BRCA1
MCID: HRD004
MIFTS: 44

Hereditary Breast Ovarian Cancer (BRCA1) malady

Genetic diseases, Cancer diseases, Reproductive diseases, Rare diseases categories

Summaries for Hereditary Breast Ovarian Cancer

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48OMIM, 34MalaCards
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MalaCards: Hereditary Breast Ovarian Cancer, also known as familial breast and ovarian cancer syndrome, is related to breast cancer and ovarian cancer. An important gene associated with Hereditary Breast Ovarian Cancer is BRCA1 (breast cancer 1, early onset), and among its related pathways are Prostate cancer and Integrated Breast Cancer Pathway. The compounds 17beta-hydroxysteroid and 8-oxoguanine have been mentioned in the context of this disorder. Affiliated tissues include breast, testes and heart, and related mouse phenotypes are behavior/neurological and embryogenesis.

Description from OMIM:48 604370,612555

Aliases & Classifications for Hereditary Breast Ovarian Cancer

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Sources:
9Disease Ontology, 11DISEASES, 48OMIM, 63UMLS, 41NCIt
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Classifications:



Aliases & Descriptions:

hereditary breast ovarian cancer 9 11
familial breast and ovarian cancer syndrome 9
brca1 9
brca2 9


External Ids:

Disease Ontology9 DOID:5683
NCIt41 C8493

Related Diseases for Hereditary Breast Ovarian Cancer

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Sources:
18GeneCards, 19GeneDecks
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Diseases in the Breast-Ovarian Cancer, Familial, 2 family:

hereditary breast ovarian cancer Rad51c-Related Familial Susceptibility to Breast-Ovarian Cancer
Rad51d-Related Familial Susceptibility to Breast-Ovarian Cancer Breast-Ovarian Cancer, Familial 4
Breast-Ovarian Cancer, Familial, 1 Breast-Ovarian Cancer, Familial 3

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

(show top 50)    (show all 136)
idRelated DiseaseScoreTop Affiliating Genes
1breast cancer31.8HSD17B2, BRCA2, BRCA1
2ovarian cancer31.6BRCA1, BRCA2
3bilateral breast cancer30.6BRCA2, BRCA1
4male breast cancer30.6BRCA2, BRCA1
5brca1 and brca2 hereditary breast and ovarian cancer30.5BRCA2, BRCA1
6fanconi's anemia30.5BRCA1, BRCA2
7fallopian tube cancer30.5BRCA2, BRCA1
8ataxia telangiectasia30.4BRCA2, BRCA1
9peritoneal carcinoma30.4BRCA1, BRCA2
10li-fraumeni syndrome30.4BRCA2, BRCA1
11cowden disease30.3BRCA2, BRCA1
12ductal carcinoma in situ30.3BRCA1, BRCA2
13lynch syndrome30.2BRCA1, BRCA2
14dysgerminoma30.0BRCA1, BRCA2
15gynecomastia30.0BRCA1, BRCA2
16bloom syndrome30.0BRCA2, BRCA1
17breast-ovarian cancer, familial, 229.8BRCA2, HSD17B2
18endometrial carcinoma29.7BRCA2, BRCA1
19retinoblastoma29.7BRCA2, BRCA1
20sporadic breast cancer10.8
21breast cancer susceptibility10.7
22familial breast cancer10.7
23prostatitis10.7
24prostate cancer10.7
25breast cancer, invasive ductal10.6
26breast cancer, protection against10.6
27breast cancer, lobular10.6
28breast cancer, early-onset10.6
29lung cancer10.5
30fanconi anemia, complementation group d110.4
31cystadenoma10.3
32ataxia10.3
33ovarian cystadenoma10.3
34ovarian cancer, somatic10.3
35ocular melanoma10.3
36peritonitis10.2
37mutagen sensitivity10.2
38hypoxia10.2
39breast-ovarian cancer, familial, 110.2
40papillary serous adenocarcinoma10.2
41huntington's disease10.2
42adenocarcinoma10.2
43colorectal cancer10.2
44pancreatic cancer10.2
45pancreatitis10.2
46pancreatic carcinoma, somatic10.2
47breast reconstruction10.2
48premature menopause10.2
49melanoma10.2
50breast cancer, somatic10.2

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



Diseases related to hereditary breast ovarian cancer

Symptoms for Hereditary Breast Ovarian Cancer

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Sources:
48OMIM
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Clinical features from OMIM:

604370,612555

Drugs & Therapeutics for Hereditary Breast Ovarian Cancer

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Hereditary Breast Ovarian Cancer

Drug clinical trials:

Search ClinicalTrials for Hereditary Breast Ovarian Cancer

Search NIH Clinical Center for Hereditary Breast Ovarian Cancer

Search CenterWatch for Hereditary Breast Ovarian Cancer

Genetic Tests for Hereditary Breast Ovarian Cancer

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Anatomical Context for Hereditary Breast Ovarian Cancer

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34MalaCards
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MalaCards organs/tissues related to Hereditary Breast Ovarian Cancer:

34
Breast, Testes, Heart, Ovary

Animal Models for Hereditary Breast Ovarian Cancer or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Hereditary Breast Ovarian Cancer:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.5BRCA1, BRCA2, HSD17B2
2MP:00053808.2BRCA1, BRCA2, HSD17B2

Publications for Hereditary Breast Ovarian Cancer

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53PubMed
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Articles related to Hereditary Breast Ovarian Cancer:

(show top 50)    (show all 65)
idTitleAuthorsYear
1
Genetic counseling does not fulfill the counselees' need for certainty in hereditary breast/ovarian cancer families: an explorative assessment. (22777929)
2013
2
Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases. (23935836)
2013
3
Hereditary breast/ovarian cancer syndrome: a primer for obstetricians/gynecologists. (24021253)
2013
4
Unpacking the blockers: understanding perceptions and social constraints of health communication in hereditary breast ovarian cancer (HBOC) susceptibility families. (21547418)
2011
5
Comprehensive genetic characterization of hereditary breast/ovarian cancer families from Slovakia. (21203900)
2011
6
Hereditary breast-ovarian cancer syndrome in Russia. (22649661)
2010
7
Coronary heart disease risk profile in women who underwent salpingo-oophorectomy to prevent hereditary breast ovarian cancer. (20169665)
2010
8
Hereditary breast ovarian cancer syndromes in the Maritimes. (20181317)
2010
9
Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control. (23199084)
2010
10
Metabolic syndrome after risk-reducing salpingo-oophorectomy in women at high risk for hereditary breast ovarian cancer: a controlled observational study. (19008092)
2009
11
The prevalence of hereditary breast/ovarian cancer risk in patients with a history of breast or ovarian cancer in Japanese subjects. (20149041)
2009
12
Brief assessment of parents' attitudes toward testing minor children for hereditary breast/ovarian cancer genes: development and validation of the Pediatric BRCA1/2 Testing Attitudes Scale (P-TAS). (18385162)
2009
13
A controlled study of mental distress and somatic complaints after risk-reducing salpingo-oophorectomy in women at risk for hereditary breast ovarian cancer. (19178933)
2009
14
Fatigue and quality of life after risk-reducing salpingo-oophorectomy in women at increased risk for hereditary breast-ovarian cancer. (19820364)
2009
15
Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy. (18821011)
2009
16
BRCA1 and BRCA2 risk perceptions among African American women at increased risk for hereditary breast-ovarian cancer. (18417966)
2008
17
Cross-sectional analysis of germline BRCA1 and BRCA2 mutations in Japanese patients suspected to have hereditary breast/ovarian cancer. (19016756)
2008
18
Hereditary breast/ovarian cancer: clinicopathological characteristics and survival of BRCA2 positive and negative cases. (19066131)
2008
19
Psychological and cancer-specific distress at 18 months post-testing in women with demonstrated BRCA1 mutations for hereditary breast/ovarian cancer. (18219587)
2008
20
Hereditary breast-ovarian cancer: clinical findings and medical management. (17901820)
2007
21
A novel BRCA1 mutation in an Indian family with hereditary breast/ovarian cancer. (17131039)
2007
22
Patient responses to the disclosure of BRCA mutation tests in hereditary breast-ovarian cancer families. (16527602)
2006
23
Germline mutations of BRCA1 in two Korean hereditary breast/ovarian cancer families. (16465413)
2006
24
Low rates of acceptance of BRCA1 and BRCA2 test results among African American women at increased risk for hereditary breast-ovarian cancer. (16980814)
2006
25
Clinical, molecular and geographical features of hereditary breast/ovarian cancer in latvia. (20223033)
2005
26
Hereditary Breast-Ovarian Cancer Team of the University Medical Centre Groningen (UMCG) - a Report. (20223045)
2005
27
Re: "Intra-abdominal carcinomatosis after prophylactic oophorectomy in women of hereditary breast ovarian cancer syndrome kindreds associated with BRCA1 and BRCA2 mutations". (16188301)
2005
28
Surveillance behavior and prophylactic surgery after predictive testing for hereditary breast/ovarian cancer. (16252621)
2005
29
The effect of experiential knowledge on construction of risk perception in hereditary breast/ovarian cancer. (15789156)
2005
30
Prevalence of five previously reported and recurrent BRCA1 genetic rearrangement mutations in 20,000 patients from hereditary breast/ovarian cancer families. (15846789)
2005
31
Intra-abdominal carcinomatosis after prophylactic oophorectomy in women of hereditary breast ovarian cancer syndrome kindreds associated with BRCA1 and BRCA2 mutations. (15863145)
2005
32
Advocate's Viewpoint on Hereditary Breast/Ovarian Cancer. (20233464)
2004
33
Carrier risk status changes resulting from mutation testing in hereditary non-polyposis colorectal cancer and hereditary breast-ovarian cancer. (12920070)
2003
34
Hereditary breast-ovarian cancer at the bedside: role of the medical oncologist. (12586815)
2003
35
Contribution of BRCA2 germline mutations to hereditary breast/ovarian cancer in Germany. (11897832)
2002
36
Genetic counseling in hereditary breast/ovarian cancer in Israel: psychosocial impact and retention of genetic information. (12210341)
2002
37
Hereditary breast/ovarian cancer--pitfalls in genetic counseling. (11683778)
2001
38
Men at risk of being a mutation carrier for hereditary breast/ovarian cancer: an exploration of attitudes and psychological functioning during genetic testing. (11464240)
2001
39
Histology of prophylactically removed ovaries from BRCA1 and BRCA2 mutation carriers compared with noncarriers in hereditary breast ovarian cancer syndrome kindreds. (10985881)
2000
40
Physicians' attitudes towards mammography and prophylactic surgery for hereditary breast/ovarian cancer risk and subsequently published guidelines. (10780786)
2000
41
Congress report of the Sixth International Meeting on Psychosocial Aspects of Hereditary Breast/Ovarian Cancer Genetic Testing. (11180590)
2000
42
Attitudes toward prophylactic oophorectomy and screening utilization in women at increased risk of developing hereditary breast/ovarian cancer. (10502438)
1999
43
Acceptable strategies for dealing with hereditary breast/ovarian cancer risk. (9168189)
1997
44
German family study on hereditary breast-ovarian cancer. (8863152)
1996
45
BRCA1 testing in families with hereditary breast-ovarian cancer. A prospective study of patient decision making and outcomes. (8648868)
1996
46
Insurance adjudication favoring prophylactic surgery in hereditary breast-ovarian cancer syndrome. (7705697)
1995
47
Splice-site mutation of the p53 gene in a family with hereditary breast-ovarian cancer. (8302608)
1994
48
The human insulin-like growth factor-binding protein 4 gene maps to chromosome region 17q12-q21.1 and is close to the gene for hereditary breast-ovarian cancer. (7507078)
1993
49
Hereditary breast-ovarian cancer: how can we use the new DNA markers to improve patient management? (8306541)
1993
50
Genetic counselling and hereditary breast ovarian cancer. (1349410)
1992

Variations for Hereditary Breast Ovarian Cancer

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Expression for genes affiliated with Hereditary Breast Ovarian Cancer

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hereditary Breast Ovarian Cancer

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

Pathways for genes affiliated with Hereditary Breast Ovarian Cancer

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Sources:
51PathCards, 31KEGG, 39NCBI BioSystems Database, 54QIAGEN, 5Cell Signaling Technology, 13EMD Millipore, 56Reactome, 61Thomson Reuters
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Pathways related to Hereditary Breast Ovarian Cancer according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Prostate Cancer39
Integrated Cancer pathway39
Steroid Biosynthesis39
9.3BRCA1, HSD17B2
29.0BRCA1, BRCA2
3
Show member pathways
9.0BRCA2, BRCA1
4
Show member pathways
Signaling Pathways in Glioblastoma39
9.0BRCA1, BRCA2
5
Show member pathways
9.0BRCA1, BRCA2
69.0BRCA1, BRCA2
7
Show member pathways
9.0BRCA1, BRCA2
8
Show member pathways
9.0BRCA2, BRCA1
9
Show member pathways
9.0BRCA1, BRCA2
109.0BRCA1, BRCA2
119.0BRCA2, BRCA1
12
Show member pathways
9.0BRCA1, BRCA2
13
Show member pathways
9.0BRCA1, BRCA2

Compounds for genes affiliated with Hereditary Breast Ovarian Cancer

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Sources:
46Novoseek, 25HMDB, 12DrugBank, 52PharmGKB, 62Tocris Bioscience, 30IUPHAR, 3BitterDB
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Compounds related to Hereditary Breast Ovarian Cancer according to GeneCards/GeneDecks:

(show all 35)
idCompoundScoreTop Affiliating Genes
117beta-hydroxysteroid469.7BRCA1, HSD17B2
28-oxoguanine469.4BRCA2, BRCA1
3daidzein469.4BRCA2, BRCA1
4lycopene46 2510.4BRCA1, BRCA2
5indole-3-carbinol469.4BRCA1, BRCA2
6methylmethanesulfonate469.4BRCA1, BRCA2
74-hydroxytamoxifen469.4BRCA2, BRCA1
8bleomycin46 1210.4BRCA1, BRCA2
9adpribose469.4BRCA1, BRCA2
10hydroxyurea46 52 1211.4BRCA1, BRCA2
11mitomycin c469.4BRCA2, BRCA1
12p003469.4BRCA1, BRCA2
13vincristine46 52 1211.3BRCA1, BRCA2
14p002469.3BRCA2, BRCA1
15resveratrol46 62 25 1212.3BRCA1, BRCA2
16adriamycin469.3BRCA2, BRCA1
17gold469.3BRCA1, BRCA2
18camptothecin46 62 1211.3BRCA1, BRCA2
19docetaxel46 52 62 1212.3BRCA1, BRCA2
20folate469.3BRCA2, BRCA1
21methotrexate52 46 1211.2BRCA1, BRCA2
22polyacrylamide469.2BRCA1, BRCA2
23etoposide46 52 62 1212.2BRCA2, BRCA1
24tamoxifen46 52 30 1212.1BRCA1, BRCA2
25paclitaxel46 52 1211.1BRCA2, BRCA1
26paraffin469.0BRCA1, BRCA2
27glutamine469.0BRCA1, BRCA2
28genistein46 30 62 3 25 1213.9BRCA1, BRCA2
29estradiol46 25 1210.9BRCA1, BRCA2, HSD17B2
30progesterone46 30 62 25 1212.9HSD17B2, BRCA2, BRCA1
31testosterone46 62 25 1211.9BRCA1, BRCA2, HSD17B2
32steroid468.9HSD17B2, BRCA2, BRCA1
33estrogen468.9BRCA1, BRCA2, HSD17B2
34retinoic acid46 259.9HSD17B2, BRCA2, BRCA1
35proline468.7BRCA1, BRCA2

GO Terms for genes affiliated with Hereditary Breast Ovarian Cancer

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17Gene Ontology
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Cellular components related to Hereditary Breast Ovarian Cancer according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein complexGO:0432349.0BRCA1, BRCA2

Biological processes related to Hereditary Breast Ovarian Cancer according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:0069789.0BRCA1, BRCA2
2DNA repairGO:0062819.0BRCA1, BRCA2
3double-strand break repair via homologous recombinationGO:0007248.9BRCA1, BRCA2
4double-strand break repairGO:0063028.7BRCA1, BRCA2

Products for genes affiliated with Hereditary Breast Ovarian Cancer

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Sources for Hereditary Breast Ovarian Cancer

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet