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MCID: HRD200
MIFTS: 58

Hereditary Breast Ovarian Cancer Syndrome

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 60 30 6 45 74
Brca1- and Brca2-Associated Hereditary Breast and Ovarian Cancer 12 25
Hboc 25

Characteristics:

Orphanet epidemiological data:

60
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: 35
Orphanet: 60  
Rare gynaecological and obstetric diseases


External Ids:

Disease Ontology 12 DOID:5683
MeSH 45 D061325
NCIt 51 C8493
ICD10 via Orphanet 35 C50 C56
UMLS via Orphanet 75 C0677776
Orphanet 60 ORPHA145
UMLS 74 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 1 and li-fraumeni syndrome 2. 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 Carboplatin and Paclitaxel have been mentioned in the context of this disorder. Affiliated tissues include breast, testes and pancreas, and related phenotypes are ovarian neoplasm and abnormality of the fallopian tube

Wikipedia : 77 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 91)
# Related Disease Score Top Affiliating Genes
1 breast-ovarian cancer, familial 1 30.5 BRCA1 BRCA2 NBN
2 li-fraumeni syndrome 2 30.5 CHEK2 TP53
3 lynch syndrome 29.3 BRCA1 BRCA2 MLH1 MSH6 TP53
4 familial adenomatous polyposis 29.3 MLH1 MSH6 TP53
5 li-fraumeni syndrome 29.2 ATM BRCA1 BRCA2 CHEK2 MLH1 PTEN
6 ovarian cancer 28.1 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
7 breast cancer 26.8 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
8 brca2 hereditary breast and ovarian cancer syndrome 11.9
9 pancreatic cancer 11.4
10 brca1 hereditary breast and ovarian cancer syndrome 11.3
11 hereditary site-specific ovarian cancer syndrome 10.5 BRCA1 BRCA2
12 tuberculous salpingitis 10.4 BRCA1 BRCA2
13 nosophobia 10.4 BRCA1 BRCA2
14 cancerophobia 10.4 BRCA1 BRCA2
15 tracheoesophageal fistula with or without esophageal atresia 10.4 BRCA2 PALB2
16 breast reconstruction 10.4 BRCA1 BRCA2
17 isolated tracheoesophageal fistula 10.4 BRCA2 PALB2
18 haemophilus influenzae 10.4
19 fanconi anemia, complementation group n 10.3 BRCA2 BRIP1 PALB2
20 pancreatic neuroendocrine tumor 10.3 ATM BRCA2 PALB2
21 glycogen-rich clear cell breast carcinoma 10.3 BRCA1 BRCA2 TP53
22 fanconi anemia, complementation group j 10.3 BRCA1 BRIP1 PALB2
23 primary peritoneal carcinoma 10.3 BRCA1 BRCA2 TP53
24 mutagen sensitivity 10.3 BRCA1 BRCA2 TP53
25 pre-malignant neoplasm 10.3 BRCA1 BRCA2 TP53
26 tracheoesophageal fistula 10.3 BRCA2 BRIP1 PALB2
27 fanconi anemia, complementation group u 10.3 BRCA1 RAD51 RAD51C
28 fallopian tube carcinoma 10.3 BRCA1 BRCA2 TP53
29 breast carcinoma in situ 10.3 BRCA1 BRCA2 TP53
30 fanconi anemia, complementation group q 10.3 BRCA1 BRCA2 RAD51
31 ovarian cancer 1 10.3 BRCA1 BRCA2 TP53
32 malignant ovarian surface epithelial-stromal neoplasm 10.3 BRCA1 BRCA2 TP53
33 ovary epithelial cancer 10.3 BRCA1 BRCA2 TP53
34 fallopian tube adenocarcinoma 10.3 BRCA1 BRCA2
35 ductal carcinoma in situ 10.3 BRCA1 BRCA2 TP53
36 tumor predisposition syndrome 10.2 BRCA2 MRE11 PALB2
37 peritoneum cancer 10.2 BRCA1 BRCA2 PALB2 RAD51D
38 congenital hypoplastic anemia 10.2 BRCA2 BRIP1 RAD51
39 ataxia-telangiectasia-like disorder 1 10.2 MRE11 NBN
40 gonadal disease 10.2 BRCA1 BRCA2 RAD51C TP53
41 diphtheria 10.2
42 nijmegen breakage syndrome-like disorder 10.2 MRE11 RAD50
43 uterine corpus serous adenocarcinoma 10.1 BRCA1 TP53
44 clivus chordoma 10.1 ATM CHEK2 PTEN
45 peutz-jeghers syndrome 10.1 BRCA2 PTEN TP53
46 richter's syndrome 10.0 ATM MLH1 TP53
47 ovarian disease 10.0 BRCA1 BRCA2 PTEN TP53
48 pityriasis rubra pilaris 10.0
49 pertussis 10.0
50 tetanus 10.0

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:

60 33 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ovarian neoplasm 60 33 hallmark (90%) Very frequent (99-80%) HP:0100615
2 abnormality of the fallopian tube 60 33 hallmark (90%) Very frequent (99-80%) HP:0011027
3 primary peritoneal carcinoma 60 33 hallmark (90%) Very frequent (99-80%) HP:0030406
4 breast carcinoma 60 33 frequent (33%) Frequent (79-30%) HP:0003002
5 melanoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0002861
6 neoplasm of the pancreas 60 33 occasional (7.5%) Occasional (29-5%) HP:0002894
7 prostate cancer 60 33 occasional (7.5%) Occasional (29-5%) HP:0012125

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

27 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00151-A-1 10.72 BARD1 BRCA1 RAD51
2 Decreased homologous recombination repair frequency GR00151-A-2 10.72 BRCA1 RAD51
3 Decreased homologous recombination repair frequency GR00236-A-1 10.72 BARD1 BRCA1 BRCA2 PALB2 RAD51
4 Decreased homologous recombination repair frequency GR00236-A-2 10.72 ATM BARD1 BRCA1 BRCA2 PALB2 RAD51
5 Decreased homologous recombination repair frequency GR00236-A-3 10.72 BARD1 BRCA1 BRCA2 PALB2 RAD51
6 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10.39 ATM BARD1 BRCA1 BRCA2 CHEK2 MLH1
7 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.39 ATM BARD1 BRCA1 BRCA2 CHEK2 MLH1
8 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 10.16 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
9 Decreased viability with cisplatin GR00101-A-4 9.72 BARD1 BRCA1 BRCA2 BRIP1 RAD51
10 Synthetic lethal with cisplatin GR00101-A-1 9.55 BARD1 BRCA1 BRCA2 BRIP1 RAD51
11 Decreased viability after ionizing radiation GR00232-A-2 9.54 ATM BRCA1 BRCA2
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:

47 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.44 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
2 embryo MP:0005380 10.34 ATM BARD1 BRCA1 BRCA2 MRE11 NBN
3 endocrine/exocrine gland MP:0005379 10.29 ATM BRCA1 BRCA2 BRIP1 CHEK2 HSD17B1
4 growth/size/body region MP:0005378 10.27 ATM BARD1 BRCA1 BRCA2 NBN PALB2
5 homeostasis/metabolism MP:0005376 10.27 ATM BRCA1 BRCA2 BRIP1 CHEK2 HSD17B1
6 behavior/neurological MP:0005386 10.25 ATM BRCA1 BRCA2 HSD17B1 MRE11 NBN
7 hematopoietic system MP:0005397 10.22 ATM BRCA1 BRCA2 CHEK2 MLH1 MRE11
8 mortality/aging MP:0010768 10.22 ATM BARD1 BRCA1 BRCA2 CHEK2 MLH1
9 immune system MP:0005387 10.17 ATM BRCA1 BRCA2 CHEK2 MLH1 MRE11
10 neoplasm MP:0002006 10.1 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
11 integument MP:0010771 10.06 ATM BRCA1 BRCA2 MLH1 MSH6 PALB2
12 nervous system MP:0003631 9.97 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
13 limbs/digits/tail MP:0005371 9.91 BRCA1 BRCA2 PALB2 PTEN RAD50 RAD51D
14 reproductive system MP:0005389 9.4 ATM BRCA1 BRCA2 BRIP1 HSD17B1 MLH1
15 pigmentation MP:0001186 9.26 BRCA1 PTEN RAD50 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 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 2,Phase 1 41575-94-4 10339178 38904 498142
2
Paclitaxel Approved, Vet_approved Phase 2,Phase 1 33069-62-4 36314
3
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
4
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
5
Zoledronic Acid Approved Phase 2 118072-93-8 68740
6
Doxil Approved June 1999 Phase 2 31703
7
Imidazole Experimental, Investigational Phase 2 288-32-4 795
8 Antineoplastic Agents, Phytogenic Phase 2,Phase 1
9 Albumin-Bound Paclitaxel Phase 2,Phase 1
10 Antimitotic Agents Phase 2,Phase 1
11 Antineoplastic Agents, Alkylating Phase 2
12 Antirheumatic Agents Phase 2
13 Immunologic Factors Phase 2
14 Alkylating Agents Phase 2
15 Topoisomerase Inhibitors Phase 2
16 Antibiotics, Antitubercular Phase 2
17 Anti-Bacterial Agents Phase 2
18 Immunosuppressive Agents Phase 2
19 Bone Density Conservation Agents Phase 2
20
Veliparib Investigational Phase 1 912444-00-9 11960529
21 Poly(ADP-ribose) Polymerase Inhibitors Phase 1
22
Metformin Approved 657-24-9 14219 4091
23
Pancrelipase Approved, Investigational 53608-75-6
24
Ethanol Approved Not Applicable 64-17-5 702
25 Cola
26 Hormones
27 Gastrointestinal Agents
28 pancreatin

Interventional clinical trials:

(show all 43)
# Name Status NCT ID Phase Drugs
1 Protexa® Versus TiLoopBra® in Immediate Breast Reconstruction- A Pilot Study Completed NCT02562170 Phase 4
2 Trial of Inquiry Based Stress Reduction (IBSR) Program for BRCA1/2 Mutation Carriers Recruiting NCT03162276 Phase 3
3 Trial of Inquiry Based Stress Reduction (IBSR) Program for BRCA1/2 Mutation Carriers Completed NCT01367639 Phase 2
4 Search Allelic Imbalance of Expression of BRCA Genes in Hereditary Risk of Breast and/or Ovarian Cancer Completed NCT01333748 Phase 2
5 Neoadjuvant Carboplatin in Triple Negative Breast Cancer Recruiting NCT02978495 Phase 2 Doxorubicin;Carboplatin;Paclitaxel;Cyclophosphamide
6 Surgery in Preventing Ovarian Cancer in Patients With Genetic Mutations Recruiting NCT02760849 Phase 2
7 A Phase II Single Arm Pilot Study of the Chk1/2 Inhibitor (LY2606368) in BRCA1/2 Mutation Associated Breast or Ovarian Cancer, Triple Negative Breast Cancer, High Grade Serous Ovarian Cancer, and Metastatic Castrate-Resistant Prostate Cancer Recruiting NCT02203513 Phase 2 LY2606368
8 Zoledronate or Observation in Maintaining Bone Mineral Density in Patients Who Are Undergoing Surgery to Remove Both Ovaries Active, not recruiting NCT00305695 Phase 2 Zoledronic Acid
9 Veliparib, Carboplatin, and Paclitaxel in Treating Patients With Advanced Solid Cancer Completed NCT00535119 Phase 1 Carboplatin;Paclitaxel;Veliparib
10 Veliparib in Treating Patients With Malignant Solid Tumors That Do Not Respond to Previous Therapy Completed NCT00892736 Phase 1 Veliparib
11 Familial Cancer Registry and DNA Bank Unknown status NCT02083224
12 Hypodontia and Ovarian Cancer Unknown status NCT01470235
13 Statewide Communication to Reach Diverse Low Income Women Completed NCT02956681 Not Applicable
14 Cancer Genetics Hereditary Cancer Panel Testing Completed NCT02324062
15 Identification and Referral of Women at Risk for Hereditary Breast/Ovarian Cancer Completed NCT02786147
16 Telemedicine vs. Face-to-Face Cancer Genetic Counseling Completed NCT00609505 Not Applicable
17 Attitudes About Childbearing And Fertility With Inherited Breast And Ovarian Cancer Syndromes (HBOC) Completed NCT00829959
18 Genetic Risk: Whether, When, and How to Tell Adolescents Completed NCT03421327
19 Risk Education and Assessment for Cancer Heredity Completed NCT01346761 Not Applicable
20 Enhancing At-risk Latina Women's Use of Genetic Counseling for Hereditary Breast and Ovarian Cancer Recruiting NCT03075540 Not Applicable
21 Is it Feasible?: Self-Affirmation for Hereditary Breast and Ovarian Cancer Genetic Counseling Recruiting NCT03225170 Not Applicable
22 Testing an Intelligent Tutoring System to Enhance Genetic Risk Assessment Recruiting NCT03511690 Not Applicable
23 Triple Negative Breast Cancer and Germline Hereditary Breast and Ovarian Cancer Mutation Carrier Registry Recruiting NCT02302742
24 Women at Risk of Breast Cancer and OLFM4 Recruiting NCT02653105 Not Applicable
25 Inherited Susceptible Genes Among Epithelial Ovarian Cancer Recruiting NCT03015376
26 Efficacy of Lifestyle Intervention in BRCA1/2 Mutation Carriers Recruiting NCT02516540 Not Applicable
27 Risk-Reducing Surgeries for Hereditary Ovarian Cancer Recruiting NCT03294343 Not Applicable
28 Investigation of Tumour Spectrum of Germline Mutations in Breast and Ovarian Cancer Genes. Recruiting NCT03246841 Not Applicable
29 Decision Support for BRCA Testing in Ethnically Diverse Women Recruiting NCT03470402 Not Applicable
30 Cascade Genetic Testing for Hereditary Breast/Ovarian Cancer and Lynch Syndrome in Switzerland Recruiting NCT03124212
31 Cancer Health Assessments Reaching Many Recruiting NCT03426878 Not Applicable
32 Blood Markers of Early Pancreas Cancer Recruiting NCT03568630
33 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
34 Testing a Culturally Adapted Telephone Genetic Counseling Intervention Active, not recruiting NCT03959267 Not Applicable
35 Feasibility of Lifestyle Intervention in BRCA1/2 Mutation Carriers Active, not recruiting NCT02087592 Not Applicable
36 Radical Fimbriectomy for Young BRCA Mutation Carriers Active, not recruiting NCT01608074 Not Applicable
37 Cluster Randomized Trial Comparing Interventions to Enhance Genetic Counseling Among Breast Cancer Patients Active, not recruiting NCT01789684 Not Applicable
38 Genetic Counseling for Breast Cancer Survivors (GC for BC) Active, not recruiting NCT02451735 Not Applicable
39 Tissue Expansion in Breast Reconstruction Without Drains Not yet recruiting NCT03784859
40 Pediatric Reporting of Adult-Onset Genomic Results Not yet recruiting NCT03832985 Not Applicable
41 Cost of Cancer Risk Management in Women at Elevated Genetic Risk for Ovarian Cancer Who Participated on GOG-0199 Not yet recruiting NCT01445275
42 Impact of a Psychoeducational Intervention on Expectations and Coping in Young Women Exposed to a High HBOC Risk Terminated NCT02705924 Not Applicable
43 Family Communication of Hereditary Breast and Ovarian Cancer Risk Among African Americans Terminated NCT01374685

Search NIH Clinical Center for Hereditary Breast Ovarian Cancer Syndrome

Cochrane evidence based reviews: hereditary breast and ovarian cancer syndrome

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 30 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:

42
Breast, Testes, Pancreas, Prostate, Ovary, Bone, 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 67)
# Title Authors Year
1
Concerns and Expectations of Risk-Reducing Surgery in Women with Hereditary Breast and Ovarian Cancer Syndrome. ( 30841601 )
2019
2
Reducing the Risk of Gynecologic Cancer in Hereditary Breast Ovarian Cancer Syndrome Mutation Carriers: Moral Dilemmas and the Principle of Double Effect. ( 30275608 )
2018
3
Investigating barriers to genetic counseling and germline mutation testing in women with suspected hereditary breast and ovarian cancer syndrome and Lynch syndrome. ( 29273311 )
2018
4
A Recurrent BRCA2 Mutation Explains the Majority of Hereditary Breast and Ovarian Cancer Syndrome Cases in Puerto Rico. ( 30400234 )
2018
5
A tandem duplication of BRCA1 exons 1-19 through DHX8 exon 2 in four families with hereditary breast and ovarian cancer syndrome. ( 30191368 )
2018
6
"Second-Class Status?" Insight into Communication Patterns and Common Concerns Among Men with Hereditary Breast and Ovarian Cancer Syndrome. ( 29404823 )
2018
7
Hereditary Breast and Ovarian Cancer Syndrome: Moving Beyond BRCA1 and BRCA2. ( 28914618 )
2018
8
Familial Gastrointestinal Stromal Tumor with Germline KIT Mutations Accompanying Hereditary Breast and Ovarian Cancer Syndrome. ( 28314314 )
2017
9
Georgia Primary Care Providers' Knowledge of Hereditary Breast and Ovarian Cancer Syndrome. ( 26637472 )
2017
10
Pedigree and BRCA gene analysis in breast cancer patients to identify hereditary breast and ovarian cancer syndrome to prevent morbidity and mortality of disease in Indian population. ( 28231738 )
2017
11
A case series of three Sri Lankan families with hereditary breast and ovarian cancer syndrome due to pathogenic germline mutations in the BRCA1 gene ( 28390335 )
2017
12
Characterization of a new BRCA1 rearrangement in an Italian woman with hereditary breast and ovarian cancer syndrome. ( 28488140 )
2017
13
Identification and Characterization of a New BRCA2 Rearrangement in an Italian Family with Hereditary Breast and Ovarian Cancer Syndrome. ( 28620890 )
2017
14
Practice Bulletin No. 182 Summary: Hereditary Breast and Ovarian Cancer Syndrome. ( 28832475 )
2017
15
Practice Bulletin No 182: Hereditary Breast and Ovarian Cancer Syndrome. ( 28832484 )
2017
16
Final report of the Committee on Gynecologic Oncology, the Japan Society of Obstetrics and Gynecology, on a fact-finding questionnaire on the status of treatment of hereditary breast and ovarian cancer syndrome in Japan. ( 28833906 )
2017
17
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. ( 27854360 )
2017
18
Müllerian intra-abdominal carcinomatosis in hereditary breast ovarian cancer syndrome: implications for risk-reducing surgery. ( 26875157 )
2016
19
Accelerated geroncogenesis in hereditary breast-ovarian cancer syndrome. ( 26943589 )
2016
20
Eligibility Criteria and Genetic Testing Results from a High-Risk Cohort for Hereditary Breast and Ovarian Cancer Syndrome in Southeastern Ontario. ( 26941049 )
2016
21
BRCA1 and BRCA2 rearrangements in Brazilian individuals with Hereditary Breast and Ovarian Cancer Syndrome. ( 27303907 )
2016
22
Public Health Approaches and Barriers to Educating Providers about Hereditary Breast and Ovarian Cancer Syndrome. ( 27417607 )
2016
23
Endometrial cancers in mutation carriers from hereditary breast ovarian cancer syndrome kindreds: report from the Creighton University Hereditary Cancer Registry with review of the implications. ( 25756400 )
2015
24
A survey of genetic counselors about the needs of 18-25 year olds from families with hereditary breast and ovarian cancer syndrome. ( 25011978 )
2015
25
Identifying Women at Risk for Hereditary Breast and Ovarian Cancer Syndrome Utilizing Breast Care Nurse Navigation at Mammography and Imaging Centers. ( 27045154 )
2015
26
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ( 25356965 )
2015
27
Targeted therapy for hereditary cancer syndromes: hereditary breast and ovarian cancer syndrome, Lynch syndrome, familial adenomatous polyposis, and Li-Fraumeni syndrome. ( 25549704 )
2014
28
Early detection of high-grade tubal serous carcinoma in women at low risk for hereditary breast and ovarian cancer syndrome by systematic examination of fallopian tubes incidentally removed during benign surgery. ( 24820399 )
2014
29
Hereditary breast and ovarian cancer syndrome: considering the complexities. ( 25497409 )
2014
30
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. ( 24366402 )
2014
31
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. ( 24493721 )
2014
32
Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement. ( 24366376 )
2014
33
Hereditary breast/ovarian cancer syndrome: a primer for obstetricians/gynecologists. ( 24021253 )
2013
34
Experience of risk-reducing salpingo-oophorectomy for a BRCA1 mutation carrier and establishment of a system performing a preventive surgery for hereditary breast and ovarian cancer syndrome in Japan: our challenges for the future. ( 23487443 )
2013
35
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ( 23788249 )
2013
36
Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. ( 23918944 )
2013
37
NSGC practice guideline: risk assessment and genetic counseling for hereditary breast and ovarian cancer. ( 23188549 )
2013
38
A Pilot study of the Sharing Risk Information Tool (ShaRIT) for Families with Hereditary Breast and Ovarian Cancer Syndrome. ( 22494806 )
2012
39
An overview of hereditary breast and ovarian cancer syndrome. ( 23050669 )
2012
40
A pilot study of knowledge and interest of genetic counseling and testing for hereditary breast and ovarian cancer syndrome among Puerto Rican women. ( 22109874 )
2011
41
Prevalence of the BRCA1 founder mutation c.5266dupin Brazilian individuals at-risk for the hereditary breast and ovarian cancer syndrome. ( 22185575 )
2011
42
Hereditary breast-ovarian cancer syndrome in Russia. ( 22649661 )
2010
43
Hereditary breast and ovarian cancer syndrome and issues in pediatric and adolescent practice. ( 20632459 )
2010
44
Preconception counseling for the couple at risk preventing the hereditary breast and ovarian cancer syndrome. ( 20975358 )
2010
45
American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. ( 20065170 )
2010
46
Identification and management of women at high risk for hereditary breast/ovarian cancer syndrome. ( 19292801 )
2009
47
Hereditary breast and ovarian cancer syndrome : the impact of race on uptake of genetic counseling and testing. ( 19109796 )
2009
48
Survivorship considerations in adults with hereditary breast and ovarian cancer syndrome: state of the science. ( 19165605 )
2009
49
ACOG Practice Bulletin No. 103: Hereditary breast and ovarian cancer syndrome. ( 19305347 )
2009
50
Hereditary breast and ovarian cancer syndrome. ( 19309638 )
2009
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 13763)
# Gene Variation Type Significance SNP ID Assembly Location
1 CHEK2 NM_007194.4(CHEK2): c.1283C> T (p.Ser428Phe) single nucleotide variant risk factor rs137853011 GRCh37 Chromosome 22, 29091207: 29091207
2 CHEK2 NM_007194.4(CHEK2): c.1283C> T (p.Ser428Phe) single nucleotide variant risk factor rs137853011 GRCh38 Chromosome 22, 28695219: 28695219
3 BRCA2 NM_000059.3(BRCA2): c.7004_7007+2delTTCGGT deletion Pathogenic rs397507890 GRCh37 Chromosome 13, 32921030: 32921035
4 BRCA2 NM_000059.3(BRCA2): c.7004_7007+2delTTCGGT deletion Pathogenic rs397507890 GRCh38 Chromosome 13, 32346893: 32346898
5 BRCA2 NM_000059.3(BRCA2): c.6275_6276delTT (p.Leu2092Profs) deletion Pathogenic rs11571658 GRCh37 Chromosome 13, 32914767: 32914768
6 BRCA2 NM_000059.3(BRCA2): c.6275_6276delTT (p.Leu2092Profs) deletion Pathogenic rs11571658 GRCh38 Chromosome 13, 32340630: 32340631
7 BRCA2 NM_000059.3(BRCA2): c.6591_6592delTG (p.Glu2198Asnfs) deletion Pathogenic rs80359605 GRCh37 Chromosome 13, 32915083: 32915084
8 BRCA2 NM_000059.3(BRCA2): c.6591_6592delTG (p.Glu2198Asnfs) deletion Pathogenic rs80359605 GRCh38 Chromosome 13, 32340946: 32340947
9 BRCA2 NM_000059.3(BRCA2): c.5722_5723delCT (p.Leu1908Argfs) deletion Pathogenic rs80359530 GRCh37 Chromosome 13, 32914214: 32914215
10 BRCA2 NM_000059.3(BRCA2): c.5722_5723delCT (p.Leu1908Argfs) deletion Pathogenic rs80359530 GRCh38 Chromosome 13, 32340077: 32340078
11 BRCA2 NM_000059.3(BRCA2): c.2808_2811del (p.Ala938Profs) deletion Pathogenic rs80359351 GRCh37 Chromosome 13, 32911300: 32911303
12 BRCA2 NM_000059.3(BRCA2): c.2808_2811del (p.Ala938Profs) deletion Pathogenic rs80359351 GRCh38 Chromosome 13, 32337163: 32337166
13 BRCA2 NM_000059.3(BRCA2): c.5946delT (p.Ser1982Argfs) deletion Pathogenic rs80359550 GRCh37 Chromosome 13, 32914438: 32914438
14 BRCA2 NM_000059.3(BRCA2): c.5946delT (p.Ser1982Argfs) deletion Pathogenic rs80359550 GRCh38 Chromosome 13, 32340301: 32340301
15 BRCA2 NM_000059.3(BRCA2): c.771_775delTCAAA (p.Asn257Lysfs) deletion Pathogenic rs80359671 GRCh37 Chromosome 13, 32905145: 32905149
16 BRCA2 NM_000059.3(BRCA2): c.771_775delTCAAA (p.Asn257Lysfs) deletion Pathogenic rs80359671 GRCh38 Chromosome 13, 32331008: 32331012
17 BRCA2 NM_000059.3(BRCA2): c.8537_8538delAG (p.Glu2846Glyfs) deletion Pathogenic rs80359714 GRCh37 Chromosome 13, 32945142: 32945143
18 BRCA2 NM_000059.3(BRCA2): c.8537_8538delAG (p.Glu2846Glyfs) deletion Pathogenic rs80359714 GRCh38 Chromosome 13, 32371005: 32371006
19 BRCA2 NM_000059.3(BRCA2): c.1114A> C (p.Asn372His) single nucleotide variant Benign rs144848 GRCh37 Chromosome 13, 32906729: 32906729
20 BRCA2 NM_000059.3(BRCA2): c.1114A> C (p.Asn372His) single nucleotide variant Benign rs144848 GRCh38 Chromosome 13, 32332592: 32332592
21 BRCA2 NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs) deletion Pathogenic rs80359604 GRCh37 Chromosome 13, 32903606: 32903607
22 BRCA2 NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs) deletion Pathogenic rs80359604 GRCh38 Chromosome 13, 32329469: 32329470
23 BRCA2 NM_000059.3(BRCA2): c.4648G> T (p.Glu1550Ter) single nucleotide variant Pathogenic rs80358695 GRCh37 Chromosome 13, 32913140: 32913140
24 BRCA2 NM_000059.3(BRCA2): c.4648G> T (p.Glu1550Ter) single nucleotide variant Pathogenic rs80358695 GRCh38 Chromosome 13, 32339003: 32339003
25 BRCA2 NM_000059.3(BRCA2): c.5645C> G (p.Ser1882Ter) single nucleotide variant Pathogenic rs80358785 GRCh37 Chromosome 13, 32914137: 32914137
26 BRCA2 NM_000059.3(BRCA2): c.5645C> G (p.Ser1882Ter) single nucleotide variant Pathogenic rs80358785 GRCh38 Chromosome 13, 32340000: 32340000
27 BRCA2 NM_000059.3(BRCA2): c.9196C> T (p.Gln3066Ter) single nucleotide variant Pathogenic rs80359180 GRCh37 Chromosome 13, 32954222: 32954222
28 BRCA2 NM_000059.3(BRCA2): c.9196C> T (p.Gln3066Ter) single nucleotide variant Pathogenic rs80359180 GRCh38 Chromosome 13, 32380085: 32380085
29 BRCA2 NM_000059.3(BRCA2): c.631+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs81002897 GRCh37 Chromosome 13, 32900751: 32900751
30 BRCA2 NM_000059.3(BRCA2): c.631+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs81002897 GRCh38 Chromosome 13, 32326614: 32326614
31 BRCA2 NM_000059.3(BRCA2): c.631+2T> G single nucleotide variant Pathogenic rs81002899 GRCh37 Chromosome 13, 32900752: 32900752
32 BRCA2 NM_000059.3(BRCA2): c.631+2T> G single nucleotide variant Pathogenic rs81002899 GRCh38 Chromosome 13, 32326615: 32326615
33 BRCA1 NM_007294.3(BRCA1): c.190T> G (p.Cys64Gly) single nucleotide variant Pathogenic rs80357064 GRCh37 Chromosome 17, 41258495: 41258495
34 BRCA1 NM_007294.3(BRCA1): c.190T> G (p.Cys64Gly) single nucleotide variant Pathogenic rs80357064 GRCh38 Chromosome 17, 43106478: 43106478
35 BRCA1 NM_007294.3(BRCA1): c.181T> G (p.Cys61Gly) single nucleotide variant Pathogenic rs28897672 GRCh37 Chromosome 17, 41258504: 41258504
36 BRCA1 NM_007294.3(BRCA1): c.181T> G (p.Cys61Gly) single nucleotide variant Pathogenic rs28897672 GRCh38 Chromosome 17, 43106487: 43106487
37 BRCA1 NM_007294.3(BRCA1): c.68_69delAG (p.Glu23Valfs) deletion Pathogenic rs80357914 GRCh37 Chromosome 17, 41276047: 41276048
38 BRCA1 NM_007294.3(BRCA1): c.68_69delAG (p.Glu23Valfs) deletion Pathogenic rs80357914 GRCh38 Chromosome 17, 43124030: 43124031
39 BRCA1 NM_007294.3(BRCA1): c.1175_1214del40 (p.Leu392Glnfs) deletion Pathogenic rs80359874 GRCh37 Chromosome 17, 41246334: 41246373
40 BRCA1 NM_007294.3(BRCA1): c.1175_1214del40 (p.Leu392Glnfs) deletion Pathogenic rs80359874 GRCh38 Chromosome 17, 43094317: 43094356
41 BRCA1 NM_007294.3(BRCA1): c.2296_2297delAG (p.Ser766Terfs) deletion Pathogenic rs80357780 GRCh37 Chromosome 17, 41245251: 41245252
42 BRCA1 NM_007294.3(BRCA1): c.2296_2297delAG (p.Ser766Terfs) deletion Pathogenic rs80357780 GRCh38 Chromosome 17, 43093234: 43093235
43 BRCA1 NM_007294.3(BRCA1): c.2681_2682delAA (p.Lys894Thrfs) deletion Pathogenic rs80357971 GRCh37 Chromosome 17, 41244866: 41244867
44 BRCA1 NM_007294.3(BRCA1): c.2681_2682delAA (p.Lys894Thrfs) deletion Pathogenic rs80357971 GRCh38 Chromosome 17, 43092849: 43092850
45 BRCA1 NM_007294.3(BRCA1): c.3005delA (p.Asn1002Thrfs) deletion Pathogenic rs80357601 GRCh38 Chromosome 17, 43092526: 43092526
46 BRCA1 NM_007294.3(BRCA1): c.3005delA (p.Asn1002Thrfs) deletion Pathogenic rs80357601 GRCh37 Chromosome 17, 41244543: 41244543
47 BRCA1 NM_007294.3(BRCA1): c.3119G> A (p.Ser1040Asn) single nucleotide variant Benign rs4986852 GRCh37 Chromosome 17, 41244429: 41244429
48 BRCA1 NM_007294.3(BRCA1): c.3119G> A (p.Ser1040Asn) single nucleotide variant Benign rs4986852 GRCh38 Chromosome 17, 43092412: 43092412
49 BRCA1 NM_007294.3(BRCA1): c.3607C> T (p.Arg1203Ter) single nucleotide variant Pathogenic rs62625308 GRCh37 Chromosome 17, 41243941: 41243941
50 BRCA1 NM_007294.3(BRCA1): c.3607C> T (p.Arg1203Ter) single nucleotide variant Pathogenic rs62625308 GRCh38 Chromosome 17, 43091924: 43091924
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 44)
# Super pathways Score Top Affiliating Genes
1
Gene Expression 67
Show member pathways
 13.84 ATM BARD1 BRCA1 BRIP1 CHEK2 MLH1
2
Cell Cycle, Mitotic 67
Show member pathways
 13.55 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
3
DNA Double-Strand Break Repair 67
Show member pathways
 13.38 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
4
Regulation of TP53 Activity 67
Show member pathways
 13.12 ATM BARD1 BRCA1 BRIP1 CHEK2 MLH1
5
TCR Signaling (Qiagen) 65
Show member pathways
 13.02 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
6
Endometrial cancer 38
Show member pathways
 12.89 BRCA2 MLH1 MSH6 PTEN RAD51 TP53
7
Pathways in cancer 38
12.86 BRCA2 MLH1 MSH6 PTEN RAD51 TP53
8
Chks in Checkpoint Regulation 65
Show member pathways
 12.86 ATM BARD1 BRCA1 BRCA2 CHEK2 MRE11
9
Cell Cycle Checkpoints 67
Show member pathways
 12.81 ATM BARD1 BRCA1 BRIP1 CHEK2 MRE11
10
Gastric cancer 38
Show member pathways
 12.74 BRCA1 BRCA2 MLH1 PTEN TP53
11
Glioma 38
Show member pathways
 12.73 ATM BRCA1 BRCA2 MSH6 PTEN TP53
12
Meiosis 67
Show member pathways
 12.66 ATM BRCA1 BRCA2 MLH1 MRE11 NBN
13
DNA Damage 4
12.65 ATM BRCA1 BRCA2 BRIP1 CHEK2 MLH1
14
DNA Damage Response 1
Show member pathways
 12.56 ATM BRCA1 CHEK2 MRE11 NBN PTEN
15
DNA Double Strand Break Response 67
Show member pathways
 12.55 ATM BARD1 BRCA1 CHEK2 MRE11 NBN
16
MicroRNAs in cancer 38
12.47 ATM BRCA1 PTEN TP53
17
Homologous DNA Pairing and Strand Exchange 67
Show member pathways
 12.45 ATM BARD1 BRCA1 BRCA2 BRIP1 MRE11
18
DNA Damage/Telomere Stress Induced Senescence 67
Show member pathways
 12.4 ATM MRE11 NBN RAD50 TP53
19
Cellular senescence (KEGG) 38
12.35 ATM CHEK2 MRE11 NBN PTEN RAD50
20
p53 Signaling 65
Show member pathways
 12.31 ATM BRCA1 CHEK2 PTEN TP53
21
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) 67
Show member pathways
 12.28 ATM BARD1 BRCA1 BRCA2 BRIP1 MRE11
22
Integrated Breast Cancer Pathway 1
12.08 ATM BARD1 BRCA1 BRCA2 CHEK2 MRE11
23
Fanconi anemia pathway 38 67
12.07 BRCA1 BRCA2 BRIP1 MLH1 PALB2 RAD51
24
ATM Pathway 65
Show member pathways
 12.04 ATM BRCA1 CHEK2 MRE11 NBN RAD50
25
DNA Damage Response (only ATM dependent) 1
11.93 ATM PTEN TP53
26
BRCA1 Pathway 65
Show member pathways
 11.92 ATM BARD1 BRCA1 BRCA2 CHEK2 MRE11
27
Platinum drug resistance 38
11.88 ATM BRCA1 MLH1 MSH6 TP53
28
DNA damage_Role of Brca1 and Brca2 in DNA repair 23
11.87 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
29
Pathways Affected in Adenoid Cystic Carcinoma 1
11.83 ATM BRCA1 CHEK2 PTEN TP53
30
Retinoblastoma (RB) in Cancer 1
11.81 BARD1 MSH6 TP53
31
Regulation of Telomerase 1
11.76 ATM MRE11 NBN RAD50
32
Regulation of TP53 Expression and Degradation 67
Show member pathways
 11.72 ATM CHEK2 TP53
33
DNA damage_ATM/ATR regulation of G1/S checkpoint 23
11.69 ATM BARD1 BRCA1 CHEK2 NBN TP53
34
ATM Signaling Network in Development and Disease 1
11.67 ATM CHEK2 MRE11 NBN RAD50
35
p53 pathway 1
11.62 ATM CHEK2 TP53
36
Cell cycle Role of 14-3-3 proteins in cell cycle regulation 23
Show member pathways
 11.5 ATM CHEK2 TP53
37
GADD45 Pathway 65
11.34 ATM BRCA1 TP53
38
DNA damage_NHEJ mechanisms of DSBs repair 23
11.31 BRCA1 MRE11 NBN RAD50
39
Integrated Cancer Pathway 1
11.27 ATM BARD1 BRCA1 CHEK2 MRE11 MSH6
40
Telomere Extension by Telomerase 65
Show member pathways
 11.18 MRE11 NBN RAD50
41
DDX1 as a regulatory component of the Drosha microprocessor 1
Show member pathways
 11.12 ATM MRE11 NBN RAD50
42
DNA Damage Induced 14-3-3Sigma Signaling 65
11.1 ATM BRCA1 TP53
43
BARD1 signaling events 1
10.69 ATM BARD1 BRCA1 MRE11 NBN RAD50
44
PLK3 signaling events 1
10.37 CHEK2 TP53
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 17)
# Name GO ID Score Top Affiliating Genes
1 chromosome GO:0005694 9.91 BRCA1 MLH1 MRE11 MSH6 NBN RAD50
2 nuclear chromatin GO:0000790 9.86 MSH6 RAD50 RAD51 TP53
3 site of double-strand break GO:0035861 9.76 MRE11 NBN RAD50 RAD51
4 condensed nuclear chromosome GO:0000794 9.73 BRCA1 MLH1 RAD50 RAD51
5 PML body GO:0016605 9.73 CHEK2 MRE11 NBN PTEN RAD51 TP53
6 condensed chromosome GO:0000793 9.7 BRCA1 MLH1 RAD51
7 replication fork GO:0005657 9.67 NBN RAD51C RAD51D
8 lateral element GO:0000800 9.65 BRCA1 BRCA2 RAD51
9 chromosome, telomeric region GO:0000781 9.63 ATM CHEK2 MRE11 NBN RAD50 RAD51D
10 Mre11 complex GO:0030870 9.58 MRE11 NBN RAD50
11 mismatch repair complex GO:0032300 9.57 MLH1 MSH6
12 BRCA1-A complex GO:0070531 9.55 BARD1 BRCA1
13 nucleoplasm GO:0005654 9.55 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
14 Rad51B-Rad51C-Rad51D-XRCC2 complex GO:0033063 9.54 RAD51C RAD51D
15 BRCA1-BARD1 complex GO:0031436 9.51 BARD1 BRCA1
16 nuclear chromosome, telomeric region GO:0000784 9.5 ATM BRCA2 MRE11 NBN RAD50 RAD51
17 nucleus GO:0005634 10.25 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2

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

(show top 50) (show all 53)
# Name GO ID Score Top Affiliating Genes
1 double-strand break repair GO:0006302 9.98 BRCA1 BRCA2 BRIP1 CHEK2 MRE11 NBN
2 meiotic cell cycle GO:0051321 9.97 MLH1 MRE11 NBN RAD50 RAD51
3 DNA recombination GO:0006310 9.97 BRCA1 BRCA2 MRE11 PALB2 RAD50 RAD51
4 cell cycle arrest GO:0007050 9.96 ATM BARD1 NBN TP53
5 double-strand break repair via nonhomologous end joining GO:0006303 9.95 ATM BARD1 BRCA1 MLH1 MRE11 NBN
6 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.93 ATM BRCA1 BRCA2 CHEK2 MLH1 MSH6
7 telomere maintenance GO:0000723 9.91 ATM MRE11 NBN RAD50 RAD51D
8 DNA duplex unwinding GO:0032508 9.89 BRIP1 MRE11 NBN RAD50
9 regulation of signal transduction by p53 class mediator GO:1901796 9.87 ATM CHEK2 TP53
10 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.86 ATM CHEK2 TP53
11 DNA damage checkpoint GO:0000077 9.86 ATM BRIP1 CHEK2 NBN
12 interstrand cross-link repair GO:0036297 9.85 MSH6 RAD51 RAD51D
13 nucleotide-excision repair GO:0006289 9.85 BRCA2 BRIP1 TP53
14 intrinsic apoptotic signaling pathway GO:0097193 9.83 MSH6 NBN TP53
15 chromosome organization GO:0051276 9.83 BRCA2 MRE11 RAD51D
16 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.83 BRCA1 BRCA2 CHEK2 TP53
17 DNA repair GO:0006281 9.83 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
18 response to gamma radiation GO:0010332 9.82 BRCA2 CHEK2 TP53
19 cellular response to gamma radiation GO:0071480 9.82 ATM CHEK2 TP53
20 synapsis GO:0007129 9.81 BRIP1 MLH1 MRE11
21 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.81 BRCA2 CHEK2 TP53
22 positive regulation of protein autophosphorylation GO:0031954 9.8 MRE11 NBN RAD50
23 telomere maintenance via recombination GO:0000722 9.8 BRCA2 RAD50 RAD51 RAD51C
24 DNA double-strand break processing GO:0000729 9.8 ATM BARD1 BRCA1 MRE11 NBN RAD50
25 reciprocal meiotic recombination GO:0007131 9.8 ATM MLH1 MRE11 RAD50 RAD51 RAD51C
26 positive regulation of kinase activity GO:0033674 9.79 MRE11 NBN RAD50
27 mitotic G2 DNA damage checkpoint GO:0007095 9.79 MRE11 MSH6 NBN
28 isotype switching GO:0045190 9.78 MLH1 MSH6 NBN
29 replicative senescence GO:0090399 9.77 ATM CHEK2 TP53
30 positive regulation of telomere maintenance GO:0032206 9.76 MRE11 NBN RAD50
31 negative regulation of telomere capping GO:1904354 9.72 ATM NBN RAD50
32 somatic hypermutation of immunoglobulin genes GO:0016446 9.71 MLH1 MSH6
33 DNA damage response, signal transduction by p53 class mediator GO:0030330 9.71 NBN TP53
34 determination of adult lifespan GO:0008340 9.71 MSH6 TP53
35 inner cell mass cell proliferation GO:0001833 9.71 BRCA2 PALB2
36 telomeric 3' overhang formation GO:0031860 9.71 MRE11 NBN RAD50
37 signal transduction in response to DNA damage GO:0042770 9.7 CHEK2 NBN
38 DNA damage induced protein phosphorylation GO:0006975 9.7 ATM CHEK2
39 protein K6-linked ubiquitination GO:0085020 9.69 BARD1 BRCA1
40 chromosome organization involved in meiotic cell cycle GO:0070192 9.69 RAD50 RAD51
41 negative regulation of DNA endoreduplication GO:0032876 9.69 MRE11 MSH6
42 chordate embryonic development GO:0043009 9.67 BRCA1 BRCA2
43 regulation of mitotic recombination GO:0000019 9.67 MRE11 RAD50
44 somatic recombination of immunoglobulin gene segments GO:0016447 9.67 MLH1 MSH6
45 strand invasion GO:0042148 9.66 RAD51 RAD51D
46 mitotic recombination-dependent replication fork processing GO:1990426 9.63 BRCA2 RAD51
47 double-strand break repair via homologous recombination GO:0000724 9.28 BRCA1 BRCA2 MRE11 NBN PALB2 RAD50
48 cell cycle GO:0007049 10.17 ATM BRCA1 BRCA2 CHEK2 MLH1 NBN
49 negative regulation of apoptotic process GO:0043066 10.11 BARD1 MRE11 PALB2 PTEN TP53
50 cell proliferation GO:0008283 10.08 BRCA2 MRE11 NBN PTEN TP53

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 ATP binding GO:0005524 9.96 ATM BRIP1 CHEK2 MLH1 MSH6 RAD50
2 chromatin binding GO:0003682 9.92 BRIP1 MLH1 MSH6 RAD51 TP53
3 nucleotide binding GO:0000166 9.91 ATM BRIP1 CHEK2 RAD50 RAD51
4 enzyme binding GO:0019899 9.85 BRCA1 MLH1 MSH6 PTEN RAD51 TP53
5 protein N-terminus binding GO:0047485 9.75 ATM NBN TP53
6 damaged DNA binding GO:0003684 9.71 BRCA1 MSH6 NBN
7 single-stranded DNA binding GO:0003697 9.71 BRCA2 MLH1 RAD51 RAD51D
8 mismatched DNA binding GO:0030983 9.57 MLH1 MSH6
9 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.55 MRE11 RAD50
10 four-way junction DNA binding GO:0000400 9.5 MSH6 RAD51C RAD51D
11 guanine/thymine mispair binding GO:0032137 9.49 MLH1 MSH6
12 DNA-dependent ATPase activity GO:0008094 9.46 MSH6 RAD51 RAD51C RAD51D
13 DNA binding GO:0003677 9.4 ATM BRCA1 BRCA2 BRIP1 MRE11 MSH6
14 double-stranded telomeric DNA binding GO:0003691 9.26 RAD50
15 ATP-dependent DNA helicase activity GO:0004003 9.26 BRIP1 MRE11 NBN RAD50
16 single-stranded telomeric DNA binding GO:0043047 9.18 RAD50
17 protein binding GO:0005515 10.36 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
18 identical protein binding GO:0042802 10 BRCA1 BRCA2 CHEK2 MRE11 PTEN RAD51
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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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