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 59
Hereditary Cancer-Predisposing Syndrome 29 6

Classifications:



External Ids:

Orphanet 59 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 Gene Expression and Cell Cycle, Mitotic. Affiliated tissues include bone and breast, 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 111)
# Related Disease Score Top Affiliating Genes
1 fanconi anemia, complementation group d1 11.6
2 bap1 tumor predisposition syndrome 11.3
3 hereditary site-specific ovarian cancer syndrome 11.0 BRCA2 BRCA1
4 nevus of ota 11.0 TP53 BAP1
5 pancreatic neuroendocrine tumor 11.0 PALB2 BRCA2 ATM
6 ring chromosome 7 11.0 TP53 CDK4
7 anal squamous cell carcinoma 11.0 TP53 CDKN2A APC
8 fanconi anemia, complementation group n 11.0 PALB2 BRIP1 BRCA2
9 isolated tracheoesophageal fistula 11.0 PALB2 FANCC BRCA2
10 tracheoesophageal fistula with or without esophageal atresia 11.0 PALB2 FANCC BRCA2
11 primary peritoneal carcinoma 11.0 TP53 BRCA2 BRCA1
12 mutagen sensitivity 11.0 TP53 BRCA2 BRCA1
13 fallopian tube carcinoma 11.0 TP53 BRCA2 BRCA1
14 dedifferentiated liposarcoma 11.0 TP53 CDKN2A CDK4
15 liposarcoma 11.0 TP53 CDKN2A CDK4
16 tongue disease 11.0 TP53 CDKN2A CDH1
17 clivus chordoma 11.0 CHEK2 CDK4 ATM
18 tonsil cancer 11.0 TP53 CDKN2A CDH1
19 cancerophobia 11.0 BRCA2 BRCA1
20 synchronous bilateral breast carcinoma 11.0 TP53 BRCA2 BRCA1 ATM
21 peritoneum cancer 11.0 PALB2 BRCA2 BRCA1 BAP1
22 breast carcinoma in situ 11.0 TP53 BRCA2 BRCA1
23 nosophobia 11.0 BRCA2 BRCA1
24 oropharynx cancer 11.0 TP53 CDKN2A CDH1
25 pharynx cancer 11.0 TP53 CDKN2A CDH1
26 tuberculous salpingitis 11.0 BRCA2 BRCA1
27 laryngeal disease 10.9 TP53 CDKN2A CDH1
28 peutz-jeghers syndrome 10.9 TP53 BRCA2 APC
29 familial colorectal cancer 10.9 TP53 CDH1 APC
30 dysgerminoma of ovary 10.9 DICER1 BRCA2 BRCA1
31 nasopharyngeal disease 10.9 TP53 CDKN2A CDH1
32 tumor predisposition syndrome 10.9 PALB2 DICER1 BRCA2 BAP1
33 glycogen-rich clear cell breast carcinoma 10.9 TP53 CDKN2A BRCA2 BRCA1
34 cervix disease 10.9 TP53 CDKN2A CDH1
35 retinal cancer 10.9 TP53 CDKN2A CDK4
36 cholecystitis 10.9 TP53 CDKN2A CDH1
37 nijmegen breakage syndrome 10.9 TP53 CHEK2 BRCA1 ATM
38 cervical squamous cell carcinoma 10.9 TP53 CDKN2A CDH1
39 ovary epithelial cancer 10.9 TP53 CDH1 BRCA2 BRCA1
40 congenital hypoplastic anemia 10.9 FANCC BRIP1 BRCA2
41 malignant ovarian surface epithelial-stromal neoplasm 10.9 TP53 CDH1 BRCA2 BRCA1
42 ovarian cancer 1 10.9 TP53 CDH1 BRCA2 BRCA1
43 fanconi anemia, complementation group j 10.9 PALB2 FANCC BRIP1 BRCA1
44 in situ carcinoma 10.9 TP53 CDKN2A CDH1 BRCA1
45 ductal carcinoma in situ 10.9 TP53 CDH1 BRCA2 BRCA1
46 ataxia-telangiectasia 10.9 TP53 CHEK2 BRCA1 ATM
47 cerebral convexity meningioma 10.9 TP53 CDH1
48 tracheoesophageal fistula 10.9 PALB2 FANCC BRIP1 BRCA2
49 familial renal oncocytoma 10.9 FLCN FH
50 pleural disease 10.9 FLCN DICER1 BAP1

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 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.43 BMPR1A CDKN2A
2 Decreased viability GR00221-A-2 10.43 BMPR1A BRCA1 CHEK2
3 Decreased viability GR00221-A-3 10.43 ATM BMPR1A BRCA1 CDKN2A CHEK2
4 Decreased viability GR00221-A-4 10.43 ATM BMPR1A CDKN2A CHEK2
5 Decreased viability GR00301-A 10.43 BRCA1
6 Decreased viability GR00342-S-2 10.43 CHEK2
7 Decreased viability GR00402-S-2 10.43 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 Decreased substrate adherent cell growth GR00193-A-2 10.03 BMPR1A CDK4
11 Decreased substrate adherent cell growth GR00193-A-3 10.03 BMPR1A CDK4 CHEK2
12 Decreased substrate adherent cell growth GR00193-A-4 10.03 BMPR1A CDK4 CHEK2
13 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 10.03 ABRAXAS1 ATM BAP1 BARD1 BLM BRCA1
14 Decreased homologous recombination repair frequency GR00151-A-1 10 BARD1 BRCA1
15 Decreased homologous recombination repair frequency GR00151-A-2 10 BRCA1
16 Decreased homologous recombination repair frequency GR00236-A-3 10 BARD1 BRCA1 BRCA2 PALB2
17 Decreased viability with cisplatin GR00101-A-4 9.62 BARD1 BRCA1 BRCA2 BRIP1
18 Decreased viability after ionizing radiation GR00232-A-2 9.54 ATM BRCA1 BRCA2
19 Synthetic lethal with cisplatin GR00101-A-1 9.46 BARD1 BRCA1 BRCA2 BRIP1
20 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:

46 (show all 21)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.57 APC ATM BAP1 BARD1 BLM BMPR1A
2 embryo MP:0005380 10.45 APC ATM BAP1 BARD1 BLM BMPR1A
3 growth/size/body region MP:0005378 10.43 APC ATM BAP1 BARD1 BLM BMPR1A
4 cardiovascular system MP:0005385 10.41 APC ATM BAP1 BLM BMPR1A BRCA1
5 endocrine/exocrine gland MP:0005379 10.41 APC ATM BAP1 BMPR1A BRCA1 BRCA2
6 homeostasis/metabolism MP:0005376 10.41 APC ATM BAP1 BMPR1A BRCA1 BRCA2
7 immune system MP:0005387 10.4 APC ATM BAP1 BLM BMPR1A BRCA1
8 hematopoietic system MP:0005397 10.39 APC ATM BAP1 BLM BMPR1A BRCA1
9 mortality/aging MP:0010768 10.39 APC ATM BAP1 BARD1 BLM BMPR1A
10 neoplasm MP:0002006 10.33 APC ATM BAP1 BARD1 BLM BMPR1A
11 integument MP:0010771 10.32 APC ATM BAP1 BLM BMPR1A BRCA1
12 digestive/alimentary MP:0005381 10.19 APC BAP1 BRCA1 BRCA2 CDH1 CDK4
13 nervous system MP:0003631 10.18 APC ATM BARD1 BMPR1A BRCA1 BRCA2
14 limbs/digits/tail MP:0005371 10.04 APC BMPR1A BRCA1 BRCA2 DICER1 PALB2
15 muscle MP:0005369 10.03 APC BAP1 BMPR1A BRCA1 CDK4 CDKN2A
16 liver/biliary system MP:0005370 10.02 APC BRIP1 CDK4 CDKN2A DICER1 FANCC
17 normal MP:0002873 9.96 APC BARD1 BLM BMPR1A BRCA1 BRCA2
18 no phenotypic analysis MP:0003012 9.8 BAP1 BLM CDH1 CDKN2A DICER1 TP53
19 pigmentation MP:0001186 9.63 APC BMPR1A BRCA1 CDK4 CDKN2A TP53
20 renal/urinary system MP:0005367 9.5 APC BRCA1 CDK4 DICER1 FH FLCN
21 reproductive system MP:0005389 9.44 APC ATM BAP1 BMPR1A BRCA1 BRCA2

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:

41
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. 71
25394175 2015
2
NBN Gene Analysis and it's Impact on Breast Cancer. 38
31278556 2019
3
Assessment of structurally and functionally high-risk nsSNPs impacts on human bone morphogenetic protein receptor type IA (BMPR1A) by computational approach. 38
30884445 2019
4
Prenatal diagnosis in a hereditary Peutz-Jeghers syndrome family with high cancer risk. 38
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. 38
29197744 2018
6
Familial Colorectal Cancer Type X in Central Iran: A New Clinicopathologic Description. 38
28989591 2017
7
Immunohistochemical analysis of mismatch repair proteins in Iranian colorectal cancer patients at risk for lynch syndrome. 38
25821566 2015
8
p53 and disease: when the guardian angel fails. 38
16557268 2006
9
Challenging pedigrees seen in a hereditary cancer consultation center. 38
15350297 2004

Variations for Inherited Cancer-Predisposing Syndrome

ClinVar genetic disease variations for Inherited Cancer-Predisposing Syndrome:

6 (show top 50) (show all 44774)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ATM NM_000051.3(ATM): c.6650_6657del (p.Phe2217fs) deletion Pathogenic rs864622326 11:108196114-108196121 11:108325387-108325394
2 ATM NM_000051.3(ATM): c.8873_8874del (p.Leu2957_Phe2958insTer) deletion Pathogenic rs864622669 11:108235831-108235832 11:108365104-108365105
3 BRCA2 NM_000059.3(BRCA2): c.144del (p.Glu49fs) deletion Pathogenic rs864622434 13:32893290-32893290 13:32319153-32319153
4 BRCA2 NM_000059.3(BRCA2): c.3201del (p.Val1068fs) deletion Pathogenic rs864622672 13:32911693-32911693 13:32337556-32337556
5 BRCA2 NM_000059.3(BRCA2): c.5016C> G (p.Tyr1672Ter) single nucleotide variant Pathogenic rs864622073 13:32913508-32913508 13:32339371-32339371
6 BRCA2 NM_000059.3(BRCA2): c.6998dup (p.Pro2334fs) duplication Pathogenic rs754611265 13:32921024-32921024 13:32346887-32346887
7 PALB2 NM_024675.3(PALB2): c.3202-?_*(1_?)del deletion Pathogenic 16:23614779-23619333 16:23603458-23608012
8 PALB2 NM_024675.3(PALB2): c.93dup (p.Leu32fs) duplication Pathogenic rs864622498 16:23649406-23649406 16:23638085-23638085
9 FLCN NM_144997.7(FLCN): c.1252del (p.Leu418fs) deletion Pathogenic rs864622651 17:17119742-17119742 17:17216428-17216428
10 NF1 NM_000267.3(NF1): c.3975-2A> G single nucleotide variant Pathogenic rs864622431 17:29576000-29576000 17:31248982-31248982
11 VHL NM_000551.3(VHL): c.555C> G (p.Tyr185Ter) single nucleotide variant Pathogenic rs864622109 3:10191562-10191562 3:10149878-10149878
12 BAP1 NM_004656.4(BAP1): c.1717del (p.Leu573fs) deletion Pathogenic rs869025212 3:52437444-52437444 3:52403428-52403428
13 BRCA2 NM_000059.3(BRCA2): c.4963del (p.Tyr1655fs) deletion Pathogenic rs886040557 13:32913455-32913455 13:32339318-32339318
14 VHL NM_000551.3(VHL): c.320G> A (p.Arg107His) single nucleotide variant Pathogenic rs193922609 3:10183851-10183851 3:10142167-10142167
15 VHL NM_000551.3(VHL): c.332G> A (p.Ser111Asn) single nucleotide variant Pathogenic rs869025631 3:10183863-10183863 3:10142179-10142179
16 VHL NM_000551.3(VHL): c.333C> G (p.Ser111Arg) single nucleotide variant Pathogenic rs765978945 3:10183864-10183864 3:10142180-10142180
17 VHL NM_000551.3(VHL): c.464-2A> G single nucleotide variant Pathogenic rs5030816 3:10191469-10191469 3:10149785-10149785
18 BRCA2 NM_000059.3(BRCA2): c.161del (p.Asn54fs) deletion Pathogenic rs878853297 13:32893307-32893307 13:32319170-32319170
19 MSH6 NM_000179.2(MSH6): c.1352del (p.Phe451fs) deletion Pathogenic rs869312769 2:48026474-48026474 2:47799335-47799335
20 MSH6 NM_000179.2(MSH6): c.2846_2847AG[1] (p.Ser950fs) short repeat Pathogenic rs869312770 2:48027970-48027971 2:47800831-47800832
21 BAP1 NM_004656.4(BAP1): c.1063C> T (p.Gln355Ter) single nucleotide variant Pathogenic rs869312757 3:52439179-52439179 3:52405163-52405163
22 MUTYH NM_001128425.1(MUTYH): c.1101_1119del (p.Arg368fs) deletion Pathogenic rs869312771 1:45797400-45797418 1:45331728-45331746
23 BMPR1A NM_004329.2(BMPR1A): c.-152-?_1473+?del deletion Pathogenic
24 BMPR1A NM_004329.2(BMPR1A): c.3G> C (p.Met1Ile) single nucleotide variant Pathogenic rs869312758 10:88635778-88635778 10:86876021-86876021
25 BMPR1A NM_004329.2(BMPR1A): c.286_289dup (p.Ala97fs) duplication Pathogenic rs869312783 10:88651939-88651942 10:86892182-86892185
26 PALB2 NM_024675.3(PALB2): c.3186del (p.Ala1063fs) deletion Pathogenic rs869312774 16:23625340-23625340 16:23614019-23614019
27 PALB2 NM_024675.3(PALB2): c.1163del (p.Pro388fs) deletion Pathogenic rs869312772 16:23646704-23646704 16:23635383-23635383
28 CDH1 NM_004360.5(CDH1): c.1064del (p.Gly354_Leu355insTer) deletion Pathogenic rs1555515731 16:68846093-68846093 16:68812190-68812190
29 CDH1 NM_004360.5(CDH1): c.1505del (p.Gly502fs) deletion Pathogenic rs869312765 16:68849602-68849602 16:68815699-68815699
30 TP53 NM_000546.5(TP53): c.202G> T (p.Glu68Ter) single nucleotide variant Pathogenic rs869312782 17:7579485-7579485 17:7676167-7676167
31 SMAD4 NM_005359.5(SMAD4): c.(?_-538)_1139+?del deletion Pathogenic 18:48556583-48591976 18:51030213-51065606
32 SMAD4 NM_005359.5(SMAD4): c.886_895delCCCCATCCCG (p.Pro296Aspfs) deletion Pathogenic rs869312781 18:48584808-48584817 18:51058438-51058447
33 STK11 NM_000455.4(STK11): c.(?_-1)_920+?del deletion Pathogenic 19:1206912-1222005 19:1206913-1222006
34 BRCA2 NM_000059.3(BRCA2): c.1329del (p.Asn444fs) deletion Pathogenic rs869320781 13:32906944-32906944 13:32332807-32332807
35 BRCA2 NM_000059.3(BRCA2): c.3323del (p.Lys1108fs) deletion Pathogenic rs869320782 13:32911815-32911815 13:32337678-32337678
36 BRCA2 NM_000059.3(BRCA2): c.4615_4616del (p.Leu1539fs) deletion Pathogenic rs869320783 13:32913107-32913108 13:32338970-32338971
37 BRCA2 NM_000059.3(BRCA2): c.7575del (p.Ala2526fs) deletion Pathogenic rs869320797 13:32930704-32930704 13:32356567-32356567
38 BRCA2 NM_000059.3(BRCA2): c.8930del (p.Tyr2977fs) deletion Pathogenic rs869320799 13:32953629-32953629 13:32379492-32379492
39 BRCA1 NM_007294.3(BRCA1): c.886del (p.Arg296fs) deletion Pathogenic rs869320786 17:41246662-41246662 17:43094645-43094645
40 DICER1 NM_177438.2(DICER1): c.4407_4410del (p.Ser1470fs) deletion Pathogenic rs875989784 14:95562847-95562850 14:95096510-95096513
41 MSH2 NM_000251.2(MSH2): c.1384C> T (p.Gln462Ter) single nucleotide variant Pathogenic rs876657701 2:47672794-47672794 2:47445655-47445655
42 NF1 NM_000267.3(NF1): c.5242C> T (p.Arg1748Ter) single nucleotide variant Pathogenic rs876657714 17:29654553-29654553 17:31327535-31327535
43 MSH6 NM_000179.2(MSH6): c.599C> G (p.Ser200Ter) single nucleotide variant Pathogenic rs63751077 2:48023174-48023174 2:47796035-47796035
44 MSH6 NM_000179.2(MSH6): c.1969del (p.Gln657fs) deletion Pathogenic rs876661205 2:48027091-48027091 2:47799952-47799952
45 MSH6 NM_000179.2(MSH6): c.3491dup (p.Cys1165fs) duplication Pathogenic rs876661073 2:48032101-48032101 2:47804962-47804962
46 PMS2 NM_000535.7(PMS2): c.2445+1G> T single nucleotide variant Pathogenic rs876661113 7:6017218-6017218 7:5977587-5977587
47 PMS2 NM_000535.7(PMS2): c.631C> T (p.Arg211Ter) single nucleotide variant Pathogenic rs760228510 7:6038813-6038813 7:5999182-5999182
48 PTEN NM_000314.7(PTEN): c.17_18del (p.Lys6fs) deletion Pathogenic rs121913290 10:89624243-89624244 10:87864486-87864487
49 BRCA2 NM_000059.3(BRCA2): c.3055_3056CT[2] (p.Leu1019_Ser1020insTer) short repeat Pathogenic rs876661270 13:32911551-32911552 13:32337414-32337415
50 BRCA2 NM_000059.3(BRCA2): c.5134G> T (p.Gly1712Ter) single nucleotide variant Pathogenic rs876661056 13:32913626-32913626 13:32339489-32339489

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 all 50)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.83 TP53 FANCC DICER1 CHEK2 CDKN2A BRIP1
2
Show member pathways
13.46 TP53 CHEK2 CDKN2A CDK4 BRIP1 BRCA2
3
Show member pathways
13.15 TP53 PALB2 FANCC CHEK2 BRIP1 BRCA2
4
Show member pathways
13.01 TP53 FANCC CHEK2 CDKN2A BRIP1 BRCA1
5
Show member pathways
12.97 TP53 CHEK2 BRIP1 BRCA2 BRCA1 BARD1
6
Show member pathways
12.9 TP53 CDKN2A CDK4 CDH1 BRCA2 APC
7 12.88 TP53 FH CDKN2A CDK4 CDH1 BRCA2
8
Show member pathways
12.87 TP53 BRCA1 BARD1 BAP1 APC ABRAXAS1
9
Show member pathways
12.8 TP53 CDKN2A CDK4 CDH1 BRCA2 BRCA1
10
Show member pathways
12.76 TP53 FANCC CHEK2 CDK4 BRCA2 BRCA1
11
Show member pathways
12.74 TP53 CDKN2A CDK4 CDH1 BRCA2 BRCA1
12
Show member pathways
12.67 TP53 CHEK2 BRIP1 BRCA1 BLM BARD1
13 12.57 TP53 DICER1 CDKN2A BRCA1 ATM APC
14
Show member pathways
12.54 CDK4 BRCA2 BRCA1 BLM ATM
15 12.45 TP53 CHEK2 CDKN2A CDK4 BRIP1 BRCA2
16
Show member pathways
12.43 TP53 CHEK2 BMPR1A ATM
17
Show member pathways
12.43 TP53 CHEK2 BRCA1 BARD1 BAP1 ATM
18
Show member pathways
12.42 TP53 CHEK2 CDKN2A CDK4 BRCA1 ATM
19 12.41 TP53 CDK4 CDH1 APC
20 12.41 TP53 CHEK2 CDKN2A CDK4 CDH1 ATM
21 12.4 TP53 CHEK2 CDKN2A CDK4 ATM APC
22
Show member pathways
12.35 TP53 CDKN2A CDK4 ATM
23
Show member pathways
12.32 PALB2 BRIP1 BRCA2 BRCA1 BLM BARD1
24
Show member pathways
12.29 TP53 CHEK2 CDK4 BRCA1 ATM
25
Show member pathways
12.24 CHEK2 CDKN2A CDK4 BRCA1
26 12.22 TP53 CHEK2 CDKN2A CDK4 ATM
27 12.03 TP53 CDKN2A ATM APC
28 12.01 TP53 CDKN2A CDK4 APC
29
Show member pathways
11.9 TP53 CHEK2 BRCA1 ATM
30 11.9 PALB2 FANCC BRIP1 BRCA2 BRCA1 BLM
31 11.83 TP53 CDK4 BARD1
32
Show member pathways
11.81 TP53 CHEK2 CDKN2A ATM
33 11.8 TP53 CDKN2A BRCA1 ATM
34 11.8 TP53 CDKN2A CDK4 CDH1
35 11.75 TP53 CHEK2 BRCA1 ATM
36 11.64 TP53 CHEK2 ATM
37 11.58 TP53 CHEK2 BRIP1 BRCA2 BRCA1 BARD1
38
Show member pathways
11.52 TP53 CHEK2 ATM
39 11.51 TP53 CHEK2 CDK4 CDH1 BRCA2 BRCA1
40
Show member pathways
11.48 TP53 FANCC CHEK2 BRCA2 BRCA1 BLM
41 11.46 TP53 CHEK2 CDK4 BRCA1 BLM BARD1
42 11.44 BRCA1 BARD1 ABRAXAS1
43 11.43 CHEK2 CDK4 BRCA2
44 11.37 TP53 CDK4 BRCA1 ATM
45 11.35 TP53 CDKN2A CDK4
46 11.34 TP53 CHEK2 CDK4 BRCA1 BLM BARD1
47 11.26 TP53 FANCC BRCA1 BARD1 ATM
48
Show member pathways
11.18 TP53 CDKN2A ATM
49 11.11 TP53 BRCA1 ATM
50 10.39 TP53 CHEK2

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 PML body GO:0016605 9.61 TP53 CHEK2 BLM
2 chromosome, telomeric region GO:0000781 9.58 CHEK2 BLM ATM
3 lateral element GO:0000800 9.5 BRCA2 BRCA1 BLM
4 nucleoplasm GO:0005654 9.5 TP53 PALB2 FANCC CHEK2 CDKN2A CDK4
5 BRCA1-BARD1 complex GO:0031436 9.37 BRCA1 BARD1
6 BRCA1-A complex GO:0070531 9.13 BRCA1 BARD1 ABRAXAS1
7 cytoplasm GO:0005737 10.19 TP53 FLCN FH FANCC DICER1 CHEK2
8 nucleus GO:0005634 10.09 TP53 PALB2 FLCN FANCC DICER1 CHEK2

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

(show all 35)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of apoptotic process GO:0043065 9.98 TP53 FLCN CDKN2A CDK4 BARD1 ATM
2 protein deubiquitination GO:0016579 9.95 TP53 BRCA1 BARD1 BAP1 APC ABRAXAS1
3 DNA replication GO:0006260 9.93 BRIP1 BRCA1 BLM BARD1 ATM
4 cell cycle arrest GO:0007050 9.91 TP53 CDKN2A BARD1 ATM APC
5 DNA recombination GO:0006310 9.88 PALB2 BRCA2 BRCA1 BLM
6 double-strand break repair via homologous recombination GO:0000724 9.86 PALB2 BRCA2 BRCA1 BLM
7 response to toxic substance GO:0009636 9.84 CDK4 CDH1 BRIP1
8 regulation of signal transduction by p53 class mediator GO:1901796 9.83 TP53 CHEK2 ATM
9 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.83 CHEK2 BRCA2 BRCA1 ATM
10 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.8 TP53 CHEK2 ATM
11 nucleotide-excision repair GO:0006289 9.8 TP53 FANCC BRIP1 BRCA2
12 response to ionizing radiation GO:0010212 9.79 BRCA1 ATM ABRAXAS1
13 DNA damage checkpoint GO:0000077 9.77 CHEK2 BRIP1 ATM
14 response to gamma radiation GO:0010332 9.77 TP53 CHEK2 BRCA2
15 double-strand break repair GO:0006302 9.77 CHEK2 BRIP1 BRCA2 BRCA1 ABRAXAS1
16 cellular response to gamma radiation GO:0071480 9.76 TP53 CHEK2 ATM
17 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.74 TP53 CHEK2 BRCA2
18 double-strand break repair via nonhomologous end joining GO:0006303 9.71 BRCA1 BARD1 ATM ABRAXAS1
19 inner cell mass cell proliferation GO:0001833 9.66 PALB2 BRCA2
20 signal transduction involved in G2 DNA damage checkpoint GO:0072425 9.66 BRCA1 ABRAXAS1
21 replication fork protection GO:0048478 9.65 BRCA2 BLM
22 DNA strand renaturation GO:0000733 9.65 TP53 BLM
23 DNA repair GO:0006281 9.65 PALB2 FANCC CHEK2 BRIP1 BRCA2 BRCA1
24 protein K6-linked ubiquitination GO:0085020 9.64 BRCA1 BARD1
25 DNA damage induced protein phosphorylation GO:0006975 9.63 CHEK2 ATM
26 cellular response to indole-3-methanol GO:0071681 9.62 CDH1 BRCA1
27 DNA double-strand break processing GO:0000729 9.62 BRCA1 BLM BARD1 ATM
28 chordate embryonic development GO:0043009 9.61 BRCA2 BRCA1
29 replicative senescence GO:0090399 9.56 TP53 CHEK2 CDKN2A ATM
30 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.46 TP53 CHEK2 BRCA2 BRCA1
31 cellular response to DNA damage stimulus GO:0006974 9.4 TP53 PALB2 FANCC CHEK2 BRIP1 BRCA2
32 meiotic DNA double-strand break processing involved in reciprocal meiotic recombination GO:0010705 9.3 BRIP1
33 cell cycle GO:0007049 10.09 TP53 CHEK2 CDKN2A CDK4 BRCA2 BRCA1
34 positive regulation of transcription, DNA-templated GO:0045893 10.06 TP53 CHEK2 CDKN2A CDH1 BRCA2 BRCA1
35 negative regulation of cell proliferation GO:0008285 10.04 TP53 CDKN2A BRIP1 BAP1 APC

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 9.91 TP53 PALB2 DICER1 CDKN2A BRIP1 BRCA2
2 ATP binding GO:0005524 9.76 TP53 DICER1 CHEK2 CDK4 BRIP1 BMPR1A
3 ubiquitin protein ligase binding GO:0031625 9.73 TP53 CHEK2 BRCA1 APC
4 protein binding GO:0005515 9.62 TP53 PALB2 FLCN FH FANCC DICER1
5 nucleotide binding GO:0000166 9.43 DICER1 CHEK2 CDK4 BRIP1 BLM ATM
6 ATP-dependent helicase activity GO:0008026 9.4 BRIP1 BLM
7 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides GO:0016818 9.37 BRIP1 BLM
8 gamma-catenin binding GO:0045295 9.32 CDH1 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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