MCID: HRD200
MIFTS: 58

Hereditary Breast Ovarian Cancer Syndrome

Categories: Reproductive diseases, Rare diseases, Genetic diseases, Cancer diseases, Endocrine diseases

Aliases & Classifications for Hereditary Breast Ovarian Cancer Syndrome

MalaCards integrated aliases for Hereditary Breast Ovarian Cancer Syndrome:

Name: Hereditary Breast Ovarian Cancer Syndrome 12
Hereditary Breast and Ovarian Cancer Syndrome 59 29 6 44 73
Brca1- and Brca2-Associated Hereditary Breast and Ovarian Cancer 12 24
Hereditary Breast Ovarian Cancer 15
Hboc 24

Characteristics:

Orphanet epidemiological data:

59
hereditary breast and ovarian cancer syndrome
Inheritance: Autosomal dominant; Age of onset: All ages;

Classifications:



External Ids:

Disease Ontology 12 DOID:5683
MeSH 44 D061325
NCIt 50 C8493
Orphanet 59 ORPHA145
ICD10 via Orphanet 34 C50 C56
UMLS via Orphanet 74 C0677776
UMLS 73 C0677776

Summaries for Hereditary Breast Ovarian Cancer Syndrome

Disease Ontology : 12 An autosomal dominant disease characterized by the higher than normal tendency associated with BRCA1 and BRCA2 to develop breast and ovarian cancers in genetically related families.

MalaCards based summary : Hereditary Breast Ovarian Cancer Syndrome, also known as hereditary breast and ovarian cancer syndrome, is related to endometrial cancer and ovarian cancer. An important gene associated with Hereditary Breast Ovarian Cancer Syndrome is BRCA1 (BRCA1, DNA Repair Associated), and among its related pathways/superpathways are Gene Expression and Cell Cycle, Mitotic. The drugs Carboplatin and Paclitaxel have been mentioned in the context of this disorder. Affiliated tissues include breast, testes and ovary, and related phenotypes are abnormality of the fallopian tube and primary peritoneal carcinoma

Wikipedia : 76 Hereditary breast–ovarian cancer syndromes (HBOC) are cancer syndromes that produce higher than normal... more...

GeneReviews: NBK1247

Related Diseases for Hereditary Breast Ovarian Cancer Syndrome

Diseases in the Hereditary Breast Ovarian Cancer Syndrome family:

Breast-Ovarian Cancer, Familial 1 Breast-Ovarian Cancer, Familial 2
Breast-Ovarian Cancer, Familial 3 Breast-Ovarian Cancer, Familial 4

Diseases related to Hereditary Breast Ovarian Cancer Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 80)
# Related Disease Score Top Affiliating Genes
1 endometrial cancer 28.3 BRCA1 BRCA2 MLH1 MSH2 PTEN TP53
2 ovarian cancer 26.0 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
3 brca2 hereditary breast and ovarian cancer syndrome 11.7
4 brca1 hereditary breast and ovarian cancer syndrome 11.1
5 hereditary site-specific ovarian cancer syndrome 11.0 BRCA1 BRCA2
6 tracheoesophageal fistula with or without esophageal atresia 11.0 BRCA2 PALB2
7 breast reconstruction 10.9 BRCA1 BRCA2
8 tuberculous salpingitis 10.9 BRCA1 BRCA2
9 nosophobia 10.9 BRCA1 BRCA2
10 cancerophobia 10.9 BRCA1 BRCA2
11 breast-ovarian cancer, familial 1 10.8 BRCA1 BRCA2 NBN
12 uterine corpus serous adenocarcinoma 10.7 BRCA1 BRCA2 TP53
13 fallopian tube adenocarcinoma 10.7 BRCA1 BRCA2 TP53
14 glycogen-rich clear cell breast carcinoma 10.7 BRCA1 BRCA2 TP53
15 primary peritoneal carcinoma 10.7 BRCA1 BRCA2 TP53
16 mutagen sensitivity 10.7 BRCA1 BRCA2 TP53
17 pre-malignant neoplasm 10.7 BRCA1 BRCA2 TP53
18 fallopian tube carcinoma 10.7 BRCA1 BRCA2 TP53
19 ovarian cancer 1 10.7 BRCA1 BRCA2 TP53
20 malignant ovarian surface epithelial-stromal neoplasm 10.7 BRCA1 BRCA2 TP53
21 ovary epithelial cancer 10.7 BRCA1 BRCA2 TP53
22 li-fraumeni syndrome 2 10.7 CHEK2 TP53
23 breast carcinoma in situ 10.7 BRCA1 BRCA2 TP53
24 ductal carcinoma in situ 10.6 BRCA1 BRCA2 TP53
25 bap1 tumor predisposition syndrome 10.6 BRCA2 MRE11 PALB2
26 tumor predisposition syndrome 10.6 BRCA2 MRE11 PALB2
27 myxosarcoma 10.6 ATM BRCA1 TP53
28 tetraploidy 10.6 BRCA2 TP53
29 peutz-jeghers syndrome 10.5 BRCA2 PTEN TP53
30 congenital hypoplastic anemia 10.5 BRCA2 BRIP1 RAD51
31 nijmegen breakage syndrome-like disorder 10.4 MRE11 RAD50
32 ataxia-telangiectasia-like disorder 1 10.4 MRE11 NBN
33 renal cell carcinoma, papillary, 1 10.3 ATM PTEN TP53
34 lig4 syndrome 10.3 ATM NBN XRCC2
35 female reproductive endometrioid cancer 10.3 PTEN TP53
36 differentiated thyroid carcinoma 10.2 CHEK2 TP53 XRCC2
37 cowden disease 10.2 BRCA1 BRCA2 PTEN XRCC2
38 richter's syndrome 10.2 ATM MLH1 TP53
39 female breast cancer 10.2 ATM BRCA1 BRCA2 PALB2 TP53
40 tracheoesophageal fistula 10.2 BRCA2 BRIP1 PALB2 PTEN RAD51C
41 endometrial adenocarcinoma 10.1 MLH1 PTEN TP53
42 actinic cheilitis 10.1 MSH2 TP53
43 alpha-thalassemia/mental retardation syndrome, x-linked 10.1 MRE11 NBN RAD50 TP53
44 synchronous bilateral breast carcinoma 10.1 ATM BRCA1 BRCA2 PTEN TP53
45 bilateral breast cancer 10.0 ATM BRCA1 BRCA2 CHEK2 RAD51
46 appendix carcinoid tumor 10.0 MLH1 MSH2
47 brain cancer 10.0 BRCA2 PTEN RAD51 TP53
48 adenosquamous colon carcinoma 10.0 MLH1 MSH2
49 papillary serous adenocarcinoma 9.9
50 adenocarcinoma 9.9

Graphical network of the top 20 diseases related to Hereditary Breast Ovarian Cancer Syndrome:



Diseases related to Hereditary Breast Ovarian Cancer Syndrome

Symptoms & Phenotypes for Hereditary Breast Ovarian Cancer Syndrome

Human phenotypes related to Hereditary Breast Ovarian Cancer Syndrome:

59 32 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the fallopian tube 59 32 hallmark (90%) Very frequent (99-80%) HP:0011027
2 primary peritoneal carcinoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0030406
3 ovarian neoplasm 59 32 hallmark (90%) Very frequent (99-80%) HP:0100615
4 breast carcinoma 59 32 frequent (33%) Frequent (79-30%) HP:0003002
5 melanoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002861
6 neoplasm of the pancreas 59 32 occasional (7.5%) Occasional (29-5%) HP:0002894
7 prostate cancer 59 32 occasional (7.5%) Occasional (29-5%) HP:0012125

GenomeRNAi Phenotypes related to Hereditary Breast Ovarian Cancer Syndrome according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00151-A-1 10.83 BRCA1 BARD1 RAD51 XRCC2
2 Decreased homologous recombination repair frequency GR00151-A-2 10.83 BRCA1 RAD51 XRCC2
3 Decreased homologous recombination repair frequency GR00236-A-1 10.83 BARD1 BRCA1 RAD51 BRCA2 PALB2
4 Decreased homologous recombination repair frequency GR00236-A-2 10.83 BARD1 BRCA2 BRCA1 ATM RAD51 PALB2
5 Decreased homologous recombination repair frequency GR00236-A-3 10.83 BARD1 BRCA2 BRCA1 RAD51 PALB2
6 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10.42 BRCA2 BRCA1 ATM BARD1 PTEN MLH1
7 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.42 BRCA2 BRCA1 ATM BARD1 MLH1 PTEN
8 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 10.21 BRCA2 BRCA1 ATM BARD1 MRE11 RAD50
9 Decreased viability with cisplatin GR00101-A-4 9.72 BRCA2 BRCA1 BARD1 BRIP1 RAD51
10 Synthetic lethal with cisplatin GR00101-A-1 9.55 BRCA2 BRCA1 BARD1 BRIP1 RAD51
11 Decreased viability after ionizing radiation GR00232-A-2 9.54 BRCA1 ATM BRCA2
12 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 9.1 BARD1 BRCA1 MRE11 MSH2 BRCA2 RAD51D

MGI Mouse Phenotypes related to Hereditary Breast Ovarian Cancer Syndrome:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.45 BRCA1 CHEK2 ATM BRCA2 BARD1 BRIP1
2 embryo MP:0005380 10.34 BRCA1 ATM BRCA2 BARD1 RAD51 XRCC2
3 growth/size/body region MP:0005378 10.27 BARD1 BRCA1 ATM BRCA2 TP53 RAD50
4 endocrine/exocrine gland MP:0005379 10.22 BRIP1 BRCA1 CHEK2 ATM BRCA2 PTEN
5 homeostasis/metabolism MP:0005376 10.22 BRIP1 CHEK2 BRCA1 ATM BRCA2 TP53
6 mortality/aging MP:0010768 10.19 BRCA1 CHEK2 ATM BRCA2 BARD1 PTEN
7 hematopoietic system MP:0005397 10.13 CHEK2 BRCA1 ATM BRCA2 RAD50 TP53
8 integument MP:0010771 10.07 BRCA1 ATM BRCA2 RAD50 MSH2 PTEN
9 neoplasm MP:0002006 10.06 BRCA1 CHEK2 ATM BRCA2 BARD1 BRIP1
10 digestive/alimentary MP:0005381 10.05 BRCA1 BRCA2 RAD50 TP53 MSH2 PTEN
11 limbs/digits/tail MP:0005371 9.92 BRCA1 BRCA2 TP53 RAD50 PTEN XRCC2
12 nervous system MP:0003631 9.83 BRIP1 BRCA1 CHEK2 ATM BRCA2 BARD1
13 reproductive system MP:0005389 9.36 BRIP1 BRCA1 ATM BRCA2 PTEN RAD51C

Drugs & Therapeutics for Hereditary Breast Ovarian Cancer Syndrome

Drugs for Hereditary Breast Ovarian Cancer Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 2,Phase 1 41575-94-4 10339178 498142 38904
2
Paclitaxel Approved, Vet_approved Phase 2,Phase 1 33069-62-4 36314
3
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
4
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
5
Zoledronic acid Approved Phase 2 118072-93-8 68740
6
Doxil Approved June 1999 Phase 2 31703
7 Albumin-Bound Paclitaxel Phase 2,Phase 1
8 Antimitotic Agents Phase 2,Phase 1
9 Antineoplastic Agents, Phytogenic Phase 2,Phase 1
10 Alkylating Agents Phase 2
11 Topoisomerase Inhibitors Phase 2
12 Anti-Bacterial Agents Phase 2
13 Antibiotics, Antitubercular Phase 2
14 Immunosuppressive Agents Phase 2
15 Antirheumatic Agents Phase 2
16 Antineoplastic Agents, Alkylating Phase 2
17 Diphosphonates Phase 2
18 Bone Density Conservation Agents Phase 2
19
Veliparib Investigational Phase 1 912444-00-9 11960529
20 Poly(ADP-ribose) Polymerase Inhibitors Phase 1
21
Menthol Approved Not Applicable 2216-51-5 16666
22
Ethanol Approved Not Applicable 64-17-5 702

Interventional clinical trials:

(show all 40)
# Name Status NCT ID Phase Drugs
1 Protexa® Versus TiLoopBra® in Immediate Breast Reconstruction- A Pilot Study Completed NCT02562170 Phase 4
2 Trial of Inquiry Based Stress Reduction (IBSR) Program for BRCA1/2 Mutation Carriers Recruiting NCT03162276 Phase 3
3 Trial of Inquiry Based Stress Reduction (IBSR) Program for BRCA1/2 Mutation Carriers Completed NCT01367639 Phase 2
4 Search Allelic Imbalance of Expression of BRCA Genes in Hereditary Risk of Breast and/or Ovarian Cancer Completed NCT01333748 Phase 2
5 The Women Choosing Surgical Prevention (WISP) Trial Recruiting NCT02760849 Phase 2
6 Neoadjuvant Carboplatin in Triple Negative Breast Cancer Recruiting NCT02978495 Phase 2 Doxorubicin;Carboplatin;Paclitaxel;Cyclophosphamide
7 A Phase II Single Arm Pilot Study of the Chk1/2 Inhibitor (LY2606368) in BRCA1/2 Mutation Associated Breast or Ovarian Cancer, Triple Negative Breast Cancer, High Grade Serous Ovarian Cancer, and Metastatic Castrate-Resistant Prostate Cancer Recruiting NCT02203513 Phase 2 LY2606368
8 Zoledronate or Observation in Maintaining Bone Mineral Density in Patients Who Are Undergoing Surgery to Remove Both Ovaries Active, not recruiting NCT00305695 Phase 2 Zoledronic Acid
9 Veliparib, Carboplatin, and Paclitaxel in Treating Patients With Advanced Solid Cancer Completed NCT00535119 Phase 1 Carboplatin;Paclitaxel;Veliparib
10 Veliparib in Treating Patients With Malignant Solid Tumors That Do Not Respond to Previous Therapy Completed NCT00892736 Phase 1 Veliparib
11 Impact of a Psychoeducational Intervention on Expectations and Coping in Young Women Exposed to a High HBOC Risk Unknown status NCT02705924 Not Applicable
12 Hypodontia and Ovarian Cancer Unknown status NCT01470235
13 Statewide Communication to Reach Diverse Low Income Women Completed NCT02956681 Not Applicable
14 Cancer Genetics Hereditary Cancer Panel Testing Completed NCT02324062
15 Telemedicine vs. Face-to-Face Cancer Genetic Counseling Completed NCT00609505 Not Applicable
16 Identification and Referral of Women at Risk for Hereditary Breast/Ovarian Cancer Completed NCT02786147
17 Attitudes About Childbearing And Fertility With Inherited Breast And Ovarian Cancer Syndromes (HBOC) Completed NCT00829959
18 Risk Education and Assessment for Cancer Heredity Completed NCT01346761 Not Applicable
19 Enhancing At-risk Latina Women's Use of Genetic Counseling for Hereditary Breast and Ovarian Cancer Recruiting NCT03075540 Not Applicable
20 Is it Feasible?: Self-Affirmation for Hereditary Breast and Ovarian Cancer Genetic Counseling Recruiting NCT03225170 Not Applicable
21 Testing an Intelligent Tutoring System to Enhance Genetic Risk Assessment Recruiting NCT03511690 Not Applicable
22 Triple Negative Breast Cancer and Germline Hereditary Breast and Ovarian Cancer Mutation Carrier Registry Recruiting NCT02302742
23 Inherited Susceptible Genes Among Epithelial Ovarian Cancer Recruiting NCT03015376
24 Efficacy of Lifestyle Intervention in BRCA1/2 Mutation Carriers Recruiting NCT02516540 Not Applicable
25 Risk-Reducing Surgeries for Hereditary Ovarian Cancer Recruiting NCT03294343 Not Applicable
26 Investigation of Tumour Spectrum of Germline Mutations in Breast and Ovarian Cancer Genes. Recruiting NCT03246841 Not Applicable
27 Decision Support for BRCA Testing in Ethnically Diverse Women Recruiting NCT03470402 Not Applicable
28 Cascade Genetic Testing for Hereditary Breast/Ovarian Cancer and Lynch Syndrome in Switzerland Recruiting NCT03124212
29 Cluster Randomized Trial Comparing Interventions to Enhance Genetic Counseling Among Breast Cancer Patients Recruiting NCT01789684 Not Applicable
30 Familial Cancer Registry and DNA Bank Recruiting NCT02083224
31 Genetic Risk: Whether, When, and How to Tell Adolescents Recruiting NCT03421327
32 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
33 Feasibility of Lifestyle Intervention in BRCA1/2 Mutation Carriers Active, not recruiting NCT02087592 Not Applicable
34 Radical Fimbriectomy for Young BRCA Mutation Carriers Active, not recruiting NCT01608074 Not Applicable
35 Genetic Counseling for Breast Cancer Survivors (GC for BC) Active, not recruiting NCT02451735 Not Applicable
36 Women at Risk of Breast Cancer and OLFM4 Not yet recruiting NCT02653105 Not Applicable
37 Cancer Health Assessments Reaching Many Not yet recruiting NCT03426878 Not Applicable
38 Cost of Cancer Risk Management in Women at Elevated Genetic Risk for Ovarian Cancer Who Participated on GOG-0199 Not yet recruiting NCT01445275
39 Blood Markers of Early Pancreas Cancer Not yet recruiting NCT03568630
40 Family Communication of Hereditary Breast and Ovarian Cancer Risk Among African Americans Terminated NCT01374685

Search NIH Clinical Center for Hereditary Breast Ovarian Cancer Syndrome

Cochrane evidence based reviews: hereditary breast and ovarian cancer syndrome

Genetic Tests for Hereditary Breast Ovarian Cancer Syndrome

Genetic tests related to Hereditary Breast Ovarian Cancer Syndrome:

# Genetic test Affiliating Genes
1 Hereditary Breast and Ovarian Cancer Syndrome 29 BRCA1 BRCA2

Anatomical Context for Hereditary Breast Ovarian Cancer Syndrome

MalaCards organs/tissues related to Hereditary Breast Ovarian Cancer Syndrome:

41
Breast, Testes, Ovary, Bone, Prostate, Pancreas

Publications for Hereditary Breast Ovarian Cancer Syndrome

Articles related to Hereditary Breast Ovarian Cancer Syndrome:

(show all 20)
# Title Authors Year
1
Practice Bulletin No 182: Hereditary Breast and Ovarian Cancer Syndrome. ( 28832484 )
2017
2
Characterization of a new BRCA1 rearrangement in an Italian woman with hereditary breast and ovarian cancer syndrome. ( 28488140 )
2017
3
Investigating barriers to genetic counseling and germline mutation testing in women with suspected hereditary breast and ovarian cancer syndrome and Lynch syndrome. ( 29273311 )
2017
4
MA1llerian intra-abdominal carcinomatosis in hereditary breast ovarian cancer syndrome: implications for risk-reducing surgery. ( 26875157 )
2016
5
Accelerated geroncogenesis in hereditary breast-ovarian cancer syndrome. ( 26943589 )
2016
6
Endometrial cancers in mutation carriers from hereditary breast ovarian cancer syndrome kindreds: report from the creighton university hereditary cancer registry with review of the implications. ( 25756400 )
2015
7
Targeted therapy for hereditary cancer syndromes: hereditary breast and ovarian cancer syndrome, Lynch syndrome, familial adenomatous polyposis, and Li-Fraumeni syndrome. ( 25549704 )
2014
8
Hereditary breast/ovarian cancer syndrome: a primer for obstetricians/gynecologists. ( 24021253 )
2013
9
Hereditary breast ovarian cancer syndromes in the Maritimes. ( 20181317 )
2010
10
Hereditary breast-ovarian cancer syndrome in Russia. ( 22649661 )
2010
11
Identification and management of women at high risk for hereditary breast/ovarian cancer syndrome. ( 19292801 )
2009
12
Coordinated prophylactic surgical management for women with hereditary breast-ovarian cancer syndrome. ( 18410690 )
2008
13
Individualized preventive and therapeutic management of hereditary breast ovarian cancer syndrome. ( 17898808 )
2007
14
High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic. ( 17561994 )
2007
15
Re: "Intra-abdominal carcinomatosis after prophylactic oophorectomy in women of hereditary breast ovarian cancer syndrome kindreds associated with BRCA1 and BRCA2 mutations". ( 16188301 )
2005
16
Intra-abdominal carcinomatosis after prophylactic oophorectomy in women of hereditary breast ovarian cancer syndrome kindreds associated with BRCA1 and BRCA2 mutations. ( 15863145 )
2005
17
Prophylactic surgery in hereditary breast/ovarian cancer syndrome. ( 12886864 )
2003
18
Is uterine papillary serous adenocarcinoma a manifestation of the hereditary breast-ovarian cancer syndrome? ( 11104623 )
2000
19
Histology of prophylactically removed ovaries from BRCA1 and BRCA2 mutation carriers compared with noncarriers in hereditary breast ovarian cancer syndrome kindreds. ( 10985881 )
2000
20
Insurance adjudication favoring prophylactic surgery in hereditary breast-ovarian cancer syndrome. ( 7705697 )
1995

Variations for Hereditary Breast Ovarian Cancer Syndrome

ClinVar genetic disease variations for Hereditary Breast Ovarian Cancer Syndrome:

6
(show top 50) (show all 8830)
# Gene Variation Type Significance SNP ID Assembly Location
1 CHEK2 NM_007194.3(CHEK2): c.1283C> T (p.Ser428Phe) single nucleotide variant risk factor rs137853011 GRCh37 Chromosome 22, 29091207: 29091207
2 CHEK2 NM_007194.3(CHEK2): c.1283C> T (p.Ser428Phe) single nucleotide variant risk factor rs137853011 GRCh38 Chromosome 22, 28695219: 28695219
3 BRCA2 NM_000059.3(BRCA2): c.7004_7007+2delTTCGGT deletion Pathogenic rs397507890 GRCh37 Chromosome 13, 32921030: 32921035
4 BRCA2 NM_000059.3(BRCA2): c.7004_7007+2delTTCGGT deletion Pathogenic rs397507890 GRCh38 Chromosome 13, 32346893: 32346898
5 BRCA2 NM_000059.3(BRCA2): c.6275_6276delTT (p.Leu2092Profs) deletion Pathogenic rs11571658 GRCh37 Chromosome 13, 32914767: 32914768
6 BRCA2 NM_000059.3(BRCA2): c.6275_6276delTT (p.Leu2092Profs) deletion Pathogenic rs11571658 GRCh38 Chromosome 13, 32340630: 32340631
7 BRCA2 NM_000059.3(BRCA2): c.6591_6592delTG (p.Glu2198Asnfs) deletion Pathogenic rs80359605 GRCh37 Chromosome 13, 32915083: 32915084
8 BRCA2 NM_000059.3(BRCA2): c.6591_6592delTG (p.Glu2198Asnfs) deletion Pathogenic rs80359605 GRCh38 Chromosome 13, 32340946: 32340947
9 BRCA2 NM_000059.3(BRCA2): c.5722_5723delCT (p.Leu1908Argfs) deletion Pathogenic rs80359530 GRCh37 Chromosome 13, 32914214: 32914215
10 BRCA2 NM_000059.3(BRCA2): c.5722_5723delCT (p.Leu1908Argfs) deletion Pathogenic rs80359530 GRCh38 Chromosome 13, 32340077: 32340078
11 BRCA2 NM_000059.3(BRCA2): c.2808_2811del (p.Ala938Profs) deletion Pathogenic rs80359351 GRCh37 Chromosome 13, 32911300: 32911303
12 BRCA2 NM_000059.3(BRCA2): c.2808_2811del (p.Ala938Profs) deletion Pathogenic rs80359351 GRCh38 Chromosome 13, 32337163: 32337166
13 BRCA2 NM_000059.3(BRCA2): c.5946delT (p.Ser1982Argfs) deletion Pathogenic rs80359550 GRCh37 Chromosome 13, 32914438: 32914438
14 BRCA2 NM_000059.3(BRCA2): c.5946delT (p.Ser1982Argfs) deletion Pathogenic rs80359550 GRCh38 Chromosome 13, 32340301: 32340301
15 BRCA2 NM_000059.3(BRCA2): c.771_775delTCAAA (p.Asn257Lysfs) deletion Pathogenic rs80359671 GRCh37 Chromosome 13, 32905145: 32905149
16 BRCA2 NM_000059.3(BRCA2): c.771_775delTCAAA (p.Asn257Lysfs) deletion Pathogenic rs80359671 GRCh38 Chromosome 13, 32331008: 32331012
17 BRCA2 NM_000059.3(BRCA2): c.8537_8538delAG (p.Glu2846Glyfs) deletion Pathogenic rs80359714 GRCh37 Chromosome 13, 32945142: 32945143
18 BRCA2 NM_000059.3(BRCA2): c.8537_8538delAG (p.Glu2846Glyfs) deletion Pathogenic rs80359714 GRCh38 Chromosome 13, 32371005: 32371006
19 BRCA2 NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs) deletion Pathogenic rs80359604 GRCh37 Chromosome 13, 32903606: 32903607
20 BRCA2 NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs) deletion Pathogenic rs80359604 GRCh38 Chromosome 13, 32329469: 32329470
21 BRCA2 NM_000059.3(BRCA2): c.4648G> T (p.Glu1550Ter) single nucleotide variant Pathogenic rs80358695 GRCh37 Chromosome 13, 32913140: 32913140
22 BRCA2 NM_000059.3(BRCA2): c.4648G> T (p.Glu1550Ter) single nucleotide variant Pathogenic rs80358695 GRCh38 Chromosome 13, 32339003: 32339003
23 BRCA2 NM_000059.3(BRCA2): c.5645C> G (p.Ser1882Ter) single nucleotide variant Pathogenic rs80358785 GRCh37 Chromosome 13, 32914137: 32914137
24 BRCA2 NM_000059.3(BRCA2): c.5645C> G (p.Ser1882Ter) single nucleotide variant Pathogenic rs80358785 GRCh38 Chromosome 13, 32340000: 32340000
25 BRCA2 NM_000059.3(BRCA2): c.9196C> T (p.Gln3066Ter) single nucleotide variant Pathogenic rs80359180 GRCh37 Chromosome 13, 32954222: 32954222
26 BRCA2 NM_000059.3(BRCA2): c.9196C> T (p.Gln3066Ter) single nucleotide variant Pathogenic rs80359180 GRCh38 Chromosome 13, 32380085: 32380085
27 BRCA2 NM_000059.3(BRCA2): c.631+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs81002897 GRCh37 Chromosome 13, 32900751: 32900751
28 BRCA2 NM_000059.3(BRCA2): c.631+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs81002897 GRCh38 Chromosome 13, 32326614: 32326614
29 BRCA2 NM_000059.3(BRCA2): c.631+2T> G single nucleotide variant Pathogenic rs81002899 GRCh37 Chromosome 13, 32900752: 32900752
30 BRCA2 NM_000059.3(BRCA2): c.631+2T> G single nucleotide variant Pathogenic rs81002899 GRCh38 Chromosome 13, 32326615: 32326615
31 BRCA1 NM_007294.3(BRCA1): c.190T> G (p.Cys64Gly) single nucleotide variant Pathogenic rs80357064 GRCh37 Chromosome 17, 41258495: 41258495
32 BRCA1 NM_007294.3(BRCA1): c.190T> G (p.Cys64Gly) single nucleotide variant Pathogenic rs80357064 GRCh38 Chromosome 17, 43106478: 43106478
33 BRCA1 NM_007294.3(BRCA1): c.181T> G (p.Cys61Gly) single nucleotide variant Pathogenic rs28897672 GRCh37 Chromosome 17, 41258504: 41258504
34 BRCA1 NM_007294.3(BRCA1): c.181T> G (p.Cys61Gly) single nucleotide variant Pathogenic rs28897672 GRCh38 Chromosome 17, 43106487: 43106487
35 BRCA1 NM_007294.3(BRCA1): c.68_69delAG (p.Glu23Valfs) deletion Pathogenic rs80357783 GRCh37 Chromosome 17, 41276047: 41276048
36 BRCA1 NM_007294.3(BRCA1): c.68_69delAG (p.Glu23Valfs) deletion Pathogenic rs80357783 GRCh38 Chromosome 17, 43124030: 43124031
37 BRCA1 NM_007294.3(BRCA1): c.1175_1214del40 (p.Leu392Glnfs) deletion Pathogenic rs80359874 GRCh37 Chromosome 17, 41246334: 41246373
38 BRCA1 NM_007294.3(BRCA1): c.1175_1214del40 (p.Leu392Glnfs) deletion Pathogenic rs80359874 GRCh38 Chromosome 17, 43094317: 43094356
39 BRCA1 NM_007294.3(BRCA1): c.2296_2297delAG (p.Ser766Terfs) deletion Pathogenic rs80357780 GRCh37 Chromosome 17, 41245251: 41245252
40 BRCA1 NM_007294.3(BRCA1): c.2296_2297delAG (p.Ser766Terfs) deletion Pathogenic rs80357780 GRCh38 Chromosome 17, 43093234: 43093235
41 BRCA1 NM_007294.3(BRCA1): c.2681_2682delAA (p.Lys894Thrfs) deletion Pathogenic rs80357971 GRCh37 Chromosome 17, 41244866: 41244867
42 BRCA1 NM_007294.3(BRCA1): c.2681_2682delAA (p.Lys894Thrfs) deletion Pathogenic rs80357971 GRCh38 Chromosome 17, 43092849: 43092850
43 BRCA1 NM_007294.3(BRCA1): c.3005delA (p.Asn1002Thrfs) deletion Pathogenic rs80357601 GRCh38 Chromosome 17, 43092526: 43092526
44 BRCA1 NM_007294.3(BRCA1): c.3005delA (p.Asn1002Thrfs) deletion Pathogenic rs80357601 GRCh37 Chromosome 17, 41244543: 41244543
45 BRCA1 NM_007294.3(BRCA1): c.3607C> T (p.Arg1203Ter) single nucleotide variant Pathogenic rs62625308 GRCh37 Chromosome 17, 41243941: 41243941
46 BRCA1 NM_007294.3(BRCA1): c.3607C> T (p.Arg1203Ter) single nucleotide variant Pathogenic rs62625308 GRCh38 Chromosome 17, 43091924: 43091924
47 BRCA1 NM_007294.3(BRCA1): c.3748G> T (p.Glu1250Ter) single nucleotide variant Pathogenic rs28897686 GRCh37 Chromosome 17, 41243800: 41243800
48 BRCA1 NM_007294.3(BRCA1): c.3748G> T (p.Glu1250Ter) single nucleotide variant Pathogenic rs28897686 GRCh38 Chromosome 17, 43091783: 43091783
49 BRCA1 NM_007294.3(BRCA1): c.3756_3759delGTCT (p.Ser1253Argfs) deletion Pathogenic rs80357868 GRCh37 Chromosome 17, 41243789: 41243792
50 BRCA1 NM_007294.3(BRCA1): c.3756_3759delGTCT (p.Ser1253Argfs) deletion Pathogenic rs80357868 GRCh38 Chromosome 17, 43091772: 43091775

Expression for Hereditary Breast Ovarian Cancer Syndrome

Search GEO for disease gene expression data for Hereditary Breast Ovarian Cancer Syndrome.

Pathways for Hereditary Breast Ovarian Cancer Syndrome

Pathways related to Hereditary Breast Ovarian Cancer Syndrome according to GeneCards Suite gene sharing:

(show all 44)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.87 ATM BARD1 BRCA1 BRIP1 CHEK2 MLH1
2
Show member pathways
13.54 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
3
Show member pathways
13.37 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
4
Show member pathways
13.11 ATM BARD1 BRCA1 BRIP1 CHEK2 MLH1
5
Show member pathways
13.05 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
6
Show member pathways
12.88 BRCA2 MLH1 MSH2 PTEN RAD51 TP53
7
Show member pathways
12.86 ATM BARD1 BRCA1 BRCA2 CHEK2 MRE11
8 12.85 BRCA2 MLH1 MSH2 PTEN RAD51 TP53
9
Show member pathways
12.8 ATM BARD1 BRCA1 BRIP1 CHEK2 MRE11
10
Show member pathways
12.75 ATM BRCA1 BRCA2 PTEN TP53
11
Show member pathways
12.75 BRCA1 BRCA2 MLH1 PTEN TP53
12
Show member pathways
12.65 ATM BRCA1 BRCA2 MLH1 MRE11 NBN
13 12.57 ATM BRCA1 BRCA2 BRIP1 CHEK2 MLH1
14
Show member pathways
12.55 ATM BARD1 BRCA1 CHEK2 MRE11 NBN
15
Show member pathways
12.55 ATM BRCA1 CHEK2 MRE11 NBN PTEN
16
Show member pathways
12.52 ATM BARD1 BRCA1 BRCA2 BRIP1 MRE11
17 12.47 ATM BRCA1 PTEN TP53
18
Show member pathways
12.39 ATM MRE11 NBN RAD50 TP53
19
Show member pathways
12.36 ATM BARD1 BRCA1 BRCA2 BRIP1 MRE11
20 12.34 ATM CHEK2 MRE11 NBN PTEN RAD50
21
Show member pathways
12.31 ATM BRCA1 CHEK2 PTEN TP53
22 12.08 MLH1 MSH2 PTEN TP53
23 12.08 ATM BARD1 BRCA1 BRCA2 CHEK2 MRE11
24 12.06 BRCA1 BRCA2 BRIP1 MLH1 PALB2 RAD51
25
Show member pathways
12.04 ATM BRCA1 CHEK2 MRE11 NBN RAD50
26
Show member pathways
11.92 ATM BARD1 BRCA1 BRCA2 CHEK2 MRE11
27 11.88 ATM BRCA1 MLH1 MSH2 TP53
28
Show member pathways
11.86 MLH1 MSH2 PMS1
29 11.83 ATM BRCA1 CHEK2 PTEN TP53
30 11.75 ATM MRE11 NBN RAD50
31
Show member pathways
11.72 ATM CHEK2 TP53
32 11.68 ATM BARD1 BRCA1 CHEK2 NBN TP53
33 11.66 ATM CHEK2 MRE11 NBN RAD50
34 11.63 ATM CHEK2 TP53
35
Show member pathways
11.5 ATM CHEK2 TP53
36
Show member pathways
11.49 CHEK2 MLH1 MSH2
37
Show member pathways
11.44 MLH1 MSH2 TP53
38 11.33 ATM BRCA1 TP53
39 11.3 BRCA1 MRE11 NBN RAD50
40 11.27 ATM BARD1 BRCA1 CHEK2 MRE11 MSH2
41
Show member pathways
11.11 ATM MRE11 NBN RAD50
42 11.1 ATM BRCA1 TP53
43 10.69 ATM BARD1 BRCA1 MRE11 NBN RAD50
44 10.37 CHEK2 TP53

GO Terms for Hereditary Breast Ovarian Cancer Syndrome

Cellular components related to Hereditary Breast Ovarian Cancer Syndrome according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 PML body GO:0016605 9.88 CHEK2 MRE11 NBN PTEN RAD51 TP53
2 condensed nuclear chromosome GO:0000794 9.76 BRCA1 MLH1 RAD50 RAD51
3 nuclear chromosome, telomeric region GO:0000784 9.76 ATM BRCA2 MRE11 MSH2 NBN RAD50
4 site of double-strand break GO:0035861 9.73 MRE11 NBN RAD50 RAD51
5 chromosome, telomeric region GO:0000781 9.73 ATM CHEK2 MRE11 NBN RAD50 RAD51D
6 condensed chromosome GO:0000793 9.72 BRCA1 MLH1 RAD51
7 lateral element GO:0000800 9.69 BRCA1 BRCA2 RAD51
8 mismatch repair complex GO:0032300 9.67 MLH1 MSH2 PMS1
9 Mre11 complex GO:0030870 9.65 MRE11 NBN RAD50
10 Rad51B-Rad51C-Rad51D-XRCC2 complex GO:0033063 9.62 RAD51 RAD51C RAD51D XRCC2
11 nucleoplasm GO:0005654 9.58 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
12 MutLalpha complex GO:0032389 9.57 MLH1 PMS1
13 BRCA1-A complex GO:0070531 9.56 BARD1 BRCA1
14 BRCA1-BARD1 complex GO:0031436 9.54 BARD1 BRCA1
15 replication fork GO:0005657 9.43 NBN RAD51 RAD51C RAD51D TP53 XRCC2
16 nucleus GO:0005634 10.35 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
17 chromosome GO:0005694 10 BRCA1 MLH1 MRE11 NBN RAD50 RAD51D

Biological processes related to Hereditary Breast Ovarian Cancer Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 66)
# Name GO ID Score Top Affiliating Genes
1 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.99 ATM BRCA1 BRCA2 CHEK2 MLH1 MSH2
2 telomere maintenance GO:0000723 9.98 ATM MRE11 NBN RAD50 RAD51D
3 strand displacement GO:0000732 9.97 ATM BARD1 BRCA1 BRCA2 BRIP1 MRE11
4 DNA duplex unwinding GO:0032508 9.96 BRIP1 MRE11 NBN RAD50
5 DNA double-strand break processing GO:0000729 9.95 ATM BARD1 BRCA1 MRE11 NBN RAD50
6 response to gamma radiation GO:0010332 9.93 BRCA2 CHEK2 TP53 XRCC2
7 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.92 BRCA2 CHEK2 MSH2 TP53
8 response to X-ray GO:0010165 9.91 BRCA2 MSH2 TP53 XRCC2
9 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.91 BRCA1 BRCA2 CHEK2 TP53
10 multicellular organism growth GO:0035264 9.9 ATM PALB2 XRCC2
11 positive regulation of kinase activity GO:0033674 9.9 MRE11 NBN RAD50
12 mitotic recombination GO:0006312 9.9 RAD51 RAD51C RAD51D XRCC2
13 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.89 ATM CHEK2 TP53
14 somitogenesis GO:0001756 9.88 ATM PALB2 XRCC2
15 telomere maintenance via recombination GO:0000722 9.88 BRCA2 RAD50 RAD51 RAD51C
16 nucleotide-excision repair GO:0006289 9.87 BRCA2 RAD51D TP53
17 mismatch repair GO:0006298 9.87 MLH1 MSH2 PMS1
18 DNA damage checkpoint GO:0000077 9.87 BRIP1 CHEK2 NBN
19 DNA recombinase assembly GO:0000730 9.87 RAD51 RAD51C RAD51D XRCC2
20 synapsis GO:0007129 9.86 BRIP1 MLH1 MRE11
21 chromosome organization GO:0051276 9.86 BRCA2 MRE11 RAD51D
22 cellular response to gamma radiation GO:0071480 9.86 ATM CHEK2 TP53
23 positive regulation of protein autophosphorylation GO:0031954 9.85 MRE11 NBN RAD50
24 strand invasion GO:0042148 9.85 RAD51 RAD51C RAD51D XRCC2
25 isotype switching GO:0045190 9.84 MLH1 MSH2 NBN
26 replicative senescence GO:0090399 9.84 ATM CHEK2 TP53
27 meiotic DNA recombinase assembly GO:0000707 9.84 RAD51 RAD51C RAD51D XRCC2
28 determination of adult lifespan GO:0008340 9.83 ATM MSH2 TP53
29 positive regulation of telomere maintenance GO:0032206 9.82 MRE11 NBN RAD50
30 chromosome organization involved in meiotic cell cycle GO:0070192 9.82 ATM RAD50 RAD51
31 negative regulation of telomere capping GO:1904354 9.8 ATM NBN RAD50
32 telomeric 3 overhang formation GO:0031860 9.79 MRE11 NBN RAD50
33 somatic hypermutation of immunoglobulin genes GO:0016446 9.74 MLH1 MSH2
34 intra-S DNA damage checkpoint GO:0031573 9.73 MRE11 MSH2
35 DNA damage response, signal transduction by p53 class mediator GO:0030330 9.73 NBN TP53
36 postreplication repair GO:0006301 9.73 BRCA1 MSH2
37 inner cell mass cell proliferation GO:0001833 9.73 BRCA2 PALB2
38 signal transduction in response to DNA damage GO:0042770 9.72 CHEK2 NBN
39 positive regulation of isotype switching to IgG isotypes GO:0048304 9.72 MLH1 MSH2
40 meiotic telomere clustering GO:0045141 9.72 ATM MLH1
41 protein K6-linked ubiquitination GO:0085020 9.72 BARD1 BRCA1
42 DNA damage induced protein phosphorylation GO:0006975 9.71 ATM CHEK2
43 positive regulation of isotype switching to IgA isotypes GO:0048298 9.7 MLH1 MSH2
44 somatic recombination of immunoglobulin gene segments GO:0016447 9.7 MLH1 MSH2
45 chordate embryonic development GO:0043009 9.7 BRCA1 BRCA2
46 double-strand break repair via homologous recombination GO:0000724 9.7 ATM BRCA1 BRCA2 MRE11 NBN PALB2
47 mitotic recombination-dependent replication fork processing GO:1990426 9.68 BRCA2 RAD51
48 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.68 MLH1 MSH2
49 regulation of mitotic recombination GO:0000019 9.67 MRE11 RAD50
50 reciprocal meiotic recombination GO:0007131 9.23 ATM MLH1 MRE11 RAD50 RAD51 RAD51C

Molecular functions related to Hereditary Breast Ovarian Cancer Syndrome according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 double-stranded DNA binding GO:0003690 9.91 MRE11 MSH2 RAD51 RAD51C RAD51D XRCC2
2 ATPase activity GO:0016887 9.87 MLH1 MSH2 PMS1 RAD50
3 protein C-terminus binding GO:0008022 9.85 BRCA2 MRE11 MSH2 RAD51
4 damaged DNA binding GO:0003684 9.81 BRCA1 MSH2 NBN TP53
5 DNA-dependent ATPase activity GO:0008094 9.8 MSH2 RAD51 RAD51C RAD51D XRCC2
6 ATP-dependent DNA helicase activity GO:0004003 9.76 BRIP1 MRE11 NBN RAD50
7 protein N-terminus binding GO:0047485 9.75 ATM NBN TP53
8 mismatched DNA binding GO:0030983 9.67 MLH1 MSH2 PMS1
9 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.56 MRE11 RAD50
10 recombinase activity GO:0000150 9.56 RAD51 RAD51C RAD51D XRCC2
11 endodeoxyribonuclease activity GO:0004520 9.55 MRE11 RAD51 RAD51C RAD51D XRCC2
12 guanine/thymine mispair binding GO:0032137 9.52 MLH1 MSH2
13 four-way junction DNA binding GO:0000400 9.35 MSH2 RAD51 RAD51C RAD51D XRCC2
14 single-stranded DNA binding GO:0003697 9.23 BRCA2 MLH1 MSH2 PMS1 RAD51 RAD51C
15 protein binding GO:0005515 10.49 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
16 DNA binding GO:0003677 10.17 ATM BRCA1 BRCA2 BRIP1 MRE11 MSH2
17 ATP binding GO:0005524 10.15 ATM BRIP1 CHEK2 MLH1 MSH2 PMS1
18 nucleotide binding GO:0000166 10.02 ATM BRIP1 CHEK2 RAD50 RAD51 RAD51C

Sources for Hereditary Breast Ovarian Cancer Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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