MCID: HRD200
MIFTS: 70

Hereditary Breast Ovarian Cancer Syndrome

Categories: Cancer diseases, Genetic diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Hereditary Breast Ovarian Cancer Syndrome

MalaCards integrated aliases for Hereditary Breast Ovarian Cancer Syndrome:

Name: Hereditary Breast Ovarian Cancer Syndrome 11 28 5 14
Hereditary Breast and Ovarian Cancer Syndrome 11 58 43 71 33
Brca1- and Brca2-Associated Hereditary Breast and Ovarian Cancer 11 24
Breast and/or Ovarian Cancer 28 5
Hereditary Breast and Ovarian Cancer 11
Breast and Ovarian Cancer Syndrome 11
Brca1- Brca2-Associated Hboc 24
Hboc Syndrome 11

Characteristics:


Inheritance:

Hereditary Breast and Ovarian Cancer Syndrome: Autosomal dominant 58

Age Of Onset:

Hereditary Breast and Ovarian Cancer Syndrome: All ages 58

GeneReviews:

24
Penetrance The penetrance of breast, ovarian, and other cancers associated with pathogenic variants in brca1 and brca2 is less than 100% (see table 2).

Classifications:

Orphanet: 58  
Rare gynaecological and obstetric diseases


External Ids:

Disease Ontology 11 DOID:5683
MeSH 43 D061325
NCIt 49 C8493
SNOMED-CT 68 718220008
ICD10 via Orphanet 32 C50 C56
UMLS via Orphanet 72 C0677776
Orphanet 58 ORPHA145
ICD11 33 1258896144
UMLS 71 C0677776

Summaries for Hereditary Breast Ovarian Cancer Syndrome

Orphanet: 58 Breast cancer (BC) is the most common cancer in women, accounting for 25% of all new cases of cancer. Most BC cases are sporadic, while 5-10% are estimated to be due to an inherited predisposition.

MalaCards based summary: Hereditary Breast Ovarian Cancer Syndrome, also known as hereditary breast and ovarian cancer syndrome, is related to hereditary site-specific ovarian cancer syndrome and ovarian cancer. 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 (Transcription) and Disease. The drugs Cyclophosphamide and Doxorubicin have been mentioned in the context of this disorder. Affiliated tissues include breast, ovary and prostate, and related phenotypes are ovarian neoplasm and primary peritoneal carcinoma

Disease Ontology: 11 A syndrome characterized by the higher than normal tendency associated with BRCA1 and BRCA2 to develop breast and ovarian cancers in genetically related families.

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 268)
# Related Disease Score Top Affiliating Genes
1 hereditary site-specific ovarian cancer syndrome 32.9 RAD51L3-RFFL RAD51D RAD51C BRCA2 BRCA1
2 ovarian cancer 32.2 TP53 RAD51L3-RFFL RAD51D RAD51C PTEN PMS2
3 ovarian cancer 1 32.0 RAD51C PALB2 NBN BRIP1 BRCA2 BRCA1
4 lynch syndrome 31.8 XRCC2 TP53 RAD51D RAD51C PTEN PMS2
5 fanconi anemia, complementation group a 31.8 XRCC2 TP53 RAD51D RAD51C RAD50 PTEN
6 breast-ovarian cancer, familial 1 31.8 RAD51C PALB2 NBN BRIP1 BRCA2 BRCA1
7 lynch syndrome 1 31.7 RAD51L3-RFFL RAD51D PMS2 PALB2 MSH6 MSH2
8 pancreatic cancer 31.7 TP53 PTEN PALB2 NBN MSH6 MSH2
9 serous cystadenocarcinoma 31.6 TP53 RAD51D RAD51C PTEN PMS2 MSH6
10 sporadic breast cancer 31.6 TP53 RAD51C PTEN PALB2 CHEK2 BRIP1
11 xeroderma pigmentosum, variant type 31.4 TP53 NBN MSH6 MSH2 MLH1 CHEK2
12 breast cancer 31.4 XRCC2 TP53 RAD51L3-RFFL RAD51D RAD51C RAD50
13 inherited cancer-predisposing syndrome 31.4 XRCC2 TP53 RAD51L3-RFFL RAD51D RAD51C RAD50
14 bap1 tumor predisposition syndrome 31.4 XRCC2 TP53 RAD51L3-RFFL RAD51D RAD51C RAD50
15 bilateral breast cancer 31.4 TP53 RAD51D RAD51C PTEN PALB2 MLH1
16 breast-ovarian cancer, familial 2 31.3 BRCA2 BRCA1
17 hereditary breast cancer 31.3 XRCC2 PALB2 CHEK2 BRCA2 BRCA1
18 prostate cancer 31.3 TP53 RAD51D PTEN PMS2 NBN MSH6
19 cowden syndrome 31.3 TP53 RAD51D RAD51C PTEN PMS2 PALB2
20 diffuse gastric cancer 31.3 TP53 RAD51D RAD51C PTEN PMS2 PALB2
21 diffuse gastric and lobular breast cancer syndrome 31.3 TP53 RAD51D RAD51C PTEN PMS2 PALB2
22 fallopian tube carcinoma 31.3 TP53 RAD51D RAD51C PTEN PALB2 MSH6
23 li-fraumeni syndrome 31.2 TP53 RAD51D RAD51C PTEN PMS2 PALB2
24 colorectal cancer 31.2 TP53 RAD50 PTEN PMS2 PALB2 NBN
25 nijmegen breakage syndrome 31.2 TP53 RAD51C RAD50 NBN CHEK2 C11orf65
26 adenocarcinoma 31.2 TP53 PTEN MSH6 MSH2 MLH1 C11orf65
27 endometrial cancer 31.1 TP53 PTEN PMS2 MSH6 MSH2 MLH1
28 premature menopause 31.1 TP53 RAD51C PTEN NBN CHEK2 BRCA2
29 colonic benign neoplasm 31.1 TP53 PTEN PMS2 PALB2 MSH6 MSH2
30 ataxia-telangiectasia 31.1 TP53 RAD50 PTEN NBN CHEK2 C11orf65
31 neurofibromatosis, type i 31.1 TP53 PTEN PMS2 MSH6 MSH2 MLH1
32 oligodendroglioma 31.1 TP53 PTEN PMS2 MSH6 MSH2 MLH1
33 endometrial serous adenocarcinoma 31.1 TP53 PTEN BRCA1 ATM
34 neurofibromatosis 31.1 TP53 PTEN PMS2 MSH6 MSH2 MLH1
35 cystadenocarcinoma 31.0 TP53 PTEN BRCA2 BRCA1
36 familial adenomatous polyposis 31.0 TP53 PMS2 MSH6 MSH2 MLH1
37 ductal carcinoma in situ 31.0 TP53 PTEN BRCA2 BRCA1
38 ovary adenocarcinoma 31.0 TP53 PTEN MLH1 BRCA2 BRCA1
39 papillary serous adenocarcinoma 31.0 TP53 BRCA2 BRCA1
40 rectal benign neoplasm 31.0 TP53 PMS2 MSH6 MSH2 MLH1
41 ovarian cystadenocarcinoma 31.0 TP53 PTEN BRCA2 BRCA1
42 ovarian serous carcinoma 31.0 TP53 BRCA2 BRCA1
43 female breast cancer 31.0 TP53 MLH1 BRCA2 BRCA1
44 transitional cell carcinoma 31.0 TP53 PTEN MSH2 MLH1
45 fanconi anemia, complementation group d2 30.9 BRCA2 BRCA1 ATM
46 rectum cancer 30.9 TP53 MSH6 MSH2 MLH1
47 breast-ovarian cancer, familial 4 30.9 RAD51L3-RFFL RAD51D
48 peutz-jeghers syndrome 30.9 TP53 PTEN BRCA2
49 appendix adenocarcinoma 30.8 TP53 MSH6
50 lynch syndrome 4 30.7 PMS2 MLH1

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 30 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ovarian neoplasm 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100615
2 primary peritoneal carcinoma 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0030406
3 abnormal fallopian tube morphology 30 Hallmark (90%) HP:0011027
4 breast carcinoma 58 30 Frequent (33%) Frequent (79-30%)
HP:0003002
5 melanoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002861
6 neoplasm of the pancreas 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002894
7 prostate cancer 58 30 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:

25 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10.29 BARD1 BRCA1 BRCA2 MLH1 NBN PALB2
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.29 ATM BRCA1 BRCA2 BRIP1 MLH1 PALB2
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 10.29 ATM BARD1 BRCA1 BRCA2 CHEK2 MLH1
4 Decreased homologous recombination repair frequency GR00151-A-1 10.03 BARD1 BRCA1
5 Decreased homologous recombination repair frequency GR00151-A-2 10.03 BRCA1
6 Decreased homologous recombination repair frequency GR00236-A-1 10.03 BARD1 BRCA1 BRCA2 PALB2
7 Decreased homologous recombination repair frequency GR00236-A-2 10.03 BARD1 BRCA1 BRCA2 PALB2
8 Decreased homologous recombination repair frequency GR00236-A-3 10.03 BARD1 BRCA1 BRCA2 PALB2
9 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 9.77 BARD1 BRCA1 BRCA2 MSH2 RAD51D
10 Synthetic lethal with cisplatin GR00101-A-1 9.62 BARD1 BRCA1 BRCA2 BRIP1
11 Decreased viability with cisplatin GR00101-A-4 9.56 BARD1 BRCA1 BRCA2 BRIP1
12 Decreased viability after ionizing radiation GR00232-A-2 9.13 ATM BRCA1 BRCA2

MGI Mouse Phenotypes related to Hereditary Breast Ovarian Cancer Syndrome:

45 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 10.44 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
2 homeostasis/metabolism MP:0005376 10.4 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
3 nervous system MP:0003631 10.37 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
4 growth/size/body region MP:0005378 10.32 ATM BARD1 BRCA1 BRCA2 BRIP1 MLH1
5 cellular MP:0005384 10.3 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
6 endocrine/exocrine gland MP:0005379 10.27 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
7 embryo MP:0005380 10.21 ATM BARD1 BRCA1 BRCA2 NBN PALB2
8 limbs/digits/tail MP:0005371 10.11 BRCA1 BRCA2 PALB2 PTEN RAD50 RAD51D
9 immune system MP:0005387 10.1 ATM BRCA1 BRCA2 CHEK2 MLH1 MSH2
10 reproductive system MP:0005389 10.07 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
11 digestive/alimentary MP:0005381 10.01 BRCA1 BRCA2 MLH1 MSH2 PMS2 PTEN
12 hematopoietic system MP:0005397 9.97 ATM BRCA1 BRCA2 BRIP1 CHEK2 MLH1
13 mortality/aging MP:0010768 9.89 ATM BARD1 BRCA1 BRCA2 CHEK2 MLH1
14 integument MP:0010771 9.36 ATM BRCA1 BRCA2 MLH1 MSH2 MSH6

Drugs & Therapeutics for Hereditary Breast Ovarian Cancer Syndrome

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

(show top 50) (show all 51)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
2
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
3
Zoledronic acid Approved Phase 2 118072-93-8 68740
4
Carboplatin Approved Phase 1, Phase 2 41575-94-4 10339178 38904
5
Durvalumab Approved, Investigational Phase 1, Phase 2 1428935-60-7
6
Olaparib Approved Phase 1, Phase 2 763113-22-0 23725625
7
Imidazole Experimental, Investigational Phase 2 288-32-4 795
8 Immunologic Factors Phase 2
9 Anti-Bacterial Agents Phase 2
10 Antirheumatic Agents Phase 2
11 Alkylating Agents Phase 2
12 Antineoplastic Agents, Alkylating Phase 2
13 Antibiotics, Antitubercular Phase 2
14 Liposomal doxorubicin Phase 2
15 Immunosuppressive Agents Phase 2
16 Poly(ADP-ribose) Polymerase Inhibitors Phase 1, Phase 2
17 Antineoplastic Agents, Immunological Phase 1, Phase 2
18
Levoleucovorin Approved, Experimental, Investigational Phase 1 68538-85-2, 58-05-9, 73951-54-9 149436 6006
19
Sargramostim Approved, Investigational Phase 1 123774-72-1
20
Paclitaxel Approved, Vet_approved Phase 1 33069-62-4 36314
21
Pancrelipase Approved, Investigational Phase 1 53608-75-6 8519
22
Folic acid Approved, Nutraceutical, Vet_approved Phase 1 59-30-3 6037
23
Molgramostim Investigational Phase 1 99283-10-0
24
Veliparib Investigational Phase 1 912444-00-9 11960529
25 Vitamins Phase 1
26 Folate Phase 1
27 Vaccines Phase 1
28 Vitamin B9 Phase 1
29 Vitamin B Complex Phase 1
30 Hematinics Phase 1
31 Albumin-Bound Paclitaxel Phase 1
32 Antimitotic Agents Phase 1
33 Tubulin Modulators Phase 1
34 Pancreatin Phase 1
35
Caffeine Approved 58-08-2 2519
36
Zinc cation Approved, Experimental, Investigational 7440-66-6, 23713-49-7 32051
37
Selenium Approved, Investigational, Vet_approved 7783-07-5, 7782-49-2 533
38
Lycopene Approved, Investigational 502-65-8 446925
39
Curcumin Approved, Investigational 458-37-7, 84765-67-3 969516
40
Ethanol Approved 64-17-5 702
41
Indole-3-carbinol Investigational 700-06-1 3712
42
Indole Experimental 120-72-9 798
43
Resveratrol Investigational 501-36-0 445154
44
Genistein Investigational 446-72-0 5280961
45 Hormones
46 Trace Elements
47 Micronutrients
48 Carotenoids
49 Phytoestrogens
50 Antioxidants

Interventional clinical trials:

(show all 50)
# 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 Neoadjuvant Carboplatin in Triple Negative Breast Cancer - A Prospective Phase II Study (NACATRINE Trial). Unknown status NCT02978495 Phase 2 Doxorubicin;Carboplatin;Paclitaxel;Cyclophosphamide
4 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
5 Pilot Randomized Controlled Trial of Inquiry Based Stress Reduction (IBSR) Program for BRCA1/2 Mutation Carriers Completed NCT01367639 Phase 2
6 Search Allelic Imbalance of Expression of BRCA Genes in Hereditary Risk of Breast and/or Ovarian Cancer Completed NCT01333748 Phase 2
7 A Modular Phase I, Open-Label, Multicentre Study to Assess the Safety, Tolerability, Pharmacokinetics and Preliminary Anti-tumour Activity of Ceralasertib in Combination With Cytotoxic Chemotherapy and/or DNA Damage Repair/Novel Anti-cancer Agents in Patients With Advanced Solid Malignancies. Recruiting NCT02264678 Phase 1, Phase 2 Administration of ceralasertib in combination with carboplatin;Administration of ceralasertib;Administration of ceralasertib in combination with olaparib;Administation of ceralasertib in combination with durvalumab
8 Phase Ib Trial of Two Folate Binding Protein (FBP) Peptide Vaccines (E39 and J65) in Breast and Ovarian Cancer Patients Completed NCT02019524 Phase 1
9 A Phase 1 Study of ABT-888 in Combination With Carboplatin and Paclitaxel in Advanced Solid Malignancies Completed NCT00535119 Phase 1 Carboplatin;Paclitaxel;Veliparib
10 Intraperitoneal Aerosolization of Albumin-stabilized Paclitaxel Nanoparticles for Stomach, Pancreas, Breast and Ovarian Cancer Completed NCT03304210 Phase 1 PIPAC with Abraxane
11 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
12 A Phase I Study With an Expansion Cohort of the PARP Inhibitor AZD2281 (KU-0059436) Combined With Carboplatin in Breast and Ovarian Cancer in BRCA1/2 Mutation Carriers (Familial Breast and Ovarian Cancer) and Sporadic Triple Negative Breast Cancer and Ovarian Cancer Completed NCT01445418 Phase 1 AZ2281 + Carboplatin
13 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
14 Evaluation of the Adhesion to the Network of Care of People at Genetic Risk of Cancer in Midi-Pyrénées (GENEPY) Unknown status NCT03979612
15 Tissue Expansion in Breast Reconstruction Without Drains: A Study Using a Tissue Expander That Collects Periprosthetic Fluid Completed NCT03784859
16 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
17 Strategies to Increase the Identification, Genetic Counseling Referral and Genetic Testing for Women at Risk for Hereditary Breast and/or Ovarian Cancer Completed NCT02786147
18 Attitudes About Childbearing And Fertility In Women Seeking Genetic Testing For Inherited Breast And Ovarian Cancer Syndromes (HBOC) Completed NCT00829959
19 Statewide Communication to Reach Diverse Low Income Women Completed NCT02956681
20 University of Southern California (USC) Norris Comprehensive Cancer Center and Stanford Cancer Institute Cancer Genetics Hereditary Cancer Panel Testing Completed NCT02324062
21 Genetic Risk: Whether, When, and How to Tell Adolescents Completed NCT03421327
22 Telemedicine vs. Face-to-Face Cancer Genetic Counseling in Rural Oncology Clinics Completed NCT00609505
23 Testing an Intelligent Tutoring System Intervention to Enhance Genetic Risk Assessment in Underserved Blacks and Latinas at Risk of Hereditary Breast Cancer Completed NCT03511690
24 Is it Feasible?: Self-Affirmation for Hereditary Breast and Ovarian Cancer Genetic Counseling Completed NCT03225170
25 A Randomized Controlled Trial to Enhance the Use of Genetic Counseling and Testing in Latinas Completed NCT04544501
26 Transcriptomes Breast, Ovarian and Leukocyte Hereditary Genes Predisposing to Breast and / or Ovarian Cancer Completed NCT02560818
27 Testing a Culturally Adapted Telephone Genetic Counseling Intervention to Enhance Genetic Risk Assessment in Underserved Latinas at Risk of Hereditary Breast and Ovarian Cancer Completed NCT03959267
28 Risk-Reducing Surgeries of Salpingo-oophorectomy With/Without Hysterectomy for Carriers With Mutation Genes of Hereditary Ovarian Cancer Recruiting NCT03294343
29 PROspective Evaluation of GErmline Mutations, Cancer Outcome and Tissue Biomarkers: A Registry for Patients With Triple Negative Breast Cancer and Germline Mutations Recruiting NCT02302742
30 Reporting Adult-Onset Genomic Results to Pediatric Biobank Participants and Parents Recruiting NCT03832985 Early Phase 1
31 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
32 Multifactorial Risk Assessment for Breast & Ovarian Cancer Risk Detection Recruiting NCT04668521
33 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
34 Cascade Genetic Testing for Hereditary Breast/Ovarian Cancer and Lynch Syndrome in Switzerland Recruiting NCT03124212
35 Cascade Testing in Families With Newly Diagnosed Hereditary Breast and Ovarian Cancer Syndrome Recruiting NCT04009148
36 Genetic Predisposition to Breast and Ovarian Cancer: Prospective Study of BRCAx Gene Mutation Recruiting NCT03667417
37 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
38 Investigation of Tumour Spectrum, Penetrance and Clinical Utility of Germline Mutations in New Breast and Ovarian Cancer Susceptibility Genes. Recruiting NCT03246841
39 Approaches to Identify and Care for Individuals With Inherited Cancer Syndromes Recruiting NCT04494945
40 Implementation of the Families Accelerating Cascade Testing Toolkit (FACTT) for Hereditary Breast and Ovarian Cancer and Lynch Syndrome Recruiting NCT04508764
41 Study of Quality of Life Post Preventive Salpingo-oophorectomy in Healthy BRCA1/2 and PALB2 Mutation Carriers Recruiting NCT05409222
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 WISP (Women Choosing Surgical Prevention) Active, not recruiting NCT02760849
44 Radical Fimbriectomy for Young BRCA Mutation Carriers at Risk of Pelvic Serous Carcinoma Active, not recruiting NCT01608074
45 Effects of a Nutritional Intervention in DNA Damage of Patients With Hereditary Breast and Ovarian Cancer Syndrome Active, not recruiting NCT05306002
46 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
47 Informing Latinas About HBOC Risk: a Randomized Controlled Trial Enrolling by invitation NCT05130606
48 Testing Scalable Communication Modalities for Returning Breast Cancer Genetic Research Results to African American Women Not yet recruiting NCT04407611
49 A Comparative Effectiveness Study of Cancer Risk Management for Women at Elevated Genetic Risk of Ovarian Cancer Not yet recruiting NCT01445275
50 Impact of a Psychoeducational Intervention on Expectations and Coping in Young Women (18-40 Years) Exposed to a High Familial Breast/Ovarian Cancer Risk Terminated NCT02705924

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 Ovarian Cancer Syndrome 28 BRCA1 BRCA2
2 Breast and/or Ovarian Cancer 28

Anatomical Context for Hereditary Breast Ovarian Cancer Syndrome

Organs/tissues related to Hereditary Breast Ovarian Cancer Syndrome:

MalaCards : Breast, Ovary, Prostate, Pancreas, Bone, Lymph Node, Myeloid

Publications for Hereditary Breast Ovarian Cancer Syndrome

Articles related to Hereditary Breast Ovarian Cancer Syndrome:

(show top 50) (show all 3446)
# Title Authors PMID Year
1
Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations. 62 24 5
26028024 2016
2
A common Greenlandic Inuit BRCA1 RING domain founder mutation. 62 24 5
18500671 2009
3
Founder mutations in BRCA1 and BRCA2 genes. 62 24 5
17591843 2007
4
Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families. 24 5
31841383 2020
5
Hereditary cancer screening: Case reports and review of literature on ten Ashkenazi Jewish founder mutations. 24 5
30152102 2018
6
Male BRCA mutation carriers: clinical characteristics and cancer spectrum. 24 5
29433453 2018
7
The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium. 24 5
28490613 2018
8
A new case of "de novo" BRCA1 mutation in a patient with early-onset breast cancer. 24 5
28265380 2017
9
BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers. 24 5
26586665 2016
10
Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. 24 5
26315354 2015
11
Overall survival and clinical characteristics of pancreatic cancer in BRCA mutation carriers. 24 5
25072261 2014
12
Breast-cancer risk in families with mutations in PALB2. 24 5
25099575 2014
13
BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk. 24 5
22889855 2012
14
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. 24 5
22711857 2012
15
Germline BRCA1 mutations increase prostate cancer risk. 24 5
22516946 2012
16
Characteristics of triple-negative breast cancer in patients with a BRCA1 mutation: results from a population-based study of young women. 24 5
22010008 2011
17
BRCA2 is a moderate penetrance gene contributing to young-onset prostate cancer: implications for genetic testing in prostate cancer patients. 24 5
21952622 2011
18
Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers. 24 5
19553641 2009
19
A high frequent BRCA1 founder mutation identified in the Greenlandic population. 24 5
19504351 2009
20
Breast cancer risk among male BRCA1 and BRCA2 mutation carriers. 24 5
18042939 2007
21
Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada. 24 5
17148771 2006
22
BRCA2, but not BRCA1, mutations account for familial ovarian cancer in Iceland: a population-based study. 24 5
15571962 2004
23
A low frequency of non-founder BRCA1 mutations in Ashkenazi Jewish breast-ovarian cancer families. 24 5
12402332 2002
24
Pretest prediction of BRCA1 or BRCA2 mutation by risk counselors and the computer model BRCAPRO. 24 5
12048272 2002
25
Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. 24 5
11896095 2002
26
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. 24 5
11710890 2001
27
Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Anglian Breast Cancer Study Group. 24 5
11044354 2000
28
Evidence for a BRCA1 founder mutation in families of West African ancestry. 24 5
10417303 1999
29
The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. 24 5
9145676 1997
30
BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories. 62 5
34981296 2022
31
Mutational profile of hereditary breast and ovarian cancer - Establishing genetic testing guidelines in a developing country. 62 5
34284872 2022
32
Clinical and pathological outcomes of risk-reducing salpingo-oophorectomy for Japanese women with hereditary breast and ovarian cancer. 62 5
34453642 2021
33
Spectrum of Germline Pathogenic Variants in BRCA1/2 Genes in the Apulian Southern Italy Population: Geographic Distribution and Evidence for Targeted Genetic Testing. 62 5
34572941 2021
34
Prevalence and Clinicopathological Characteristics of Moderate and High-Penetrance Genes in Non-BRCA1/2 Breast Cancer High-Risk Spanish Families. 62 5
34204722 2021
35
Multigene panel testing for hereditary breast and ovarian cancer in the province of Ontario. 62 5
32885271 2021
36
Gene Sequencing for Pathogenic Variants Among Adults With Breast and Ovarian Cancer in the Caribbean. 62 5
33646313 2021
37
Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer. 62 5
33558524 2021
38
Retrospective evaluation of risk-reducing salpingo-oophorectomy for BRCA1/2 pathogenic variant carriers among a cohort study in a single institution. 62 5
33037428 2021
39
Characteristics of BRCA1/2 pathogenic germline mutations in chinese NSCLC patients and a comparison with HBOC. 62 5
33563323 2021
40
Novel candidates of pathogenic variants of the BRCA1 and BRCA2 genes from a dataset of 3,552 Japanese whole genomes (3.5KJPNv2). 62 5
33428613 2021
41
Comprehensive analysis and ACMG-based classification of CHEK2 variants in hereditary cancer patients. 62 5
32906215 2020
42
Five Italian Families with Two Mutations in BRCA Genes. 62 5
33287145 2020
43
Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the RAD51C Gene. 62 5
33333735 2020
44
The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23-a likely pathogenic variant with reduced penetrance? 62 5
32203205 2020
45
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions. 62 5
32820175 2020
46
Genetic testing in Poland and Ukraine: should comprehensive germline testing of BRCA1 and BRCA2 be recommended for women with breast and ovarian cancer? 62 5
32772980 2020
47
Population genetic screening efficiently identifies carriers of autosomal dominant diseases. 62 5
32719484 2020
48
Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide. 62 5
32486089 2020
49
Hereditary Breast and Ovarian Cancer in Families from Southern Italy (Sicily)-Prevalence and Geographic Distribution of Pathogenic Variants in BRCA1/2 Genes. 62 5
32380732 2020
50
Clinical Validity of Next-Generation Sequencing Multi-Gene Panel Testing for Detecting Pathogenic Variants in Patients With Hereditary Breast-Ovarian Cancer Syndrome. 62 5
31650731 2020

Variations for Hereditary Breast Ovarian Cancer Syndrome

ClinVar genetic disease variations for Hereditary Breast Ovarian Cancer Syndrome:

5 (show top 50) (show all 17939)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATM NM_000051.4(ATM):c.4197dup (p.Lys1400fs) DUP Pathogenic
989410 rs2082645600 GRCh37: 11:108159789-108159790
GRCh38: 11:108289062-108289063
2 NBN NM_002485.5(NBN):c.1393A>T (p.Lys465Ter) SNV Pathogenic
989414 rs1563530658 GRCh37: 8:90967515-90967515
GRCh38: 8:89955287-89955287
3 BRIP1 NM_032043.3(BRIP1):c.-206_94-576delinsCTAAAAATCCAAAATTAGCTGGGCGTGGTGGCGCA INDEL Pathogenic
989417 GRCh37: 17:59937844-59940820
GRCh38: 17:61860483-61863459
4 NBN NM_002485.5(NBN):c.5G>A (p.Trp2Ter) SNV Pathogenic
989423 rs1812244679 GRCh37: 8:90996785-90996785
GRCh38: 8:89984557-89984557
5 RAD50 NM_005732.4(RAD50):c.3097_3098del (p.Glu1033fs) DEL Pathogenic
989425 rs1751169439 GRCh37: 5:131951754-131951755
GRCh38: 5:132616062-132616063
6 RAD51C NM_058216.3(RAD51C):c.664C>T (p.Gln222Ter) SNV Pathogenic
989426 rs2048273755 GRCh37: 17:56780649-56780649
GRCh38: 17:58703288-58703288
7 RAD51D, RAD51L3-RFFL NM_002878.4(RAD51D):c.879del (p.Cys294fs) DEL Pathogenic
989430 rs2091532104 GRCh37: 17:33428244-33428244
GRCh38: 17:35101225-35101225
8 BRIP1 NM_032043.3(BRIP1):c.1049del (p.Cys350fs) DEL Pathogenic
989432 rs2077989420 GRCh37: 17:59878705-59878705
GRCh38: 17:61801344-61801344
9 BRIP1 NM_032043.3(BRIP1):c.886G>T (p.Glu296Ter) SNV Pathogenic
430641 rs876660125 GRCh37: 17:59885860-59885860
GRCh38: 17:61808499-61808499
10 XRCC2 NM_005431.2(XRCC2):c.677dup (p.Tyr226Ter) DUP Pathogenic
636233 rs1590129294 GRCh37: 7:152345892-152345893
GRCh38: 7:152648807-152648808
11 HERPUD1 NM_014685.4(HERPUD1):c.584_585del (p.Phe195fs) DEL Pathogenic
981834 GRCh37: 16:56973834-56973835
GRCh38: 16:56939922-56939923
12 RIPK1 NM_001354930.2(RIPK1):c.1802_1805del (p.Cys601fs) DEL Pathogenic
981836 GRCh37: 6:3113359-3113362
GRCh38: 6:3113125-3113128
13 CTNNA2 NM_001282597.3(CTNNA2):c.103-1G>A SNV Pathogenic
981838 GRCh37: 2:79971512-79971512
GRCh38: 2:79744386-79744386
14 LCP1 NM_002298.5(LCP1):c.1122C>A (p.Tyr374Ter) SNV Pathogenic
981804 GRCh37: 13:46721095-46721095
GRCh38: 13:46146960-46146960
15 ATM NM_000051.4(ATM):c.5653dup (p.Thr1885fs) DUP Pathogenic
418036 rs587778077 GRCh37: 11:108175556-108175557
GRCh38: 11:108304829-108304830
16 CHEK2 NC_000022.11:g.(28695874_28696900)_(28699938_28703504)del DEL Pathogenic
981983 GRCh37: 22:29091862-29099492
GRCh38:
17 RAD51C NC_000017.10:g.(56774221_56780556)_(56811704_?)del DEL Pathogenic
992235 GRCh37: 17:56774221-56811704
GRCh38:
18 DROSHA NM_001382508.1(DROSHA):c.1498G>T (p.Glu500Ter) SNV Pathogenic
981828 GRCh37: 5:31508817-31508817
GRCh38: 5:31508710-31508710
19 PLK2 NM_006622.4(PLK2):c.1004dup (p.Leu335fs) DUP Pathogenic
981829 GRCh37: 5:57753011-57753012
GRCh38: 5:58457184-58457185
20 CTNNA1 NM_001903.5(CTNNA1):c.1206_1207insCC (p.Val403fs) INSERT Pathogenic
981830 GRCh37: 5:138223241-138223242
GRCh38: 5:138887552-138887553
21 ATM, C11orf65 NC_000011.10:g.(?_108364964)_(108365558_?)del DEL Pathogenic
1679088 GRCh37:
GRCh38: 11:108364964-108365558
22 ATM NM_000051.4(ATM):c.2638+2T>G SNV Pathogenic
1679089 GRCh37: 11:108138071-108138071
GRCh38: 11:108267344-108267344
23 CHEK2 NM_007194.4(CHEK2):c.100_101del (p.Gln34fs) MICROSAT Pathogenic
989411 rs2054330803 GRCh37: 22:29130609-29130610
GRCh38: 22:28734621-28734622
24 CHEK2 NM_007194.4(CHEK2):c.729dup (p.Lys244Ter) DUP Pathogenic
1684663 GRCh37: 22:29107959-29107960
GRCh38: 22:28711971-28711972
25 BARD1 NM_000465.4(BARD1):c.390_391del (p.Ser131fs) DEL Pathogenic
1679026 GRCh37: 2:215646207-215646208
GRCh38: 2:214781483-214781484
26 ATM NM_000051.4(ATM):c.5212A>T (p.Lys1738Ter) SNV Pathogenic
1678889 GRCh37: 11:108172409-108172409
GRCh38: 11:108301682-108301682
27 BRIP1 NM_032043.3(BRIP1):c.1889del (p.Thr630fs) DEL Pathogenic
419076 rs1064793626 GRCh37: 17:59857668-59857668
GRCh38: 17:61780307-61780307
28 PTCH1 NM_000264.5(PTCH1):c.454A>G (p.Met152Val) SNV Pathogenic
981837 GRCh37: 9:98248097-98248097
GRCh38: 9:95485815-95485815
29 BRCA2 NM_000059.3(BRCA2):c.(?_-1)_67+?del DEL Pathogenic
132728 GRCh37: 13:32890470-32890470
GRCh38: 13:32316460-32316527
30 BRCA1 NM_007294.3(BRCA1):c.4358-?_5277+?del DEL Pathogenic
89063 GRCh37: 17:41209069-41228631
GRCh38: 17:43057052-43076614
31 BRCA2 NM_000059.4(BRCA2):c.3779del (p.Leu1260fs) DEL Pathogenic
96798 rs397507686 GRCh37: 13:32912269-32912269
GRCh38: 13:32338132-32338132
32 BRCA2 NM_000059.4(BRCA2):c.4976_4977insG (p.Tyr1661fs) INSERT Pathogenic
96813 rs431825325 GRCh37: 13:32913468-32913469
GRCh38: 13:32339331-32339332
33 BRCA2 NM_000059.4(BRCA2):c.3351_3352dup (p.Leu1118fs) MICROSAT Pathogenic
183077 rs730882134 GRCh37: 13:32911839-32911840
GRCh38: 13:32337702-32337703
34 BRCA1 NM_007294.3(BRCA1):c.4987-?_5074+?del DEL Pathogenic
89067 GRCh37: 17:41219625-41219712
GRCh38: 17:43067608-43067695
35 BRCA1 NM_007294.3(BRCA1):c.4186-?_4357+?dup172 DUP Pathogenic
188222 GRCh37: 17:41234421-41234592
GRCh38: 17:43082404-43082575
36 BRCA1 NM_007294.3(BRCA1):c.5278-?_5467+?del DEL Pathogenic
188228 GRCh37: 17:41199660-41203134
GRCh38: 17:43047643-43051117
37 BRCA1 NM_007294.4(BRCA1):c.5259del (p.Glu1754fs) DEL Pathogenic
37651 rs80357925 GRCh37: 17:41209087-41209087
GRCh38: 17:43057070-43057070
38 BRCA1 NM_007294.3(BRCA1):c.(?_-1)_80+?del DEL Pathogenic
218291 GRCh37: 17:41276034-41276114
GRCh38: 17:43124017-43124097
39 BRCA2 NM_000059.3(BRCA2):c.517-?_631+?del DEL Pathogenic
188380 GRCh37: 13:32900636-32900750
GRCh38:
40 BRCA1 and overlap with 2 gene(s) NM_007294.3(BRCA1):c.(?_-1)_134+?del DEL Pathogenic
218290 GRCh37: 17:41267743-41276114
GRCh38: 17:43115726-43124097
41 BRCA2 NM_000059.4(BRCA2):c.5595_5596delinsC (p.Phe1866fs) INDEL Pathogenic
208421 rs797044987 GRCh37: 13:32914087-32914088
GRCh38: 13:32339950-32339951
42 BRCA2 NM_000059.4(BRCA2):c.4176del (p.Ala1393fs) DEL Pathogenic
216853 rs863224825 GRCh37: 13:32912667-32912667
GRCh38: 13:32338530-32338530
43 BRCA2 NM_000059.4(BRCA2):c.6022A>T (p.Lys2008Ter) SNV Pathogenic
216029 rs863224467 GRCh37: 13:32914514-32914514
GRCh38: 13:32340377-32340377
44 BRCA2 NM_000059.4(BRCA2):c.1A>G (p.Met1Val) SNV Pathogenic
216026 rs863224464 GRCh37: 13:32890598-32890598
GRCh38: 13:32316461-32316461
45 BRCA1 NM_007294.3(BRCA1):c.4358-?_4484+?del DEL Pathogenic
216104 GRCh37: 17:41228505-41228631
GRCh38: 17:43076488-43076614
46 BRCA1 NM_007294.3(BRCA1):c.135-?_5193+?del DEL Pathogenic
216101 GRCh37:
GRCh38:
47 BRCA1 NM_007294.4(BRCA1):c.490del (p.Thr164fs) DEL Pathogenic
216107 rs863224512 GRCh37: 17:41251849-41251849
GRCh38: 17:43099832-43099832
48 BRCA2 NM_000059.4(BRCA2):c.(6841+1_6842-1)_(7007+1_7008-1)del DEL Pathogenic
216030 GRCh37: 13:32915334-32928997
GRCh38:
49 BRCA1 NM_007294.4(BRCA1):c.4474G>T (p.Gly1492Ter) SNV Pathogenic
216105 rs863224511 GRCh37: 17:41228515-41228515
GRCh38: 17:43076498-43076498
50 BRCA1 NC_000017.11:g.(?_43045678)_(43051117_?)del DEL Pathogenic
437839 GRCh37: 17:41197695-41203134
GRCh38: 17:43045678-43051117

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 top 50) (show all 52)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.09 ATM BARD1 BRCA1 BRIP1 CHEK2 MLH1
2
Show member pathways
13.87 ATM BARD1 BRCA1 BRCA2 BRIP1 MLH1
3
Show member pathways
13.57 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
4
Show member pathways
13.29 XRCC2 TP53 RAD51D RAD51C RAD50 PMS2
5
Show member pathways
13.21 ATM BRCA1 MLH1 MSH2 PMS2 RAD51D
6
Show member pathways
13.08 ATM BARD1 BRCA1 BRIP1 CHEK2 MLH1
7
Show member pathways
13.05 TP53 RAD50 NBN MSH6 MSH2 MLH1
8
Show member pathways
13 RAD51D XRCC2 RAD51C RAD50 PMS2 PALB2
9
Show member pathways
12.86 ATM BARD1 BRCA1 BRIP1 CHEK2 NBN
10
Show member pathways
12.8 RAD51C RAD50 NBN MLH1 BRCA2 BRCA1
11
Show member pathways
12.76 BRCA2 MLH1 MSH2 MSH6 PTEN TP53
12
Show member pathways
12.75 TP53 RAD50 NBN MSH6 MSH2 CHEK2
13
Show member pathways
12.74 ATM BRCA1 BRCA2 RAD51C RAD50 PMS2
14 12.71 TP53 PTEN BRCA1 BARD1 ATM
15
Show member pathways
12.57 TP53 RAD50 PTEN NBN BRCA2 BRCA1
16
Show member pathways
12.52 PMS2 MSH6 MSH2 MLH1 BRCA1 BARD1
17
Show member pathways
12.49 TP53 RAD50 NBN CHEK2 BRCA1 BARD1
18
Show member pathways
12.29 TP53 PTEN CHEK2 BRCA1 ATM
19
Show member pathways
12.23 TP53 RAD50 NBN CHEK2 BRCA1 ATM
20 12.21 TP53 MSH6 MSH2 MLH1
21 12.15 TP53 PTEN PMS2 MSH2 MLH1
22 12.13 TP53 RAD50 PTEN MSH6 MSH2 CHEK2
23 12.12 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
24
Show member pathways
12.08 TP53 RAD50 NBN CHEK2 BRCA2 BRCA1
25
Show member pathways
12.04 XRCC2 RAD51D RAD51C RAD50 PALB2 NBN
26
Show member pathways
11.96 TP53 RAD50 NBN CHEK2 BRCA1 ATM
27 11.9 TP53 PTEN ATM
28 11.86 PTEN MSH2 MLH1
29 11.83 TP53 RAD50 NBN MSH6 MSH2 MLH1
30 11.82 TP53 MSH6 BARD1
31
Show member pathways
11.77 TP53 RAD50 NBN MSH6 MSH2 CHEK2
32
Show member pathways
11.76 TP53 CHEK2 ATM
33 11.75 TP53 PTEN BRCA1 ATM
34 11.71 RAD50 NBN ATM
35 11.68 ATM BARD1 BRCA1 CHEK2 NBN TP53
36 11.6 ATM CHEK2 NBN RAD50
37 11.57 ATM CHEK2 TP53
38 11.55 TP53 RAD50 PTEN MSH6 MSH2 CHEK2
39
Show member pathways
11.52 TP53 CHEK2 ATM
40
Show member pathways
11.52 MSH2 MLH1 CHEK2
41 11.48 TP53 RAD50 NBN BRCA1 BARD1 ATM
42
Show member pathways
11.46 TP53 MSH2 MLH1
43 11.43 TP53 PTEN CHEK2 ATM
44 11.38 PMS2 MSH6 MSH2 MLH1
45 11.36 TP53 BRCA1 ATM
46 11.23 RAD50 NBN BRCA1
47 11.12 TP53 BRCA1 ATM
48 10.92 RAD50 NBN BRCA1 ATM
49 10.66 RAD50 NBN ATM
50 10.59 TP53 CHEK2 ATM

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 20)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.78 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
2 nucleoplasm GO:0005654 10.58 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
3 PML body GO:0016605 10.13 CHEK2 NBN PTEN TP53
4 chromosome GO:0005694 10.13 BRCA1 BRCA2 MLH1 MSH2 MSH6 NBN
5 chromosome, telomeric region GO:0000781 10 ATM BRCA2 CHEK2 MSH2 NBN RAD50
6 microtubule organizing center GO:0005815 9.97 XRCC2 TP53 RAD51D BRCA2 ATM
7 nuclear ubiquitin ligase complex GO:0000152 9.93 BRCA2 BRCA1 BARD1
8 BRCA1-A complex GO:0070531 9.89 BRCA1 BARD1
9 condensed nuclear chromosome GO:0000794 9.88 RAD50 MLH1 BRCA1
10 mismatch repair complex GO:0032300 9.88 PMS2 MSH2 MLH1
11 BRCA1-B complex GO:0070532 9.88 BRIP1 BRCA1 BARD1
12 chromosomal region GO:0098687 9.87 RAD50 NBN
13 Mre11 complex GO:0030870 9.86 RAD50 NBN
14 DNA repair complex GO:1990391 9.86 PALB2 BRCA2 BRCA1 ATM
15 BRCA1-BARD1 complex GO:0031436 9.85 BARD1 BRCA1
16 Rad51B-Rad51C-Rad51D-XRCC2 complex GO:0033063 9.85 XRCC2 RAD51D RAD51C
17 MutLalpha complex GO:0032389 9.81 PMS2 MLH1
18 MutSalpha complex GO:0032301 9.8 MSH6 MSH2
19 replication fork GO:0005657 9.65 XRCC2 TP53 RAD51D RAD51C NBN
20 BRCA1-C complex GO:0070533 9.23 RAD50 NBN BRCA1 BARD1

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

(show top 50) (show all 54)
# Name GO ID Score Top Affiliating Genes
1 regulation of cell cycle GO:0051726 10.32 TP53 RAD51D PTEN NBN MSH2 BRCA1
2 in utero embryonic development GO:0001701 10.28 MSH2 NBN PALB2 TP53 XRCC2
3 multicellular organism growth GO:0035264 10.26 XRCC2 TP53 PALB2 ATM
4 telomere maintenance GO:0000723 10.24 ATM NBN RAD50 RAD51D
5 somitogenesis GO:0001756 10.23 XRCC2 TP53 PALB2 ATM
6 cellular response to ionizing radiation GO:0071479 10.22 BARD1 BRCA1 BRCA2 TP53
7 DNA damage checkpoint signaling GO:0000077 10.21 NBN CHEK2 BRIP1 ATM
8 cell cycle GO:0007049 10.21 TP53 RAD50 NBN MLH1 CHEK2 BRCA2
9 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 10.2 BRCA2 CHEK2 MSH2 TP53
10 cellular senescence GO:0090398 10.19 TP53 BRCA2 ATM
11 mismatch repair GO:0006298 10.19 PMS2 MSH6 MSH2 MLH1
12 nucleotide-excision repair GO:0006289 10.18 BRCA2 BRIP1 TP53
13 mitotic G2 DNA damage checkpoint signaling GO:0007095 10.17 NBN BRCA1 ATM
14 intrinsic apoptotic signaling pathway GO:0097193 10.16 TP53 NBN MSH6
15 meiotic cell cycle GO:0051321 10.16 XRCC2 RAD50 NBN MLH1
16 determination of adult lifespan GO:0008340 10.16 TP53 MSH6 MSH2 ATM
17 double-strand break repair via homologous recombination GO:0000724 10.16 ATM BRCA1 BRCA2 NBN PALB2 RAD51C
18 cellular response to gamma radiation GO:0071480 10.15 TP53 CHEK2 ATM
19 response to X-ray GO:0010165 10.15 BRCA2 MSH2 TP53 XRCC2
20 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 10.14 ATM CHEK2 TP53
21 mitotic G2/M transition checkpoint GO:0044818 10.14 BARD1 BRCA1 NBN RAD50
22 replicative senescence GO:0090399 10.13 TP53 CHEK2 ATM
23 response to gamma radiation GO:0010332 10.13 XRCC2 TP53 CHEK2 BRCA2
24 isotype switching GO:0045190 10.13 NBN MSH6 MSH2 MLH1
25 histone H2A monoubiquitination GO:0035518 10.12 BRCA2 BRCA1 BARD1
26 regulation of DNA damage checkpoint GO:2000001 10.12 BRCA2 BRCA1 BARD1
27 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 10.11 TP53 CHEK2 BRCA2
28 somatic hypermutation of immunoglobulin genes GO:0016446 10.11 PMS2 MSH6 MSH2 MLH1
29 reciprocal meiotic recombination GO:0007131 10.11 ATM MLH1 RAD50 RAD51C RAD51D
30 double-strand break repair GO:0006302 10.11 ATM BRCA1 BRCA2 BRIP1 CHEK2 MSH2
31 telomere maintenance via recombination GO:0000722 10.1 BRCA2 RAD50 RAD51C RAD51D
32 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 10.1 MSH6 MSH2 MLH1 CHEK2 BRCA2 BRCA1
33 signal transduction in response to DNA damage GO:0006975 10.09 ATM CHEK2
34 signal transduction in response to DNA damage GO:0042770 10.09 ATM CHEK2
35 homologous recombination GO:0035825 10.07 BARD1 BRCA1 BRIP1 NBN RAD50
36 DNA recombination GO:0006310 10.06 XRCC2 RAD51D RAD51C RAD50 PALB2 BRCA2
37 negative regulation of telomere capping GO:1904354 10.05 ATM NBN RAD50
38 DNA strand resection involved in replication fork processing GO:0110025 10.03 RAD50 NBN BRCA1 BARD1
39 cellular response to DNA damage stimulus GO:0006974 10.02 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
40 histone H2A K63-linked deubiquitination GO:0070537 10.01 BRCA1 BARD1
41 meiotic telomere clustering GO:0045141 10.01 MLH1 ATM
42 positive regulation of helicase activity GO:0051096 10.01 MSH6 MSH2
43 positive regulation of isotype switching to IgA isotypes GO:0048298 10 MSH2 MLH1
44 telomeric 3' overhang formation GO:0031860 9.99 NBN RAD50
45 strand invasion GO:0042148 9.99 RAD51D XRCC2
46 chromosome organization GO:0051276 9.97 TP53 RAD51D BRCA2
47 regulation of fibroblast apoptotic process GO:2000269 9.97 XRCC2 TP53
48 somatic recombination of immunoglobulin gene segments GO:0016447 9.97 MSH6 MSH2 MLH1
49 DNA metabolic process GO:0006259 9.92 XRCC2 RAD51D RAD51C BRIP1
50 chromosome organization involved in meiotic cell cycle GO:0070192 9.88 RAD50 ATM

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 10.45 ATM BRIP1 CHEK2 MLH1 MSH2 MSH6
2 DNA binding GO:0003677 10.32 ATM BRCA1 BRCA2 BRIP1 MSH2 MSH6
3 enzyme binding GO:0019899 10.29 TP53 PTEN MSH6 MSH2 MLH1 BRCA1
4 nucleotide binding GO:0000166 10.11 RAD51D RAD51C RAD50 MSH6 MSH2 MLH1
5 single-stranded DNA binding GO:0003697 10.07 RAD51D PMS2 MSH2 MLH1 BRCA2
6 ATP-dependent activity, acting on DNA GO:0008094 10 RAD51D MSH6 MSH2
7 damaged DNA binding GO:0003684 9.91 NBN MSH6 MSH2 BRCA1
8 MutSalpha complex binding GO:0032407 9.86 PMS2 MLH1
9 MutLalpha complex binding GO:0032405 9.85 MSH6 MSH2
10 oxidized purine DNA binding GO:0032357 9.84 MSH6 MSH2
11 single guanine insertion binding GO:0032142 9.8 MSH2 MSH6
12 guanine/thymine mispair binding GO:0032137 9.8 MSH6 MSH2 MLH1
13 single thymine insertion binding GO:0032143 9.78 MSH6 MSH2
14 four-way junction DNA binding GO:0000400 9.65 MSH2 MSH6 RAD51C RAD51D XRCC2
15 mismatched DNA binding GO:0030983 9.63 PMS2 MSH6 MSH2 MLH1
16 ATP-dependent DNA damage sensor activity GO:0140664 9.53 XRCC2 RAD51D RAD51C RAD50 PMS2 MSH6

Sources for Hereditary Breast Ovarian Cancer Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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