67 BRCA1 ABRAXAS1
31 replication fork protection GO:0048478 9.67 BRCA2 BLM
32 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.67 TP53 CHEK2 BRCA2 BRCA1
33 protein K6-linked ubiquitination GO:0085020 9.66 BRCA1 BARD1
34 DNA damage induced protein phosphorylation GO:0006975 9.65 CHEK2 ATM
35 DNA strand renaturation GO:0000733 9.65 TP53 BLM
36 cellular response to indole-3-methanol GO:0071681 9.64 CDH1 BRCA1
37 chordate embryonic development GO:0043009 9.63 BRCA2 BRCA1
38 replicative senescence GO:0090399 9.62 TP53 CHEK2 CDKN2A ATM
39 cellular response to DNA damage stimulus GO:0006974 9.44 TP53 PALB2 FH FANCC CHEK2 BRIP1

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.97 TP53 PALB2 DICER1 CDKN2A BRIP1 BRCA2
2 ATP binding GO:0005524 9.86 TP53 DICER1 CHEK2 CDK4 BRIP1 BMPR1A
3 protein homodimerization activity GO:0042803 9.7 TP53 EXT2 CHEK2 CDH1 BMPR1A BLM
4 protein binding GO:0005515 9.62 TP53 PALB2 FH FANCC EXT2 DICER1
5 nucleotide binding GO:0000166 9.43 DICER1 CHEK2 CDK4 BRIP1 BLM ATM
6 gamma-catenin binding GO:0045295 9.4 CDH1 APC
7 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides GO:0016818 9.37 BRIP1 BLM

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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