HBOC
MCID: HRD200
MIFTS: 65

Hereditary Breast Ovarian Cancer Syndrome (HBOC)

Categories: Cancer diseases, Genetic diseases, Rare diseases, Reproductive 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 15
Hereditary Breast and Ovarian Cancer Syndrome 58 29 6 43 71
Brca1- and Brca2-Associated Hereditary Breast and Ovarian Cancer 12 24
Hboc 24

Characteristics:

Orphanet epidemiological data:

58
hereditary breast and ovarian cancer syndrome
Inheritance: Autosomal dominant; Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare gynaecological and obstetric diseases


External Ids:

Disease Ontology 12 DOID:5683
MeSH 43 D061325
NCIt 49 C8493
ICD10 via Orphanet 33 C50 C56
UMLS via Orphanet 72 C0677776
Orphanet 58 ORPHA145
UMLS 71 C0677776

Summaries for Hereditary Breast Ovarian Cancer Syndrome

Disease Ontology : 12 A syndrome 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 pancreatic cancer and breast-ovarian cancer, familial 1. An important gene associated with Hereditary Breast Ovarian Cancer Syndrome is BRCA2 (BRCA2 DNA Repair Associated), and among its related pathways/superpathways are Gene Expression and Cell Cycle, Mitotic. The drugs Zoledronic Acid and Coal tar have been mentioned in the context of this disorder. Affiliated tissues include breast, testes and prostate, and related phenotypes are ovarian neoplasm and abnormality of the fallopian tube

Wikipedia : 74 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 166)
# Related Disease Score Top Affiliating Genes
1 pancreatic cancer 33.1 TP53 RAD51 PTEN PALB2 MLH1 BRCA2
2 breast-ovarian cancer, familial 1 31.6 NBN BRCA2 BRCA1
3 breast-ovarian cancer, familial 2 31.4 BRCA2 BRCA1
4 bilateral breast cancer 31.1 RAD51 PTEN PALB2 MLH1 CHEK2 BRCA2
5 primary peritoneal carcinoma 31.0 TP53 BRCA2 BRCA1
6 papillary serous adenocarcinoma 31.0 TP53 BRCA2 BRCA1
7 endometrial hyperplasia 31.0 TP53 PTEN MSH6 MLH1
8 serous cystadenocarcinoma 31.0 TP53 PTEN BRCA2 BRCA1
9 adenocarcinoma 30.8 TP53 PTEN MSH6 MLH1 BRCA2
10 fallopian tube carcinoma 30.7 TP53 RAD51D RAD51C PTEN PALB2 BRCA2
11 ovarian cancer 30.7 XRCC2 TP53 RAD51D RAD51C RAD51 PTEN
12 sporadic breast cancer 30.7 TP53 RAD51C RAD51 PTEN PALB2 NBN
13 endometrial cancer 30.5 TP53 RAD51 PTEN PMS2 MSH6 MLH1
14 li-fraumeni syndrome 30.5 TP53 RAD51D RAD51C PTEN PMS2 PALB2
15 lynch syndrome 30.4 XRCC2 TP53 RAD51D RAD51C RAD50 PTEN
16 cowden syndrome 30.2 TP53 RAD51D RAD51C RAD51 PTEN PMS2
17 breast cancer 30.2 XRCC2 TP53 RAD51D RAD51C RAD51 RAD50
18 fanconi anemia, complementation group a 29.9 XRCC2 TP53 RAD51D RAD51C RAD51 RAD50
19 hereditary site-specific ovarian cancer syndrome 10.8 BRCA2 BRCA1
20 familial ovarian cancer 10.7 BRIP1 BRCA2 BRCA1
21 endosalpingiosis 10.7 TP53 BRCA2 BRCA1
22 mutagen sensitivity 10.7 TP53 BRCA2 BRCA1
23 rare malignant breast tumor 10.7 BRCA2 BRCA1
24 synchronous bilateral breast carcinoma 10.7 BRCA2 BRCA1
25 breast juvenile papillomatosis 10.7 BRCA2 BRCA1
26 uterine corpus serous adenocarcinoma 10.7 TP53 PTEN BRCA1
27 fanconi anemia, complementation group n 10.7 RAD51C PALB2 BRIP1 BRCA2
28 hypertrophy of breast 10.7 TP53 PTEN BRCA2 BRCA1
29 lobular neoplasia 10.7 TP53 BRCA2 BRCA1
30 fanconi anemia, complementation group r 10.7 RAD51C RAD51 PALB2
31 tetraploidy 10.7 BRCA2 BRCA1
32 thoracic benign neoplasm 10.7 TP53 BRCA2 BRCA1
33 breast benign neoplasm 10.7 TP53 BRCA2 BRCA1
34 ovarian cystadenocarcinoma 10.7 TP53 PTEN BRCA2 BRCA1
35 cervical mucinous adenocarcinoma 10.7 TP53 PTEN MSH6
36 cancerophobia 10.7 BRCA2 BRCA1
37 myasthenic syndrome, congenital, 6, presynaptic 10.7 TP53 BRCA2 BRCA1
38 pre-malignant neoplasm 10.7 TP53 PTEN BRCA2 BRCA1
39 fallopian tube endometrioid adenocarcinoma 10.7 RAD51C PMS2 MSH6
40 pituitary carcinoma 10.7 TP53 PMS2 BRCA2
41 spindle cell intraocular melanoma 10.7 PMS2 MLH1
42 adenosquamous colon carcinoma 10.7 PMS2 MSH6 MLH1
43 extrahepatic bile duct adenoma 10.7 PMS2 MSH6 MLH1
44 in situ carcinoma 10.7 TP53 PTEN BRCA2 BRCA1
45 nosophobia 10.7 BRCA2 BRCA1
46 fallopian tube disease 10.7 TP53 RAD51D RAD51C BRCA2 BRCA1
47 appendix carcinoid tumor 10.7 PMS2 MSH6 MLH1
48 breast carcinoma in situ 10.7 TP53 PTEN BRCA2 BRCA1
49 jejunal cancer 10.7 PMS2 MSH6 MLH1
50 tumor predisposition syndrome 10.7 PMS2 PALB2 MRE11 BRCA2

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:

58 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ovarian neoplasm 58 31 hallmark (90%) Very frequent (99-80%) HP:0100615
2 abnormality of the fallopian tube 58 31 hallmark (90%) Very frequent (99-80%) HP:0011027
3 primary peritoneal carcinoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0030406
4 breast carcinoma 58 31 frequent (33%) Frequent (79-30%) HP:0003002
5 melanoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002861
6 neoplasm of the pancreas 58 31 occasional (7.5%) Occasional (29-5%) HP:0002894
7 prostate cancer 58 31 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 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10.42 ATM BARD1 BRCA1 BRCA2 CHEK2 MLH1
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.42 ATM BARD1 BRCA1 BRCA2 CHEK2 MLH1
3 Decreased homologous recombination repair frequency GR00151-A-1 10.39 BRCA1 RAD51 XRCC2 BARD1
4 Decreased homologous recombination repair frequency GR00151-A-2 10.39 BRCA1 RAD51 XRCC2
5 Decreased homologous recombination repair frequency GR00236-A-3 10.39 BRCA1 RAD51 BARD1 BRCA2 PALB2
6 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 10.21 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
7 Increased homologous recombination repair frequency GR00236-A-1 10.06 BARD1 BRCA1 BRCA2 PALB2 RAD51
8 Increased homologous recombination repair frequency GR00236-A-2 10.06 ATM BARD1 BRCA1 BRCA2 PALB2 RAD51
9 Decreased viability with cisplatin GR00101-A-4 9.77 BARD1 BRCA1 BRCA2 BRIP1 RAD51
10 Decreased viability after ionizing radiation GR00232-A-2 9.58 ATM BRCA1 BRCA2
11 Synthetic lethal with cisplatin GR00101-A-1 9.55 BARD1 BRCA1 BRCA2 BRIP1 RAD51
12 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 9.02 BARD1 BRCA1 BRCA2 MRE11 RAD51D

MGI Mouse Phenotypes related to Hereditary Breast Ovarian Cancer Syndrome:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.48 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
2 embryo MP:0005380 10.36 ATM BARD1 BRCA1 BRCA2 MRE11 NBN
3 growth/size/body region MP:0005378 10.29 ATM BARD1 BRCA1 BRCA2 NBN PALB2
4 homeostasis/metabolism MP:0005376 10.28 ATM BRCA1 BRCA2 BRIP1 CHEK2 MLH1
5 endocrine/exocrine gland MP:0005379 10.27 ATM BRCA1 BRCA2 BRIP1 CHEK2 MLH1
6 hematopoietic system MP:0005397 10.27 ATM BRCA1 BRCA2 CHEK2 MLH1 MRE11
7 mortality/aging MP:0010768 10.21 ATM BARD1 BRCA1 BRCA2 CHEK2 MLH1
8 immune system MP:0005387 10.18 ATM BRCA1 BRCA2 CHEK2 MLH1 MRE11
9 integument MP:0010771 10.07 ATM BRCA1 BRCA2 MLH1 MSH6 PALB2
10 neoplasm MP:0002006 10.06 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
11 limbs/digits/tail MP:0005371 9.92 BRCA1 BRCA2 PALB2 PTEN RAD50 RAD51D
12 nervous system MP:0003631 9.8 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
13 reproductive system MP:0005389 9.44 ATM BRCA1 BRCA2 BRIP1 CHEK2 MLH1

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 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zoledronic Acid Approved Phase 2 118072-93-8 68740
2
Coal tar Approved Phase 2 8007-45-2
3
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
4
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
5
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
6
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
7
Niraparib Approved, Investigational Phase 2 1038915-60-4 24958200
8
Glutaral Experimental Phase 2 111-30-8 3485
9
Imidazole Experimental, Investigational Phase 2 288-32-4 795
10 Pharmaceutical Solutions Phase 2
11 Immunologic Factors Phase 2
12 Anti-Bacterial Agents Phase 2
13 Alkylating Agents Phase 2
14 Antibiotics, Antitubercular Phase 2
15 Topoisomerase Inhibitors Phase 2
16 Antimitotic Agents Phase 2
17 Antirheumatic Agents Phase 2
18
Liposomal doxorubicin Phase 2 31703
19 Immunosuppressive Agents Phase 2
20 Albumin-Bound Paclitaxel Phase 2
21 Poly(ADP-ribose) Polymerase Inhibitors Phase 2
22 HBOC 201 Phase 2
23 Blood Substitutes Phase 2
24
Veliparib Investigational Phase 1 912444-00-9 11960529
25
Ethanol Approved 64-17-5 702

Interventional clinical trials:

(show top 50) (show all 59)
# Name Status NCT ID Phase Drugs
1 Protexa® Versus TiLoopBra® in Immediate Breast Reconstruction- A Pilot Study Completed NCT02562170 Phase 4
2 Methods in Education for Breast Cancer Genetics Completed NCT00001806 Phase 3
3 Evaluating the Effectiveness of Inquiry Based Stress Reduction (IBSR) Intervention Versus Regular Care of no Treatment on Well-being, Optimism and Health Behavior of BRCA1/2 Carriers: A Randomized Controlled Trial, RCT. Recruiting NCT03162276 Phase 3
4 Enhancement of Tissue Preservation During Cardiopulmonary Bypass With HBOC-201 (Registry Study) Unknown status NCT00301535 Phase 2 HBOC-201 (hemoglobin glutamer-250 bovine)
5 A Single-Center, Study to Evaluate the Safety and Tolerability of Hemoglobin-Based Oxygen Carrier-201 (HBOC 201) in Trauma Subjects. (Phase II - Safety and Tolerability) Unknown status NCT00301483 Phase 2 Hemoglobin-based oxygen carrier-201 (HBOC 201)
6 Search Allelic Imbalance of Expression of BRCA Genes in Hereditary Risk of Breast and/or Ovarian Cancer Completed NCT01333748 Phase 2
7 A Phase II Randomized Study of the Effect of Zoledronic Acid Versus Observation on Bone Mineral Density of the Lumbar Spine in Women Who Elect to Undergo Surgery That Results in Removal of Both Ovaries Completed NCT00305695 Phase 2 Zoledronic Acid
8 Pilot Randomized Controlled Trial of Inquiry Based Stress Reduction (IBSR) Program for BRCA1/2 Mutation Carriers Completed NCT01367639 Phase 2
9 Phase II, Open-Label Study in the Catheterization Laboratory Setting to Challenge the Concept That HBOC-201 Administration Might Improve Myocardial 'Oxygenation' and Myocardial Function at the Moment of (Brief) Coronary Occlusion Completed NCT00479895 Phase 2 Hemoglobin Based Oxygen Carrier-201 (HBOC-201, Hemopure)
10 A Multi-Center,Randomized,Double-Blind,Placebo-Controlled,Dose Finding Pilot Study, to Evaluate Safety/Feasibility of HBOC-201 in Elective Percutaneous Coronary Revascularization of Subjects With Acute Coronary Syndromes Completed NCT00317512 Phase 2 Hemoglobin-Based Oxygen Carrier-201 (HBOC-201);Voluven
11 Neoadjuvant Carboplatin in Triple Negative Breast Cancer - A Prospective Phase II Study (NACATRINE Trial). Recruiting NCT02978495 Phase 2 Doxorubicin;Carboplatin;Paclitaxel;Cyclophosphamide
12 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, and High Grade Serous Ovarian Cancer Recruiting NCT02203513 Phase 2 LY2606368
13 WISP (Women Choosing Surgical Prevention) Recruiting NCT02760849 Phase 2
14 Trial of Maintenance With Niraparib in Patients With Suboptimal Debulked Stage III, Stage IV or Platinum-sensitive Recurrent Uterine Serous Carcinoma Not yet recruiting NCT04080284 Phase 2 Niraparib
15 Phase II, Multi-Center,Single-Blind,Placebo-Controlled Study,Evaluating Safety & Feasibility of HBOC-201 (Wound Healing Patients With Peripheral Vascular Disease & Undergoing Lower Limb Amputation Due to Critical Lower Limb Ischemia Terminated NCT00300040 Phase 2 Hemoglobin glutamer 250 - bovine;6% Hydroxyethylstarch
16 A Phase 1 Study of Chronically-Dosed, Single-Agent ABT-888 in Patients With Either BRCA 1/2 -Mutated Cancer; Platinum-Refractory Ovarian, Fallopian Tube, or Primary Peritoneal Cancer; or Basal-Like Breast Cancer Completed NCT00892736 Phase 1 Veliparib
17 A Phase 1 Study of ABT-888 in Combination With Carboplatin and Paclitaxel in Advanced Solid Malignancies Completed NCT00535119 Phase 1 Carboplatin;Paclitaxel;Veliparib
18 Familial Cancer Registry and DNA Bank Unknown status NCT02083224
19 Thymidine Kinase 1 in Risk Assessment for Hereditary Breast /Ovarian Cancer Unknown status NCT00855998
20 Attitudes About Childbearing And Fertility In Women Seeking Genetic Testing For Inherited Breast And Ovarian Cancer Syndromes (HBOC) Completed NCT00829959
21 Statewide Communication to Reach Diverse Low Income Women Completed NCT02956681
22 Telemedicine vs. Face-to-Face Cancer Genetic Counseling in Rural Oncology Clinics Completed NCT00609505
23 Understanding Social, Cultural, and Religious Factors Influencing BRCA Genetic Testing in the Orthodox Jewish Community Completed NCT03624088
24 Strategies to Increase the Identification, Genetic Counseling Referral and Genetic Testing for Women at Risk for Hereditary Breast and/or Ovarian Cancer Completed NCT02786147
25 Enhancing At-risk Latina Women's Use of Genetic Counseling for Hereditary Breast and Ovarian Cancer: Using Mental Models to Develop Culturally Targeted Media Completed NCT03075540
26 Genetic Risk: Whether, When, and How to Tell Adolescents Completed NCT03421327
27 Development of a Family Communication and Decision-support Intervention for Women That Carry a BRCA1 or a BRCA2 Mutation and Their At-Risk Female Family Members Completed NCT02154633
28 University of Southern California (USC) Norris Comprehensive Cancer Center and Stanford Cancer Institute Cancer Genetics Hereditary Cancer Panel Testing Completed NCT02324062
29 Genetic Counseling for Breast Cancer Survivors (GC for BC) Completed NCT02451735
30 Adaptation to Living With a BRCA l/2 Mutation in Carriers and Their Partners Completed NCT01866865
31 PROspective Evaluation of GErmline Mutations, Cancer Outcome and Tissue Biomarkers: A Registry for Patients With Triple Negative Breast Cancer and Germline Mutations Recruiting NCT02302742
32 Prospective Randomized Multicenter Trial to Assess the Efficacy of a Structured Physical Exercise Training and Mediterranean Diet in Women With BRCA1/2 Mutations Recruiting NCT02516540
33 Impact of a Psychoeducational Intervention on Expectations and Coping in Young Women (18-40 Years) Exposed to a High Familial Breast/Ovarian Cancer Risk Recruiting NCT02705924
34 Decision Support for BRCA Testing in Ethnically Diverse Women Recruiting NCT03470402
35 Cascade Genetic Testing for Hereditary Breast/Ovarian Cancer and Lynch Syndrome in Switzerland Recruiting NCT03124212
36 Risk-Reducing Surgeries of Salpingo-oophorectomy With/Without Hysterectomy for Carriers With Mutation Genes of Hereditary Ovarian Cancer Recruiting NCT03294343
37 Is it Feasible?: Self-Affirmation for Hereditary Breast and Ovarian Cancer Genetic Counseling Recruiting NCT03225170
38 Cohort Study on Characters and Distribution of Inherited Susceptible Genes Among Epithelial Ovarian Cancer Patients and Their Relatives in the North of China Recruiting NCT03015376
39 Cascade Testing in Families With Newly Diagnosed Hereditary Breast and Ovarian Cancer Syndrome Recruiting NCT04009148
40 Evaluation of the Circulating Concentration of Olfactomédine 4 (OLFM4) in Women With a BRCA1 or 2 Gene Mutation or at High Risk of Developing Breast Cancer, According to the Imaging Recruiting NCT02653105
41 Testing an Intelligent Tutoring System Intervention to Enhance Genetic Risk Assessment in Underserved Blacks and Latinas at Risk of Hereditary Breast Cancer Recruiting NCT03511690
42 Investigation of Tumour Spectrum, Penetrance and Clinical Utility of Germline Mutations in New Breast and Ovarian Cancer Susceptibility Genes. Recruiting NCT03246841
43 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
44 Comparative Effectiveness of Interventions to Increase Guideline-based Genetic Counseling in Ethnically and Geographically Diverse Cancer Survivors Recruiting NCT03326713
45 HEALTH4Families: Optimizing a Weight Management and Health Behavior Intervention for BRCA+ and Lynch Syndrome Families Recruiting NCT04125914
46 Comparison of 3 Modes of Genetic Counseling in High-Risk Public Hospital Recruiting NCT03006913
47 Prospective Randomized Multicenter Trial to Assess the Feasibility of a Structured Physical Exercise Training and Mediterranean-style Diet in Women With BRCA1/2 Mutations Active, not recruiting NCT02087592
48 Radical Fimbriectomy for Young BRCA Mutation Carriers at Risk of Pelvic Serous Carcinoma Active, not recruiting NCT01608074
49 A Cluster Randomized Controlled Trial Comparing Interventions to Enhance Utilization of Genetics Services Among Breast Cancer Patients Active, not recruiting NCT01789684
50 Testing a Culturally Adapted Telephone Genetic Counseling Intervention to Enhance Genetic Risk Assessment in Underserved Latinas at Risk of Hereditary Breast and Ovarian Cancer Active, not recruiting NCT03959267

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:

40
Breast, Testes, Prostate, Ovary, Colon, Lung, Pancreas

Publications for Hereditary Breast Ovarian Cancer Syndrome

Articles related to Hereditary Breast Ovarian Cancer Syndrome:

(show top 50) (show all 483)
# Title Authors PMID Year
1
American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. 24 6
12692171 2003
2
A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. 24 6
7545954 1994
3
ACOG Practice Bulletin No. 103: Hereditary breast and ovarian cancer syndrome. 61 6
19305347 2009
4
BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer 61 6
20301425 1998
5
Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1. 6
29712865 2018
6
Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients. 6
29133208 2018
7
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 6
27854360 2017
8
Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype. 6
25472942 2015
9
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 6
25356965 2015
10
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
11
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 6
24493721 2014
12
Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement. 6
24366376 2014
13
Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force. 6
24366402 2014
14
Functional assays for analysis of variants of uncertain significance in BRCA2. 6
24323938 2014
15
Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. 6
23918944 2013
16
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 6
23788249 2013
17
NSGC practice guideline: risk assessment and genetic counseling for hereditary breast and ovarian cancer. 6
23188549 2013
18
Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer. 6
23269703 2013
19
A guide for functional analysis of BRCA1 variants of uncertain significance. 6
22753008 2012
20
Germline RAD51C mutations confer susceptibility to ovarian cancer. 6
22538716 2012
21
Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients. 6
21990120 2012
22
Tumor suppressor BRCA1 epigenetically controls oncogenic microRNA-155. 6
21946536 2011
23
RAD51C is a susceptibility gene for ovarian cancer. 6
21616938 2011
24
Germline mutations in RAD51D confer susceptibility to ovarian cancer. 6
21822267 2011
25
Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. 6
20400964 2010
26
American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. 6
20065170 2010
27
Ovarian cancer patient with germline mutations in both BRCA1 and NBN genes. 6
18940477 2008
28
Germline BRCA1 mutations predispose to pancreatic adenocarcinoma. 6
18762988 2008
29
Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach. 6
18285836 2008
30
The emerging landscape of breast cancer susceptibility. 6
18163131 2008
31
Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors. 6
17508274 2007
32
American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. 6
17392385 2007
33
Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8. 6
17103455 2007
34
The 185delAG mutation (c.68_69delAG) in the BRCA1 gene triggers translation reinitiation at a downstream AUG codon. 6
16941470 2006
35
ATM activation by ionizing radiation requires BRCA1-associated BAAT1. 6
16452482 2006
36
Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability. 6
16033915 2006
37
Intra-abdominal carcinomatosis after prophylactic oophorectomy in women of hereditary breast ovarian cancer syndrome kindreds associated with BRCA1 and BRCA2 mutations. 61 24
15863145 2005
38
Heterozygote excess is repeatedly observed in females at the BRCA2 locus N372H. 6
15235023 2004
39
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 6
15604628 2004
40
Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects. 6
12955716 2003
41
657del5 mutation in the gene for Nijmegen breakage syndrome (NBS1) in a cohort of Russian children with lymphoid tissue malignancies and controls. 6
12833396 2003
42
Structural consequences of a cancer-causing BRCA1-BRCT missense mutation. 6
12427738 2003
43
Frequency of 657del(5) mutation of the NBS1 gene in the Czech population by polymerase chain reaction with sequence specific primers. 6
12505263 2002
44
BRCA2 T2722R is a deleterious allele that causes exon skipping. 6
12145750 2002
45
Haplotype analysis of a BRCA1: 185delAG mutation in a Chilean family supports its Ashkenazi origins. 6
12220453 2002
46
657del5 mutation in the NBS1 gene is associated with Nijmegen breakage syndrome in a Turkish family. 6
12123493 2002
47
Analysis of BRCA1 and BRCA2 in breast and breast/ovarian cancer families shows population substructure in the Iberian peninsula. 6
12014998 2002
48
The western Swedish BRCA1 founder mutation 3171ins5; a 3.7 cM conserved haplotype of today is a reminiscence of a 1500-year-old mutation. 6
11781691 2001
49
The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript. 6
11385711 2001
50
An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome allele. 6
11279524 2001

Variations for Hereditary Breast Ovarian Cancer Syndrome

ClinVar genetic disease variations for Hereditary Breast Ovarian Cancer Syndrome:

6 (show top 50) (show all 6754) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BRCA2 NM_000059.3(BRCA2):c.5115_5119delinsG (p.Ile1705fs)indel Pathogenic 266848 rs886040565 13:32913607-32913611 13:32339470-32339474
2 BRCA2 NM_000059.3(BRCA2):c.5149del (p.Glu1717fs)deletion Pathogenic 266852 rs886040569 13:32913641-32913641 13:32339504-32339504
3 BRCA2 NM_000059.3(BRCA2):c.5205_5208del (p.Gln1736fs)deletion Pathogenic 266858 rs886040575 13:32913695-32913698 13:32339558-32339561
4 BRCA2 NM_000059.3(BRCA2):c.5216dup (p.Tyr1739Ter)duplication Pathogenic 266861 rs886040578 13:32913707-32913708 13:32339570-32339571
5 BRCA2 NM_000059.3(BRCA2):c.5218_5224del (p.Leu1740fs)deletion Pathogenic 266863 rs886040580 13:32913710-32913716 13:32339573-32339579
6 BRCA2 NM_000059.3(BRCA2):c.5219del (p.Tyr1739_Leu1740insTer)deletion Pathogenic 266865 rs886040582 13:32913709-32913709 13:32339572-32339572
7 BRCA2 NM_000059.3(BRCA2):c.5472_5473insA (p.Ala1825fs)insertion Pathogenic 266878 rs886040593 13:32913964-32913965 13:32339827-32339828
8 BRCA2 NM_000059.3(BRCA2):c.5651_5652insA (p.Cys1885fs)insertion Pathogenic 266886 rs886040601 13:32914143-32914144 13:32340006-32340007
9 BRCA2 NM_000059.3(BRCA2):c.5800C>T (p.Gln1934Ter)SNV Pathogenic 266895 rs886040610 13:32914292-32914292 13:32340155-32340155
10 BRCA2 NM_000059.3(BRCA2):c.5811_5812del (p.Gly1938fs)deletion Pathogenic 266897 rs886040612 13:32914303-32914304 13:32340166-32340167
11 BRCA2 NM_000059.3(BRCA2):c.5835dup (p.Ser1946fs)duplication Pathogenic 266899 rs886040614 13:32914326-32914327 13:32340189-32340190
12 BRCA2 NM_000059.3(BRCA2):c.5966dup (p.Asp1990fs)duplication Pathogenic 266909 rs886040623 13:32914457-32914458 13:32340320-32340321
13 BRCA2 NM_000059.3(BRCA2):c.6052_6053del (p.Lys2017_Ser2018insTer)deletion Pathogenic 266918 rs886040631 13:32914544-32914545 13:32340407-32340408
14 BRCA2 NM_000059.3(BRCA2):c.6081dup (p.Glu2028fs)duplication Pathogenic 266920 rs886040633 13:32914572-32914573 13:32340435-32340436
15 BRCA2 NM_000059.3(BRCA2):c.6080_6081GA[1] (p.Glu2028fs)short repeat Pathogenic 266921 rs886040634 13:32914571-32914572 13:32340434-32340435
16 BRCA2 NM_000059.3(BRCA2):c.6085_6089del (p.Glu2029fs)deletion Pathogenic 266922 rs886040635 13:32914575-32914579 13:32340438-32340442
17 BRCA2 NM_000059.3(BRCA2):c.6244G>T (p.Glu2082Ter)SNV Pathogenic 266931 rs886040642 13:32914736-32914736 13:32340599-32340599
18 BRCA2 NM_000059.3(BRCA2):c.6320del (p.Pro2107fs)deletion Pathogenic 266939 rs886040650 13:32914811-32914811 13:32340674-32340674
19 BRCA2 NM_000059.3(BRCA2):c.6396dup (p.Ser2133fs)duplication Pathogenic 266944 rs886040654 13:32914887-32914888 13:32340750-32340751
20 BRCA2 NM_000059.3(BRCA2):c.6478C>T (p.Gln2160Ter)SNV Pathogenic 266950 rs886040658 13:32914970-32914970 13:32340833-32340833
21 BRCA2 NM_000059.3(BRCA2):c.6502G>T (p.Gly2168Ter)SNV Pathogenic 266953 rs886040660 13:32914994-32914994 13:32340857-32340857
22 BRCA2 NM_000059.3(BRCA2):c.6528_6535dup (p.Val2179fs)duplication Pathogenic 266957 rs1555284738 13:32915019-32915020 13:32340882-32340883
23 BRCA2 NM_000059.3(BRCA2):c.6531dup (p.His2178fs)duplication Pathogenic 266958 rs886040664 13:32915021-32915022 13:32340884-32340885
24 BRCA2 NM_000059.3(BRCA2):c.6976del (p.Ser2326fs)deletion Pathogenic 266977 rs886040679 13:32921000-32921000 13:32346863-32346863
25 BRCA2 NM_000059.3(BRCA2):c.7002del (p.Arg2336fs)deletion Pathogenic 266979 rs869040376 13:32921026-32921026 13:32346889-32346889
26 BRCA2 NM_000059.3(BRCA2):c.7110dup (p.Ser2371fs)duplication Pathogenic 266985 rs80359638 13:32929095-32929096 13:32354958-32354959
27 BRCA2 NM_000059.3(BRCA2):c.7152del (p.Val2385fs)deletion Pathogenic 266987 rs886040688 13:32929141-32929141 13:32355004-32355004
28 BRCA2 NM_000059.3(BRCA2):c.7389_7392del (p.Asn2463fs)deletion Pathogenic 267006 rs886040704 13:32929376-32929379 13:32355239-32355242
29 BRCA2 NM_000059.3(BRCA2):c.7425del (p.Glu2476fs)deletion Pathogenic 267009 rs886040706 13:32929414-32929414 13:32355277-32355277
30 BRCA2 NM_000059.3(BRCA2):c.7485dup (p.Lys2496Ter)duplication Pathogenic 267013 rs886038171 13:32930612-32930613 13:32356475-32356476
31 BRCA2 NM_000059.3(BRCA2):c.7501C>T (p.Gln2501Ter)SNV Pathogenic 267015 rs886040711 13:32930630-32930630 13:32356493-32356493
32 BRCA2 NM_000059.3(BRCA2):c.7517dup (p.Pro2507fs)duplication Pathogenic 267017 rs886040713 13:32930645-32930646 13:32356508-32356509
33 BRCA2 NM_000059.3(BRCA2):c.7615C>T (p.Gln2539Ter)SNV Pathogenic 267024 rs886040720 13:32930744-32930744 13:32356607-32356607
34 BRCA2 NM_000059.3(BRCA2):c.7795G>T (p.Glu2599Ter)SNV Pathogenic 267036 rs41293509 13:32932056-32932056 13:32357919-32357919
35 BRCA2 NM_000059.3(BRCA2):c.7811_7812TG[2] (p.Cys2605_Asp2606delinsTer)short repeat Pathogenic 267037 rs886040730 13:32936665-32936666 13:32362528-32362529
36 BRCA2 NM_000059.3(BRCA2):c.7865dup (p.Asn2622fs)duplication Pathogenic 267039 rs886040732 13:32936717-32936718 13:32362580-32362581
37 BRCA2 NM_000059.3(BRCA2):c.7974C>A (p.Tyr2658Ter)SNV Pathogenic 267045 rs80359025 13:32936828-32936828 13:32362691-32362691
38 BRCA2 NM_000059.3(BRCA2):c.8201del (p.Pro2734fs)deletion Pathogenic 267060 rs886040750 13:32937539-32937539 13:32363402-32363402
39 BRCA2 NM_000059.3(BRCA2):c.8276_8279del (p.Val2759fs)deletion Pathogenic 267063 rs886040753 13:32937613-32937616 13:32363476-32363479
40 BRCA2 NM_000059.3(BRCA2):c.8330del (p.Lys2777fs)deletion Pathogenic 267073 rs886040762 13:32937667-32937667 13:32363530-32363530
41 BRCA2 NM_000059.3(BRCA2):c.8434_8435insC (p.Gly2812fs)insertion Pathogenic 267085 rs886040774 13:32944641-32944642 13:32370504-32370505
42 BRCA2 NM_000059.3(BRCA2):c.8470A>T (p.Arg2824Ter)SNV Pathogenic 267089 rs886040778 13:32944677-32944677 13:32370540-32370540
43 BRCA2 NM_000059.3(BRCA2):c.8562del (p.Lys2853_Tyr2854insTer)deletion Pathogenic 267097 rs886040782 13:32945167-32945167 13:32371030-32371030
44 BRCA2 NM_000059.3(BRCA2):c.8777T>A (p.Leu2926Ter)SNV Pathogenic 267106 rs886040791 13:32953476-32953476 13:32379339-32379339
45 BRCA2 NM_000059.3(BRCA2):c.8850_8851dup (p.Ala2951fs)duplication Pathogenic 267111 rs886040796 13:32953548-32953549 13:32379411-32379412
46 BRCA2 NM_000059.3(BRCA2):c.8941G>T (p.Glu2981Ter)SNV Pathogenic 267121 rs139052578 13:32953640-32953640 13:32379503-32379503
47 BRCA2 NM_000059.3(BRCA2):c.8951C>A (p.Ser2984Ter)SNV Pathogenic 267123 rs80359146 13:32953650-32953650 13:32379513-32379513
48 BRCA2 NM_000059.3(BRCA2):c.9106C>T (p.Gln3036Ter)SNV Pathogenic 267139 rs202155613 13:32954039-32954039 13:32379902-32379902
49 BRCA2 NM_000059.3(BRCA2):c.9331_9335delinsCCT (p.Glu3111fs)indel Pathogenic 267152 rs886040831 13:32968900-32968904 13:32394763-32394767
50 BRCA2 NM_000059.3(BRCA2):c.9351dup (p.Met3118fs)duplication Pathogenic 267154 rs886040833 13:32968919-32968920 13:32394782-32394783

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 45)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.87 TP53 RAD51D RAD50 PTEN PMS2 NBN
2
Show member pathways
13.54 TP53 RAD51C RAD51 RAD50 NBN MRE11
3
Show member pathways
13.09 TP53 RAD51D RAD50 PTEN PMS2 NBN
4
Show member pathways
13.07 TP53 RAD51 RAD50 NBN MSH6 MRE11
5
Show member pathways
12.89 TP53 RAD51 PTEN MSH6 MLH1 BRCA2
6
Show member pathways
12.87 TP53 RAD51 RAD50 NBN MSH6 MRE11
7 12.86 TP53 RAD51 PTEN MSH6 MLH1 BRCA2
8
Show member pathways
12.8 TP53 RAD50 NBN MRE11 CHEK2 BRIP1
9
Show member pathways
12.75 TP53 PTEN MLH1 BRCA2 BRCA1
10
Show member pathways
12.71 TP53 PTEN MSH6 BRCA2 BRCA1 ATM
11
Show member pathways
12.66 RAD51C RAD51 RAD50 NBN MRE11 MLH1
12
Show member pathways
12.58 XRCC2 TP53 RAD51D RAD51C RAD51 RAD50
13
Show member pathways
12.56 TP53 RAD51 RAD50 PTEN NBN MRE11
14
Show member pathways
12.55 TP53 RAD50 NBN MRE11 CHEK2 BRCA1
15 12.51 TP53 RAD51 RAD50 NBN MSH6 MRE11
16
Show member pathways
12.4 TP53 RAD50 NBN MRE11 ATM
17 12.34 TP53 RAD50 PTEN NBN MRE11 CHEK2
18 12.32 TP53 PTEN CHEK2 ATM
19
Show member pathways
12.31 TP53 PTEN CHEK2 BRCA1 ATM
20 12.3 TP53 RAD51 RAD50 PTEN MSH6 MRE11
21
Show member pathways
12.14 XRCC2 RAD51D RAD51C RAD51 RAD50 PALB2
22 12.09 TP53 PTEN PMS2 MLH1
23 12.08 RAD51C RAD51 PMS2 PALB2 MLH1 BRIP1
24
Show member pathways
12.07 XRCC2 RAD51D RAD51C RAD51 RAD50 PALB2
25
Show member pathways
12.04 TP53 RAD51 RAD50 NBN MRE11 CHEK2
26
Show member pathways
11.98 TP53 RAD51 RAD50 NBN MSH6 MRE11
27 11.88 TP53 MSH6 MLH1 BRCA1 ATM
28
Show member pathways
11.85 PMS2 MSH6 MLH1
29 11.83 TP53 PTEN CHEK2 BRCA1 ATM
30 11.81 TP53 MSH6 BARD1
31 11.75 RAD50 NBN MRE11 ATM
32
Show member pathways
11.73 TP53 CHEK2 ATM
33 11.72 TP53 RAD50 PTEN MSH6 MRE11 CHEK2
34 11.68 TP53 NBN CHEK2 BRCA1 BARD1 ATM
35 11.66 RAD50 NBN MRE11 CHEK2 ATM
36 11.63 TP53 CHEK2 ATM
37
Show member pathways
11.5 TP53 CHEK2 ATM
38 11.5 TP53 RAD51 RAD50 NBN MRE11 BRCA1
39 11.34 TP53 BRCA1 ATM
40 11.3 RAD50 NBN MRE11 BRCA1
41 11.29 PMS2 MSH6 MLH1
42
Show member pathways
11.19 RAD50 NBN MRE11
43
Show member pathways
11.11 RAD50 NBN MRE11 ATM
44 11.1 TP53 BRCA1 ATM
45 10.37 TP53 CHEK2

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 nucleus GO:0005634 10.3 XRCC2 TP53 RAD51D RAD51C RAD51 RAD50
2 chromosome GO:0005694 10.03 RAD51D RAD51 RAD50 NBN MSH6 MRE11
3 PML body GO:0016605 9.85 TP53 RAD51 PTEN NBN MRE11 CHEK2
4 site of double-strand break GO:0035861 9.8 TP53 RAD51 RAD50 NBN MRE11
5 condensed nuclear chromosome GO:0000794 9.78 RAD51 RAD50 MLH1 BRCA1
6 chromosome, telomeric region GO:0000781 9.73 RAD51D RAD50 NBN MRE11 CHEK2 ATM
7 condensed chromosome GO:0000793 9.72 RAD51 MLH1 BRCA1
8 lateral element GO:0000800 9.7 RAD51 BRCA2 BRCA1
9 nuclear chromosome, telomeric region GO:0000784 9.7 RAD51D RAD51 RAD50 NBN MRE11 BRCA2
10 mismatch repair complex GO:0032300 9.69 PMS2 MSH6 MLH1
11 Mre11 complex GO:0030870 9.67 RAD50 NBN MRE11
12 Rad51B-Rad51C-Rad51D-XRCC2 complex GO:0033063 9.63 XRCC2 RAD51D RAD51C
13 nucleoplasm GO:0005654 9.6 XRCC2 TP53 RAD51D RAD51C RAD51 RAD50
14 MutLalpha complex GO:0032389 9.57 PMS2 MLH1
15 BRCA1-A complex GO:0070531 9.56 BRCA1 BARD1
16 BRCA1-BARD1 complex GO:0031436 9.54 BRCA1 BARD1
17 replication fork GO:0005657 9.43 XRCC2 TP53 RAD51D RAD51C NBN MRE11

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

(show top 50) (show all 58)
# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 10.22 TP53 RAD50 NBN MLH1 CHEK2 BRCA2
2 negative regulation of apoptotic process GO:0043066 10.12 TP53 PTEN PALB2 MRE11 BARD1
3 cell proliferation GO:0008283 10.06 TP53 PTEN NBN MRE11 BRCA2
4 DNA replication GO:0006260 10.04 RAD50 NBN MRE11 BRIP1 BRCA1 BARD1
5 protein deubiquitination GO:0016579 10.02 TP53 PTEN BRCA1 BARD1
6 in utero embryonic development GO:0001701 10.02 XRCC2 TP53 PALB2 NBN
7 meiotic cell cycle GO:0051321 10.01 XRCC2 RAD51 RAD50 NBN MRE11 MLH1
8 regulation of cell cycle GO:0051726 10 TP53 RAD51D PTEN ATM
9 double-strand break repair via nonhomologous end joining GO:0006303 10 RAD50 NBN MRE11 MLH1 BRCA1 BARD1
10 cell cycle arrest GO:0007050 9.99 TP53 NBN BARD1 ATM
11 double-strand break repair GO:0006302 9.97 TP53 RAD50 NBN MRE11 CHEK2 BRIP1
12 regulation of signal transduction by p53 class mediator GO:1901796 9.97 TP53 RAD50 NBN MRE11 CHEK2 BRIP1
13 multicellular organism growth GO:0035264 9.96 XRCC2 TP53 PALB2 ATM
14 DNA duplex unwinding GO:0032508 9.96 RAD50 NBN MRE11 BRIP1
15 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.95 MSH6 MLH1 CHEK2 BRCA2 BRCA1 ATM
16 reciprocal meiotic recombination GO:0007131 9.95 RAD51D RAD51C RAD51 RAD50 MRE11 MLH1
17 somitogenesis GO:0001756 9.93 XRCC2 TP53 PALB2 ATM
18 telomere maintenance GO:0000723 9.92 RAD51D RAD50 NBN MRE11 ATM
19 DNA damage checkpoint GO:0000077 9.91 NBN CHEK2 BRIP1 ATM
20 cellular response to gamma radiation GO:0071480 9.91 TP53 RAD51 CHEK2 ATM
21 DNA double-strand break processing GO:0000729 9.91 RAD50 NBN MRE11 BRCA1 BARD1 ATM
22 DNA recombination GO:0006310 9.91 XRCC2 RAD51D RAD51C RAD51 RAD50 PALB2
23 chromosome organization GO:0051276 9.9 TP53 RAD51D MRE11 BRCA2
24 double-strand break repair via homologous recombination GO:0000724 9.9 XRCC2 RAD51D RAD51C RAD51 RAD50 PALB2
25 DNA repair GO:0006281 9.89 XRCC2 RAD51D RAD51C RAD51 RAD50 PMS2
26 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.88 TP53 CHEK2 ATM
27 interstrand cross-link repair GO:0036297 9.88 RAD51D RAD51 MSH6
28 nucleotide-excision repair GO:0006289 9.88 TP53 BRIP1 BRCA2
29 response to gamma radiation GO:0010332 9.88 XRCC2 TP53 CHEK2 BRCA2
30 mismatch repair GO:0006298 9.86 PMS2 MSH6 MLH1
31 intrinsic apoptotic signaling pathway GO:0097193 9.86 TP53 NBN MSH6
32 response to X-ray GO:0010165 9.86 XRCC2 TP53 RAD51 BRCA2
33 synapsis GO:0007129 9.85 MRE11 MLH1 BRIP1
34 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.85 TP53 CHEK2 BRCA2
35 positive regulation of protein autophosphorylation GO:0031954 9.85 RAD50 NBN MRE11
36 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.85 TP53 CHEK2 BRCA2 BRCA1
37 positive regulation of kinase activity GO:0033674 9.83 RAD50 NBN MRE11
38 determination of adult lifespan GO:0008340 9.83 TP53 MSH6 ATM
39 isotype switching GO:0045190 9.82 NBN MSH6 MLH1
40 somatic hypermutation of immunoglobulin genes GO:0016446 9.82 PMS2 MSH6 MLH1
41 replicative senescence GO:0090399 9.81 TP53 CHEK2 ATM
42 telomere maintenance via recombination GO:0000722 9.81 RAD51C RAD51 RAD50 BRCA2
43 positive regulation of telomere maintenance GO:0032206 9.8 RAD50 NBN MRE11
44 chromosome organization involved in meiotic cell cycle GO:0070192 9.8 RAD51 RAD50 ATM
45 negative regulation of telomere capping GO:1904354 9.77 RAD50 NBN ATM
46 strand invasion GO:0042148 9.75 XRCC2 RAD51D RAD51
47 telomeric 3' overhang formation GO:0031860 9.74 RAD50 NBN MRE11
48 inner cell mass cell proliferation GO:0001833 9.72 PALB2 BRCA2
49 signal transduction in response to DNA damage GO:0042770 9.72 NBN CHEK2
50 meiotic telomere clustering GO:0045141 9.71 MLH1 ATM

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 protein binding GO:0005515 10.37 XRCC2 TP53 SPINK2 RAD51D RAD51C RAD51
2 identical protein binding GO:0042802 10.08 TP53 RAD51 RAD50 PTEN MRE11 CHEK2
3 chromatin binding GO:0003682 9.96 TP53 RAD51 MSH6 MLH1 BRIP1
4 enzyme binding GO:0019899 9.93 TP53 RAD51 PTEN MSH6 MLH1 BRCA1
5 nucleotide binding GO:0000166 9.91 RAD51 RAD50 CHEK2 BRIP1 ATM
6 ATPase activity GO:0016887 9.88 RAD50 PMS2 MSH6 MLH1
7 protein C-terminus binding GO:0008022 9.84 TP53 RAD51 MRE11 BRCA2
8 DNA helicase activity GO:0003678 9.73 RAD50 NBN MRE11 BRIP1
9 ATP binding GO:0005524 9.73 XRCC2 TP53 RAD51D RAD51C RAD51 RAD50
10 damaged DNA binding GO:0003684 9.72 NBN MSH6 BRCA1
11 single-stranded DNA binding GO:0003697 9.72 RAD51D RAD51 PMS2 MLH1 BRCA2
12 mismatched DNA binding GO:0030983 9.58 PMS2 MSH6 MLH1
13 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.57 RAD50 MRE11
14 four-way junction DNA binding GO:0000400 9.56 XRCC2 RAD51D RAD51C MSH6
15 DNA-dependent ATPase activity GO:0008094 9.55 XRCC2 RAD51D RAD51C RAD51 MSH6
16 MutSalpha complex binding GO:0032407 9.52 PMS2 MLH1
17 guanine/thymine mispair binding GO:0032137 9.49 MSH6 MLH1
18 DNA binding GO:0003677 9.47 XRCC2 TP53 RAD51D RAD51C RAD51 RAD50

Sources for Hereditary Breast Ovarian Cancer Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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30 HMDB
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43 MeSH
44 MESH via Orphanet
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68 SNOMED-CT via HPO
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