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HBOC
MCID: HRD200
MIFTS: 67

Hereditary Breast Ovarian Cancer Syndrome (HBOC)

Categories: Cancer diseases, Genetic diseases, Rare diseases, Reproductive diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Hereditary Breast Ovarian Cancer Syndrome

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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 44 70
Brca1- and Brca2-Associated Hereditary Breast and Ovarian Cancer 12 25
Hboc 25

Characteristics:

Orphanet epidemiological data:

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

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Cancer diseases
Anatomical: Reproductive diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare gynaecological and obstetric diseases


External Ids:

Disease Ontology 12 DOID:5683
MeSH 44 D061325
NCIt 50 C8493
SNOMED-CT 67 718220008
ICD10 via Orphanet 33 C50 C56
UMLS via Orphanet 71 C0677776
Orphanet 58 ORPHA145
UMLS 70 C0677776
Sources

Summaries for Hereditary Breast Ovarian Cancer Syndrome

About this section
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 breast-ovarian cancer, familial 2 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, prostate and ovary, and related phenotypes are ovarian neoplasm and primary peritoneal carcinoma

Wikipedia : 73 Hereditary breast-ovarian cancer syndromes (HBOC) are cancer syndromes that produce higher than normal... more...

GeneReviews: NBK1247
Sources

Related Diseases for Hereditary Breast Ovarian Cancer Syndrome

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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 156)
# Related Disease Score Top Affiliating Genes
1 breast-ovarian cancer, familial 2 31.5 BRCA2 BRCA1
2 breast-ovarian cancer, familial 1 31.4 RAD51C PALB2 NBN BRCA2 BRCA1
3 ovarian cancer 31.3 TP53 RAD51L3-RFFL RAD51D RAD51C PTCH1 PMS2
4 primary peritoneal carcinoma 30.9 TP53 BRCA2 BRCA1
5 papillary serous adenocarcinoma 30.9 TP53 BRCA2 BRCA1
6 ataxia-telangiectasia 30.9 TP53 NBN CHEK2 BRCA2 BRCA1 ATM
7 serous cystadenocarcinoma 30.9 TP53 BRCA2 BRCA1
8 fallopian tube carcinoma 30.9 TP53 RAD51D RAD51C PALB2 BRCA2 BRCA1
9 bilateral breast cancer 30.9 TP53 PALB2 CHEK2 BRCA2 BRCA1 ATM
10 lynch syndrome 30.7 TP53 RAD51L3-RFFL RAD51D RAD51C PMS2 PALB2
11 sporadic breast cancer 30.6 TP53 RAD51C PALB2 NBN CHEK2 BRCA2
12 rhabdomyosarcoma 30.6 TP53 PTCH1 PMS2 CHEK2 BRCA2 BRCA1
13 breast cancer 30.6 TP53 RAD51L3-RFFL RAD51D RAD51C PMS2 PALB2
14 li-fraumeni syndrome 30.6 TP53 RAD51D RAD51C PTCH1 PMS2 PALB2
15 hereditary nonpolyposis colon cancer 30.5 PMS2 BRCA2 BRCA1
16 cowden syndrome 30.3 TP53 RAD51D RAD51C PMS2 PALB2 CHEK2
17 gastric cancer, hereditary diffuse 30.3 TP53 RAD51D RAD51C PMS2 PALB2 CTNNA1
18 fanconi anemia, complementation group a 30.3 TP53 RAD51D RAD51C PTCH1 PMS2 PALB2
19 pancreatic cancer 11.5
20 fallopian tube clear cell adenocarcinoma 10.6 BRCA2 BRCA1
21 basaloid lung carcinoma 10.6 TP53 BRCA2 BRCA1
22 mutagen sensitivity 10.6 TP53 BRCA2 BRCA1
23 bap1 tumor predisposition syndrome 10.6 PMS2 PALB2 BRCA2
24 hypertrophy of breast 10.6 TP53 BRCA2 BRCA1
25 ovary transitional cell carcinoma 10.6 BRCA2 BRCA1
26 tracheoesophageal fistula with or without esophageal atresia 10.6 PALB2 BRIP1 BRCA2
27 synchronous bilateral breast carcinoma 10.6 TP53 BRCA2 BRCA1 ATM
28 female reproductive endometrioid cancer 10.6 TP53 PMS2 BRCA2 BRCA1
29 cancerophobia 10.6 BRCA2 BRCA1
30 fanconi anemia, complementation group n 10.6 RAD51C PALB2 BRIP1 BRCA2
31 nosophobia 10.6 BRCA2 BRCA1
32 thoracic benign neoplasm 10.6 TP53 BRCA2 BRCA1
33 breast benign neoplasm 10.6 TP53 BRCA2 BRCA1
34 lobular neoplasia 10.6 TP53 CTNNA1 BRCA2 BRCA1
35 ovarian cystadenocarcinoma 10.6 TP53 BRCA2 BRCA1
36 pituitary carcinoma 10.5 TP53 PMS2 BRCA2
37 hereditary site-specific ovarian cancer syndrome 10.5 RAD51L3-RFFL RAD51D RAD51C BRCA2 BRCA1
38 tetraploidy 10.5 BRCA2 BRCA1
39 uterine corpus cancer 10.5 TP53 PMS2 BRCA2 BRCA1
40 diffuse midline glioma, h3 k27m-mutant 10.5 TP53 CHEK2 BRIP1 BRCA2
41 b-lymphoblastic leukemia/lymphoma with hyperdiploidy 10.5 BRCA2 BRCA1
42 fanconi anemia, complementation group d1 10.5 RAD51C PALB2 BRIP1 BRCA2 BRCA1
43 fanconi anemia, complementation group j 10.5 RAD51C PALB2 BRIP1 BRCA2 BRCA1
44 calcifying epithelial odontogenic tumor 10.5 TP53 PTCH1
45 ruvalcaba syndrome 10.5 BRCA2 BRCA1
46 bloom syndrome 10.5 TP53 BRCA2 BRCA1 ATM
47 female breast cancer 10.5 TP53 PALB2 BRCA2 BRCA1 ATM
48 myasthenic syndrome, congenital, 6, presynaptic 10.5 TP53 BRCA2 BRCA1
49 dysplastic nevus syndrome 10.5 PMS2 PALB2 BRCA2 BRCA1 ATM
50 papillary adenocarcinoma 10.5 TP53 BRCA2 BRCA1

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



Diseases related to Hereditary Breast Ovarian Cancer Syndrome
Sources

Symptoms & Phenotypes for Hereditary Breast Ovarian Cancer Syndrome

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Human phenotypes related to Hereditary Breast Ovarian Cancer Syndrome:

58 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ovarian neoplasm 58 31 hallmark (90%) Very frequent (99-80%) HP:0100615
2 primary peritoneal carcinoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0030406
3 abnormal fallopian tube morphology 31 hallmark (90%) HP:0011027
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
8 abnormality of the fallopian tube 58 Very frequent (99-80%)

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

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-1 10.37 ATM BARD1 CHEK2 RAD51D TP53
2 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-2 10.37 ATM BARD1 BRCA1 BRIP1 CHEK2 LCP1
3 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 10.37 ATM BARD1 BRCA1 BRCA2 BRIP1 LCP1
4 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10.33 BARD1 BRCA1 BRCA2 LCP1 NBN PALB2
5 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.33 ATM BRCA1 BRCA2 LCP1 PALB2 PLK2
6 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 10.33 ATM BARD1 BRCA1 BRCA2 CHEK2 LCP1
7 Decreased homologous recombination repair frequency GR00151-A-1 10.28 BARD1 BRCA1
8 Decreased homologous recombination repair frequency GR00151-A-2 10.28 BRCA1
9 Decreased homologous recombination repair frequency GR00236-A-1 10.28 BARD1 BRCA1 BRCA2 PALB2
10 Decreased homologous recombination repair frequency GR00236-A-2 10.28 BARD1 BRCA1 BRCA2 PALB2
11 Decreased homologous recombination repair frequency GR00236-A-3 10.28 BARD1 BRCA1 BRCA2 PALB2
12 Decreased viability with cisplatin GR00101-A-4 9.62 BARD1 BRCA1 BRCA2 BRIP1
13 Decreased viability after ionizing radiation GR00232-A-2 9.54 ATM BRCA1 BRCA2
14 Synthetic lethal with cisplatin GR00101-A-1 9.46 BARD1 BRCA1 BRCA2 BRIP1
15 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 9.02 BARD1 BRCA1 BRCA2 CTNNA1 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 10.4 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
2 growth/size/body region MP:0005378 10.32 ATM BARD1 BRCA1 BRCA2 CTNNA1 CTNNA2
3 endocrine/exocrine gland MP:0005379 10.31 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
4 embryo MP:0005380 10.29 ATM BARD1 BRCA1 BRCA2 CTNNA1 NBN
5 homeostasis/metabolism MP:0005376 10.25 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
6 mortality/aging MP:0010768 10.25 ATM BARD1 BRCA1 BRCA2 CHEK2 CTNNA1
7 hematopoietic system MP:0005397 10.2 ATM BRCA1 BRCA2 CHEK2 CTNNA2 DROSHA
8 integument MP:0010771 10.1 ATM BRCA1 BRCA2 BRIP1 CTNNA1 DROSHA
9 neoplasm MP:0002006 10.03 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
10 nervous system MP:0003631 10 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
11 limbs/digits/tail MP:0005371 9.97 BRCA1 BRCA2 BRIP1 CTNNA1 PALB2 PTCH1
12 reproductive system MP:0005389 9.4 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
13 pigmentation MP:0001186 9.35 BRCA1 BRIP1 CTNNA1 PTCH1 TP53
Sources

Drugs & Therapeutics for Hereditary Breast Ovarian Cancer Syndrome

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

(show all 26)
# 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
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
4
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
5
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
6
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
7
Glutaral Experimental Phase 2 111-30-8 3485
8
Imidazole Experimental, Investigational Phase 2 288-32-4 795
9 Tubulin Modulators Phase 2
10 Antimitotic Agents Phase 2
11 Albumin-Bound Paclitaxel Phase 2
12
Liposomal doxorubicin Phase 2 31703
13 Antirheumatic Agents Phase 2
14 Antibiotics, Antitubercular Phase 2
15 Immunosuppressive Agents Phase 2
16 Anti-Bacterial Agents Phase 2
17 Alkylating Agents Phase 2
18 Immunologic Factors Phase 2
19 Blood Substitutes Phase 2
20 HBOC 201 Phase 2
21 Plasma Substitutes Phase 2
22 Hydroxyethyl Starch Derivatives Phase 2
23
Veliparib Investigational Phase 1 912444-00-9 11960529
24 Poly(ADP-ribose) Polymerase Inhibitors Phase 1
25
Ethanol Approved 64-17-5 702
26 Pharmaceutical Solutions

Interventional clinical trials:

(show top 50) (show all 54)
# Name Status NCT ID Phase Drugs
1 Protexa® Versus TiLoopBra® in Immediate Breast Reconstruction- A Pilot Study Completed NCT02562170 Phase 4
2 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. Unknown status NCT03162276 Phase 3
3 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)
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 Search Allelic Imbalance of Expression of BRCA Genes in Hereditary Risk of Breast and/or Ovarian Cancer Completed NCT01333748 Phase 2
6 Pilot Randomized Controlled Trial of Inquiry Based Stress Reduction (IBSR) Program for BRCA1/2 Mutation Carriers Completed NCT01367639 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 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
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 Neoadjuvant Carboplatin in Triple Negative Breast Cancer - A Prospective Phase II Study (NACATRINE Trial). Recruiting NCT02978495 Phase 2 Doxorubicin;Carboplatin;Paclitaxel;Cyclophosphamide
11 WISP (Women Choosing Surgical Prevention) Active, not recruiting NCT02760849 Phase 2
12 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
13 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
14 A Phase 1 Study of ABT-888 in Combination With Carboplatin and Paclitaxel in Advanced Solid Malignancies Completed NCT00535119 Phase 1 Carboplatin;Paclitaxel;Veliparib
15 Cohort Study on Characters and Distribution of Inherited Susceptible Genes Among Epithelial Ovarian Cancer Patients and Their Relatives in the North of China Unknown status NCT03015376
16 Strategies to Increase the Identification, Genetic Counseling Referral and Genetic Testing for Women at Risk for Hereditary Breast and/or Ovarian Cancer Completed NCT02786147
17 Telemedicine vs. Face-to-Face Cancer Genetic Counseling in Rural Oncology Clinics Completed NCT00609505
18 Genetic Risk: Whether, When, and How to Tell Adolescents Completed NCT03421327
19 Tissue Expansion in Breast Reconstruction Without Drains: A Study Using a Tissue Expander That Collects Periprosthetic Fluid Completed NCT03784859
20 University of Southern California (USC) Norris Comprehensive Cancer Center and Stanford Cancer Institute Cancer Genetics Hereditary Cancer Panel Testing Completed NCT02324062
21 Statewide Communication to Reach Diverse Low Income Women Completed NCT02956681
22 Is it Feasible?: Self-Affirmation for Hereditary Breast and Ovarian Cancer Genetic Counseling Completed NCT03225170
23 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
24 Attitudes About Childbearing And Fertility In Women Seeking Genetic Testing For Inherited Breast And Ovarian Cancer Syndromes (HBOC) Completed NCT00829959
25 A Cluster Randomized Controlled Trial Comparing Interventions to Enhance Utilization of Genetics Services Among Breast Cancer Patients Completed NCT01789684
26 Risk-Reducing Surgeries of Salpingo-oophorectomy With/Without Hysterectomy for Carriers With Mutation Genes of Hereditary Ovarian Cancer Recruiting NCT03294343
27 Testing an Intelligent Tutoring System Intervention to Enhance Genetic Risk Assessment in Underserved Blacks and Latinas at Risk of Hereditary Breast Cancer Recruiting NCT03511690
28 Reporting Adult-Onset Genomic Results to Pediatric Biobank Participants and Parents Recruiting NCT03832985 Early Phase 1
29 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
30 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
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 Multifactorial Risk Assessment for Breast & Ovarian Cancer Risk Detection Recruiting NCT04668521
33 Cascade Testing in Families With Newly Diagnosed Hereditary Breast and Ovarian Cancer Syndrome Recruiting NCT04009148
34 Approaches to Identify and Care for Individuals With Inherited Cancer Syndromes Recruiting NCT04494945
35 Investigation of Tumour Spectrum, Penetrance and Clinical Utility of Germline Mutations in New Breast and Ovarian Cancer Susceptibility Genes. Recruiting NCT03246841
36 Cascade Genetic Testing for Hereditary Breast/Ovarian Cancer and Lynch Syndrome in Switzerland Recruiting NCT03124212
37 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
38 The DIALOGUE Study: Using Digital Health to Improve Care for Families With Predisposition to Hereditary Cancer Recruiting NCT04214210
39 Peer Support For Young Adult Women With High Breast Cancer Risk Recruiting NCT04248257
40 Impact of a Psychoeducational Intervention on Expectations and Coping in Young Women (18-40 Years) Exposed to a High Familial Breast/Ovarian Cancer Risk Active, not recruiting NCT02705924
41 Radical Fimbriectomy for Young BRCA Mutation Carriers at Risk of Pelvic Serous Carcinoma Active, not recruiting NCT01608074
42 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
43 Comparative Effectiveness of Interventions to Increase Guideline-based Genetic Counseling in Ethnically and Geographically Diverse Cancer Survivors Active, not recruiting NCT03326713
44 Expanded Access Protocol Using HBOC-201 to Treat Patients With Life Threatening Anemia, for Whom Blood is Not an Option Available NCT02684474
45 An Expanded IND Access Investigation of HBOC-201 Infusion in Patients With Severe Acute Anemia Who Are Unable to Receive Red Blood Cell Transfusion Available NCT03633604
46 Expanded Access Protocol Using HBOC-201 Available NCT02934282 HBOC-201
47 A Randomized Controlled Trial to Enhance the Use of Genetic Counseling and Testing in Latinas Enrolling by invitation NCT04544501
48 Direct Information to At-risk Relatives - a Randomized Controlled Multicentre Trial of Healthcare-assisted Versus Family-mediated Disclosure of Hereditary Cancer Risk Information in High-risk Families in Sweden Enrolling by invitation NCT04197856
49 Expanded Access Protocol for the Treatment Use of HBOC-201 Enrolling by invitation NCT01881503
50 A Comparative Effectiveness Study of Cancer Risk Management for Women at Elevated Genetic Risk of Ovarian Cancer Not yet recruiting NCT01445275

Search NIH Clinical Center for Hereditary Breast Ovarian Cancer Syndrome

Cochrane evidence based reviews: hereditary breast and ovarian cancer syndrome

Sources

Genetic Tests for Hereditary Breast Ovarian Cancer Syndrome

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Genetic tests related to Hereditary Breast Ovarian Cancer Syndrome:

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

Anatomical Context for Hereditary Breast Ovarian Cancer Syndrome

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

40
Breast, Prostate, Ovary, Pancreas, Brain, Lung, Colon
Sources

Publications for Hereditary Breast Ovarian Cancer Syndrome

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Articles related to Hereditary Breast Ovarian Cancer Syndrome:

(show top 50) (show all 2105)
# Title Authors PMID Year
1
BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers. 6 25
26586665 2016
2
Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. 25 6
25452441 2015
3
Breast-cancer risk in families with mutations in PALB2. 6 25
25099575 2014
4
Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE. 6 25
23628597 2013
5
Clinical significance of large rearrangements in BRCA1 and BRCA2. 25 6
22544547 2012
6
BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk. 6 25
22889855 2012
7
BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: a report from the Australian Ovarian Cancer Study Group. 6 25
22711857 2012
8
Germline BRCA1 mutations increase prostate cancer risk. 25 6
22516946 2012
9
Prevalence of BRCA1/2 mutations in sporadic breast/ovarian cancer patients and identification of a novel de novo BRCA1 mutation in a patient diagnosed with late onset breast and ovarian cancer: implications for genetic testing. 25 6
21553119 2012
10
BRCA2 mutations and triple-negative breast cancer. 25 6
22666503 2012
11
Characteristics of triple-negative breast cancer in patients with a BRCA1 mutation: results from a population-based study of young women. 25 6
22010008 2011
12
BRCA2 is a moderate penetrance gene contributing to young-onset prostate cancer: implications for genetic testing in prostate cancer patients. 25 6
21952622 2011
13
A novel de novo BRCA1 mutation in a Chinese woman with early onset breast cancer. 6 25
21404118 2011
14
Mutations in BRCA2 and PALB2 in male breast cancer cases from the United States. 6 25
20927582 2011
15
Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer. 6 25
21285249 2011
16
Large BRCA1 and BRCA2 genomic rearrangements in Malaysian high risk breast-ovarian cancer families. 6 25
20617377 2010
17
Risk of breast cancer in male BRCA2 carriers. 6 25
20587410 2010
18
Case report: de novo BRCA2 gene mutation in a 35-year-old woman with breast cancer. 25 6
19796187 2009
19
Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. 6 25
19264984 2009
20
The relative contribution of point mutations and genomic rearrangements in BRCA1 and BRCA2 in high-risk breast cancer families. 6 25
18703817 2008
21
Novel de novo BRCA2 mutation in a patient with a family history of breast cancer. 6 25
18597679 2008
22
Breast cancer risk among male BRCA1 and BRCA2 mutation carriers. 6 25
18042939 2007
23
Founder mutations in BRCA1 and BRCA2 genes. 25 6
17591843 2007
24
Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada. 25 6
17148771 2006
25
Cancer risks in BRCA2 families: estimates for sites other than breast and ovary. 6 25
16141007 2005
26
Cancer variation associated with the position of the mutation in the BRCA2 gene. 25 6
15131399 2004
27
Ovarian cancer risk in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations. 25 6
12473589 2002
28
Biallelic inactivation of BRCA2 in Fanconi anemia. 6 25
12065746 2002
29
Pretest prediction of BRCA1 or BRCA2 mutation by risk counselors and the computer model BRCAPRO. 6 25
12048272 2002
30
Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. 6 25
11896095 2002
31
Tamoxifen and breast cancer incidence among women with inherited mutations in BRCA1 and BRCA2: National Surgical Adjuvant Breast and Bowel Project (NSABP-P1) Breast Cancer Prevention Trial. 25 6
11710890 2001
32
The lifetime risks of breast cancer in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations. 25 6
11352856 2001
33
Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Anglian Breast Cancer Study Group. 25 6
11044354 2000
34
Cancer risks in BRCA2 mutation carriers. 25 6
10433620 1999
35
A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. 25 6
7545954 1994
36
Clinical Validity of Next-Generation Sequencing Multi-Gene Panel Testing for Detecting Pathogenic Variants in Patients With Hereditary Breast-Ovarian Cancer Syndrome. 6 61
31650731 2020
37
Trans-activation-based risk assessment of BRCA1 BRCT variants with unknown clinical significance. 6 61
30458859 2018
38
Comprehensive Analysis of Germline Variants in Mexican Patients with Hereditary Breast and Ovarian Cancer Susceptibility. 6 61
30262796 2018
39
Mutational analysis of RAD51C and RAD51D genes in hereditary breast and ovarian cancer families from Murcia (southeastern Spain). 6 61
29409816 2018
40
A multi-gene panel study in hereditary breast and ovarian cancer in Colombia. 61 6
28528518 2018
41
Simultaneous detection of genetic and copy number alterations in BRCA1/2 genes. 61 6
29383094 2017
42
Identification of twenty-nine novel germline unclassified variants of BRCA1 and BRCA2 genes in 1400 Italian individuals. 61 6
29020660 2017
43
Characterization of a new BRCA1 rearrangement in an Italian woman with hereditary breast and ovarian cancer syndrome. 6 61
28488140 2017
44
A case series of three Sri Lankan families with hereditary breast and ovarian cancer syndrome due to pathogenic germline mutations in the BRCA1 gene 6 61
28390335 2017
45
BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population? 61 6
29161300 2017
46
Eligibility Criteria and Genetic Testing Results from a High-Risk Cohort for Hereditary Breast and Ovarian Cancer Syndrome in Southeastern Ontario. 6 61
26941049 2016
47
Breast cancer in high-risk Afrikaner families: Is BRCA founder mutation testing sufficient? 6 61
26915939 2016
48
Investigating the effect of 28 BRCA1 and BRCA2 mutations on their related transcribed mRNA. 61 6
26780556 2016
49
BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study. 61 6
26026974 2015
50
Deleterious BRCA1/2 mutations in an urban population of Black women. 61 6
26250392 2015
Sources

Variations for Hereditary Breast Ovarian Cancer Syndrome

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ClinVar genetic disease variations for Hereditary Breast Ovarian Cancer Syndrome:

6 (show top 50) (show all 27126)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RAD51C NM_058216.3(RAD51C):c.904+5G>T SNV Likely pathogenic, risk factor 142762 rs587782702 GRCh37: 17:56798178-56798178
GRCh38: 17:58720817-58720817
2 BRCA2 NM_000059.3(BRCA2):c.3263dup (p.Gln1089fs) Duplication Pathogenic 266743 rs80359379 GRCh37: 13:32911751-32911752
GRCh38: 13:32337614-32337615
3 BRCA2 NM_000059.3(BRCA2):c.247G>T (p.Glu83Ter) SNV Pathogenic 266701 rs886040428 GRCh37: 13:32893393-32893393
GRCh38: 13:32319256-32319256
4 BRCA2 NM_000059.3(BRCA2):c.6067_6076del (p.Asp2023fs) Deletion Pathogenic 266919 rs886040632 GRCh37: 13:32914556-32914565
GRCh38: 13:32340419-32340428
5 BRCA2 NM_000059.3(BRCA2):c.568_575del (p.Pro190fs) Deletion Pathogenic 266890 rs886040605 GRCh37: 13:32900685-32900692
GRCh38: 13:32326548-32326555
6 BRCA2 NM_000059.3(BRCA2):c.4146_4149del (p.Glu1382fs) Deletion Pathogenic 266793 rs886040513 GRCh37: 13:32912638-32912641
GRCh38: 13:32338501-32338504
7 BRCA1 NM_007294.4(BRCA1):c.4408G>T (p.Glu1470Ter) SNV Pathogenic 266475 rs886040230 GRCh37: 17:41228581-41228581
GRCh38: 17:43076564-43076564
8 BRCA2 NM_000059.3(BRCA2):c.5154_5158del (p.Asn1719fs) Deletion Pathogenic 266853 rs886040570 GRCh37: 13:32913646-32913650
GRCh38: 13:32339509-32339513
9 BRCA1 NM_007294.4(BRCA1):c.1529C>A (p.Ser510Ter) SNV Pathogenic 266173 rs80357427 GRCh37: 17:41246019-41246019
GRCh38: 17:43094002-43094002
10 BRCA1 NM_007294.4(BRCA1):c.5044_5048delinsT (p.Thr1681_Glu1682insTer) Indel Pathogenic 266519 rs886040266 GRCh37: 17:41219651-41219655
GRCh38: 17:43067634-43067638
11 BRCA1 NM_007294.4(BRCA1):c.4107_4110dup (p.Gly1371fs) Duplication Pathogenic 55104 rs397509139 GRCh37: 17:41243035-41243036
GRCh38: 17:43091018-43091019
12 BRCA1 NM_007294.4(BRCA1):c.1505T>G (p.Leu502Ter) SNV Pathogenic 266172 rs886039957 GRCh37: 17:41246043-41246043
GRCh38: 17:43094026-43094026
13 BRCA2 NM_000059.3(BRCA2):c.6049A>T (p.Lys2017Ter) SNV Pathogenic 266917 rs886040630 GRCh37: 13:32914541-32914541
GRCh38: 13:32340404-32340404
14 BRCA2 NM_000059.3(BRCA2):c.3492dup (p.His1165fs) Duplication Pathogenic 266753 rs886040477 GRCh37: 13:32911982-32911983
GRCh38: 13:32337845-32337846
15 BRCA2 NM_000059.3(BRCA2):c.4960dup (p.Cys1654fs) Duplication Pathogenic 266840 rs886040556 GRCh37: 13:32913450-32913451
GRCh38: 13:32339313-32339314
16 BRCA2 NM_000059.3(BRCA2):c.7309del (p.Ile2437fs) Deletion Pathogenic 267001 rs886040699 GRCh37: 13:32929299-32929299
GRCh38: 13:32355162-32355162
17 BRCA1 NM_007294.4(BRCA1):c.335del (p.Asn112fs) Deletion Pathogenic 266359 rs886040119 GRCh37: 17:41256245-41256245
GRCh38: 17:43104228-43104228
18 BRCA1 NM_007294.4(BRCA1):c.5209dup (p.Arg1737fs) Duplication Pathogenic 266533 rs886040278 GRCh37: 17:41209136-41209137
GRCh38: 17:43057119-43057120
19 BRCA1 NM_007294.4(BRCA1):c.3262_3277del (p.Val1088fs) Deletion Pathogenic 266348 rs886040108 GRCh37: 17:41244271-41244286
GRCh38: 17:43092254-43092269
20 BRCA1 NM_007294.4(BRCA1):c.2890G>T (p.Gly964Ter) SNV Pathogenic 266316 rs879254027 GRCh37: 17:41244658-41244658
GRCh38: 17:43092641-43092641
21 BRCA1 NM_007294.4(BRCA1):c.2808_2811del (p.Lys937fs) Deletion Pathogenic 54685 rs397509013 GRCh37: 17:41244737-41244740
GRCh38: 17:43092720-43092723
22 BRCA2 NM_000059.4(BRCA2):c.743del Deletion Pathogenic 267011 rs886040708 GRCh37: 13:32905117-32905117
GRCh38: 13:32330980-32330980
23 BRCA2 NM_000059.3(BRCA2):c.127_128del (p.Asn43fs) Deletion Pathogenic 266622 rs886040354 GRCh37: 13:32893273-32893274
GRCh38: 13:32319136-32319137
24 BRCA2 NM_000059.3(BRCA2):c.271_272del (p.Tyr91fs) Deletion Pathogenic 266715 rs886040441 GRCh37: 13:32893417-32893418
GRCh38: 13:32319280-32319281
25 BRCA2 NM_000059.3(BRCA2):c.1888del (p.Thr630fs) Deletion Pathogenic 266666 rs886040394 GRCh37: 13:32907503-32907503
GRCh38: 13:32333366-32333366
26 BRCA1 NM_007294.3(BRCA1):c.5277+833_5277+1671delins141 Indel Pathogenic 267588 GRCh37: 17:41207398-41208236
GRCh38: 17:43055381-43056219
27 overlap with 3 genes NM_007294.3(BRCA1):c.-7620_80+468delins8 Indel Pathogenic 267619 GRCh37: 17:41275566-41284888
GRCh38: 17:43123549-43132871
28 BRCA1 NM_007294.3(BRCA1):c.4186-?_4484+?del Deletion Pathogenic 267527 GRCh37:
GRCh38:
29 BRCA1 NM_007294.3:c.3049_3050ins7 Insertion Pathogenic 267519 GRCh37: 17:41244498-41244499
GRCh38: 17:43092481-43092482
30 BRCA2 NM_000059.3(BRCA2):c.7008-?_7805+?del Deletion Pathogenic 267671 GRCh37:
GRCh38:
31 BRCA1 NM_007294.3(BRCA1):c.81-?_4185+?del Deletion Pathogenic 267622 GRCh37:
GRCh38:
32 BRCA1 NM_007294.3(BRCA1):c.5333-2A>C SNV Pathogenic 55535 rs397509264 GRCh37: 17:41201213-41201213
GRCh38: 17:43049196-43049196
33 BRCA1 NM_007294.3(BRCA1):c.4485-?_5074+?del Deletion Pathogenic 267550 GRCh37:
GRCh38:
34 BRCA1 NM_007294.3(BRCA1):c.5194-5858_5277+2206del Deletion Pathogenic 267587 GRCh37: 17:41206863-41215010
GRCh38: 17:43054846-43062993
35 BRCA2 NM_000059.3(BRCA2):c.7007+2T>A SNV Pathogenic 267669 rs886040937 GRCh37: 13:32921035-32921035
GRCh38: 13:32346898-32346898
36 BRCA1 NM_007294.3(BRCA1):c.442-7T>A SNV Pathogenic 267545 rs886040909 GRCh37: 17:41251904-41251904
GRCh38: 17:43099887-43099887
37 BRCA1 NM_007294.3(BRCA1):c.671-1G>A SNV Pathogenic 55662 rs80358020 GRCh37: 17:41246878-41246878
GRCh38: 17:43094861-43094861
38 BRCA2 NM_000059.3(BRCA2):c.516+1G>C SNV Pathogenic 51787 rs397507762 GRCh37: 13:32900420-32900420
GRCh38: 13:32326283-32326283
39 BRCA1 NM_007294.4(BRCA1):c.5077_5080delinsTTGATTCTGC (p.Ala1693_Glu1694delinsLeuIleLeuGln) Indel Pathogenic 267576 rs397509224 GRCh37: 17:41215963-41215966
GRCh38: 17:43063946-43063949
40 BRCA1 NM_007294.3(BRCA1):c.213-2A>G SNV Pathogenic 224426 rs397508940 GRCh37: 17:41256975-41256975
GRCh38: 17:43104958-43104958
41 BRCA1 NM_007294.3(BRCA1):c.4676-1420_4986+900del Deletion Pathogenic 267559 GRCh37: 17:41222045-41224675
GRCh38: 17:43070028-43072658
42 BRCA2 NM_000059.3(BRCA2):c.67+1del Deletion Pathogenic 267656 rs886040931 GRCh37: 13:32890664-32890664
GRCh38: 13:32316527-32316527
43 BRCA1 NM_007294.3(BRCA1):c.213-1G>T SNV Pathogenic 267728 rs80358146 GRCh37: 17:41256974-41256974
GRCh38: 17:43104957-43104957
44 BRCA1 NM_007294.3(BRCA1):c.5333-198_5387del Deletion Pathogenic 267599 rs1555575109 GRCh37: 17:41201157-41201409
GRCh38: 17:43049140-43049392
45 BRCA1 NM_007294.3(BRCA1):c.671-?_4185+?del Deletion Pathogenic 267612 GRCh37:
GRCh38:
46 BRCA2 NM_000059.3(BRCA2):c.7805G>C (p.Arg2602Thr) SNV Pathogenic 52415 rs397507938 GRCh37: 13:32932066-32932066
GRCh38: 13:32357929-32357929
47 BRCA1 NM_007294.3(BRCA1):c.5074+1G>C SNV Pathogenic 267570 rs80358053 GRCh37: 17:41219624-41219624
GRCh38: 17:43067607-43067607
48 BRCA1 NM_007294.3(BRCA1):c.213-15A>G SNV Pathogenic 267514 rs886040903 GRCh37: 17:41256988-41256988
GRCh38: 17:43104971-43104971
49 BRCA2 NM_000059.3(BRCA2):c.9257-2_9261dup Duplication Pathogenic 267721 rs886040953 GRCh37: 13:32968822-32968823
GRCh38: 13:32394685-32394686
50 BRCA1 NM_007294.3(BRCA1):c.134+3_134+4insT Insertion Pathogenic 267727 rs886041002 GRCh37: 17:41267739-41267740
GRCh38: 17:43115722-43115723
Sources

Expression for Hereditary Breast Ovarian Cancer Syndrome

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

Pathways for Hereditary Breast Ovarian Cancer Syndrome

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

(show all 34)
# Super pathways Score Top Affiliating Genes
1
Gene Expression 65
Show member pathways
 13.78 TP53 RAD51D PMS2 PLK2 NBN DROSHA
2
Cell Cycle, Mitotic 65
Show member pathways
 13.4 TP53 RAD51C NBN CHEK2 BRIP1 BRCA2
3
DNA Double-Strand Break Repair 65
Show member pathways
 13.1 TP53 RAD51D RAD51C PMS2 PALB2 NBN
4
Regulation of TP53 Activity 65
Show member pathways
 12.89 TP53 RAD51D PMS2 PLK2 NBN CHEK2
5
Pathways in cancer 36
12.79 TP53 PTCH1 CTNNA2 CTNNA1 BRCA2
6
Gastric cancer 36
Show member pathways
 12.72 TP53 CTNNA2 CTNNA1 BRCA2 BRCA1
7
Chks in Checkpoint Regulation 63
Show member pathways
 12.71 TP53 NBN CHEK2 BRCA2 BRCA1 BARD1
8
PKC-Theta Pathway 63
Show member pathways
 12.69 TP53 NBN CHEK2 BRIP1 BRCA2 BRCA1
9
Cell Cycle Checkpoints 65
Show member pathways
 12.65 TP53 NBN CHEK2 BRIP1 BRCA1 BARD1
10
DNA Damage 4
12.51 TP53 PLK2 NBN CHEK2 BRIP1 BRCA2
11
Meiosis 65
Show member pathways
 12.48 RAD51C NBN BRCA2 BRCA1 ATM
12
DNA Double Strand Break Response 65
Show member pathways
 12.38 TP53 NBN CHEK2 BRCA1 BARD1 ATM
13
DNA Damage Response 1
Show member pathways
 12.37 TP53 NBN CHEK2 BRCA1 ATM
14
p53 Signaling 63
Show member pathways
 12.21 TP53 CHEK2 BRCA1 ATM
15
Integrated Breast Cancer Pathway 1
12.17 TP53 CHEK2 BRCA2 BRCA1 BARD1 ATM
16
Cellular senescence (KEGG) 36
12.12 TP53 NBN CHEK2 ATM
17
Homologous DNA Pairing and Strand Exchange 65
Show member pathways
 11.91 RAD51D RAD51C PALB2 NBN BRIP1 BRCA2
18
Fanconi anemia pathway 65 36
11.9 RAD51C PMS2 PALB2 BRIP1 BRCA2 BRCA1
19
ATM Pathway 63
Show member pathways
 11.86 TP53 NBN CHEK2 BRCA1 ATM
20
Regulation of TP53 Expression and Degradation 65
Show member pathways
 11.7 TP53 CHEK2 ATM
21
Platinum drug resistance 36
11.69 TP53 BRCA1 ATM
22
Pathways Affected in Adenoid Cystic Carcinoma 1
11.69 TP53 CHEK2 BRCA1 ATM
23
BRCA1 Pathway 63
Show member pathways
 11.62 TP53 NBN CHEK2 BRCA2 BRCA1 BARD1
24
p53 pathway 1
11.59 TP53 CHEK2 ATM
25
Integrated Cancer Pathway 1
11.54 TP53 CHEK2 BRCA1 BARD1 ATM
26
ATM Signaling Network in Development and Disease 1
11.47 NBN CHEK2 ATM
27
Cell cycle Role of 14-3-3 proteins in cell cycle regulation 23
Show member pathways
 11.46 TP53 CHEK2 ATM
28
Resolution of D-loop Structures through Holliday Junction Intermediates 65
Show member pathways
 11.45 RAD51D RAD51C PALB2 NBN BRIP1 BRCA2
29
DNA damage_ATM/ATR regulation of G1/S checkpoint 23
11.38 TP53 NBN CHEK2 BRCA1 BARD1 ATM
30
GADD45 Pathway 63
11.29 TP53 BRCA1 ATM
31
BARD1 signaling events 1
11.26 TP53 NBN BRCA1 BARD1 ATM
32
DNA Damage Induced 14-3-3Sigma Signaling 63
11.05 TP53 BRCA1 ATM
33
DDX1 as a regulatory component of the Drosha microprocessor 1
Show member pathways
 10.96 NBN DROSHA ATM
34
PLK3 signaling events 1
10.34 TP53 CHEK2
Sources

GO Terms for Hereditary Breast Ovarian Cancer Syndrome

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.16 TP53 RAD51D RAD51C PTCH1 PMS2 PLK2
2 cytoskeleton GO:0005856 9.98 TP53 RAD51D PLK2 LCP1 CTNNA2 CTNNA1
3 nucleoplasm GO:0005654 9.97 TP53 RAD51D RAD51C PMS2 PALB2 NBN
4 chromosome GO:0005694 9.85 RAD51D RAD51C NBN BRCA2 BRCA1
5 PML body GO:0016605 9.67 TP53 NBN CHEK2
6 lateral element GO:0000800 9.48 BRCA2 BRCA1
7 BRCA1-A complex GO:0070531 9.4 BRCA1 BARD1
8 Rad51B-Rad51C-Rad51D-XRCC2 complex GO:0033063 9.37 RAD51D RAD51C
9 chromosome, telomeric region GO:0000781 9.35 RAD51D NBN CHEK2 BRCA2 ATM
10 BRCA1-BARD1 complex GO:0031436 9.32 BRCA1 BARD1
11 replication fork GO:0005657 8.92 TP53 RAD51D RAD51C NBN

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

(show all 40)
# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 10.11 TP53 NBN CHEK2 BRCA2 BRCA1 ATM
2 negative regulation of apoptotic process GO:0043066 10.07 TP53 PLK2 PALB2 CTNNA1 BARD1
3 in utero embryonic development GO:0001701 9.96 TP53 PTCH1 PALB2 NBN
4 regulation of cell proliferation GO:0042127 9.96 TP53 PTCH1 CTNNA1 BRCA1
5 DNA replication GO:0006260 9.92 NBN BRIP1 BRCA1 BARD1 ATM
6 cell cycle arrest GO:0007050 9.9 TP53 NBN BARD1 ATM
7 DNA recombination GO:0006310 9.85 RAD51D RAD51C PALB2 BRCA2 BRCA1
8 multicellular organism growth GO:0035264 9.84 TP53 PALB2 ATM
9 double-strand break repair via nonhomologous end joining GO:0006303 9.84 NBN BRCA1 BARD1 ATM
10 telomere maintenance GO:0000723 9.82 RAD51D NBN ATM
11 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.81 TP53 PLK2 CHEK2 ATM
12 double-strand break repair GO:0006302 9.8 TP53 NBN CHEK2 BRIP1 BRCA2 BRCA1
13 regulation of signal transduction by p53 class mediator GO:1901796 9.8 TP53 NBN CHEK2 BRIP1 BRCA1 BARD1
14 somitogenesis GO:0001756 9.79 TP53 PALB2 ATM
15 nucleotide-excision repair GO:0006289 9.79 TP53 BRIP1 BRCA2
16 embryonic organ development GO:0048568 9.78 TP53 PTCH1 PALB2
17 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.78 CHEK2 BRCA2 BRCA1 ATM
18 reciprocal meiotic recombination GO:0007131 9.77 RAD51D RAD51C ATM
19 cellular response to gamma radiation GO:0071480 9.76 TP53 CHEK2 ATM
20 chromosome organization GO:0051276 9.75 TP53 RAD51D BRCA2
21 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.74 TP53 CHEK2 BRCA2
22 response to gamma radiation GO:0010332 9.73 TP53 CHEK2 BRCA2
23 DNA damage checkpoint GO:0000077 9.73 NBN CHEK2 BRIP1 ATM
24 replicative senescence GO:0090399 9.72 TP53 CHEK2 ATM
25 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.71 TP53 CHEK2 BRCA2 BRCA1
26 double-strand break repair via homologous recombination GO:0000724 9.7 RAD51D RAD51C PALB2 NBN BRCA2 BRCA1
27 DNA repair GO:0006281 9.7 RAD51D RAD51C PMS2 PALB2 NBN CHEK2
28 DNA damage response, signal transduction by p53 class mediator GO:0030330 9.68 TP53 NBN
29 inner cell mass cell proliferation GO:0001833 9.68 PALB2 BRCA2
30 epithelial cell-cell adhesion GO:0090136 9.67 CTNNA2 CTNNA1
31 signal transduction in response to DNA damage GO:0042770 9.67 NBN CHEK2
32 telomere maintenance via recombination GO:0000722 9.67 RAD51D RAD51C BRCA2
33 DNA double-strand break processing GO:0000729 9.67 NBN BRCA1 BARD1 ATM
34 protein K6-linked ubiquitination GO:0085020 9.66 BRCA1 BARD1
35 DNA damage induced protein phosphorylation GO:0006975 9.65 CHEK2 ATM
36 negative regulation of neuroblast proliferation GO:0007406 9.65 TP53 CTNNA1
37 negative regulation of telomere capping GO:1904354 9.63 NBN ATM
38 cellular response to indole-3-methanol GO:0071681 9.63 CTNNA1 BRCA1
39 chordate embryonic development GO:0043009 9.62 BRCA2 BRCA1
40 cellular response to DNA damage stimulus GO:0006974 9.4 TP53 RAD51D RAD51C PMS2 PALB2 NBN

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.13 TP53 RAD51D RAD51C PTCH1 PMS2 PLK2
2 DNA binding GO:0003677 9.61 TP53 RAD51D RAD51C PMS2 PALB2 BRIP1
3 single-stranded DNA binding GO:0003697 9.54 RAD51D PMS2 BRCA2
4 protein N-terminus binding GO:0047485 9.5 TP53 NBN ATM
5 four-way junction DNA binding GO:0000400 9.26 RAD51D RAD51C
6 ATP binding GO:0005524 9.23 TP53 RAD51D RAD51C PMS2 PLK2 CHEK2
Sources

Sources for Hereditary Breast Ovarian Cancer Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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