BRCA1
MCID: HRD004

Hereditary Breast Ovarian Cancer malady

Summaries for Hereditary Breast Ovarian Cancer

Sources:
44Wikipedia, 22MalaCards
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Wikipedia: Hereditary breast-ovarian cancer syndromes (HBOC) produce higher than normal levels of breast cancer and...44 more...

MalaCards: Hereditary Breast Ovarian Cancer, also known as familial breast and ovarian cancer syndrome, is related to ovarian cancer and breast cancer. An important gene associated with Hereditary Breast Ovarian Cancer is BRCA1 (breast cancer 1, early onset), and among its related pathways are Fanconis Anaemia Pathway and DNA damage ATM/ATR regulation of G1/S checkpoint. The compounds 8-oxoguanine and daidzein have been mentioned in the context of this disorder. Affiliated tissues include breast and ovary, and related mouse phenotypes are limbs/digits/tail and tumorigenesis.

Aliases & Descriptions for Hereditary Breast Ovarian Cancer

Sources:
6Disease Ontology, 8DISEASES, 43UMLS, 33OMIM, 27NCIt
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Aliases & Descriptions:

hereditary breast ovarian cancer 6 8
familial breast and ovarian cancer syndrome 6
familial cancer of breast 43
brca1 6
brca2 6

External Ids:

NCIt27 C8493

Related Diseases for Hereditary Breast Ovarian Cancer

Sources:
13GeneCards, 14GeneDecks
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Diseases related to hereditary breast ovarian cancer by text searches and GeneDecks gene sharing:

(show top 50)    (show all 187)
idRelated DiseaseScoreTop Affiliating Genes
1ovarian cancer35.2BRCA2, CHEK2, BRCA1
2breast cancer34.8HSD17B6, TP53, HSD17B2, HSD17B1, CHEK2, BOC
3male breast cancer34.0BRCA2, BRCA1
4breast cancer susceptibility32.4HSD17B1, CHEK2, BRCA2, BRCA1, TP53
5breast carcinoma32.4BRCA2, IGFBP4, CHEK2, TP53, HSD17B1, BRCA1
6sporadic breast cancer31.8TP53, CHEK2, BRCA2, BRCA1, HSD17B2
7ovarian carcinoma31.7TP53, BRCA1, BRCA2, HSD17B1, CHEK2
8fallopian tube carcinoma31.4BRCA1, BRCA2
9breast-ovarian cancer31.4BRCA1, BRCA2, BOC, CHEK2, HSD17B1, HSD17B2
10bilateral breast cancer31.3CHEK2, BRCA1, BRCA2, TP53
11prostatitis30.6BRCA1, HSD17B2, BRCA2, IGFBP4, CHEK2, HSD17B1
12ductal carcinoma in situ30.6TP53, BRCA1, BRCA2
13li-fraumeni syndrome30.4BRCA2, BRCA1
14peritoneal carcinoma30.3TP53, BRCA1, BRCA2
15mutagen sensitivity30.3BRCA2, BRCA1, TP53
16hematologic cancer30.3BRCA2, BRCA1
17epithelial ovarian cancer30.2BRCA2, TP53, CHEK2, BRCA1, HSD17B1
18brca1 and brca2 hereditary breast and ovarian cancer30.1BRCA1, BRCA2
19gynecomastia30.0BRCA1, BRCA2
20cowden disease29.9BRCA1, BRCA2
21breast carcinoma in situ29.9BRCA1, TP53, BRCA2
22familial pancreatic cancer29.8BRCA2, BRCA1, TP53, CHEK2
23familial prostate cancer29.7BRCA2, BRCA1, HSD17B2, HSD17B1
24ataxia telangiectasia29.6CHEK2, BRCA2, BRCA1, TP53
25dysgerminoma29.5BRCA2, BRCA1
26skin cancer29.4TP53, BRCA1, BRCA2
27von hippel-lindau disease29.3BRCA1, BRCA2, TP53
28endometrial cancer29.3HSD17B1, TP53, CHEK2, BRCA2, BRCA1
29lynch syndrome29.2BRCA1, BRCA2
30pandas29.2TP53, BRCA2, BRCA1
31bloom syndrome29.2BRCA1, TP53, CHEK2, BRCA2
32follicular lymphoma29.2TP53, BRCA1, BRCA2
33neurofibromatosis29.1BRCA1, BRCA2, TP53
34li-fraumeni-like syndrome29.0TP53, BRCA2
35ovarian germ cell tumor28.9BRCA2, TP53
36female breast carcinoma28.9TP53, BRCA1
37serous cystadenoma28.9BRCA1, TP53
38parathyroid carcinoma28.8TP53, BRCA2
39female breast cancer28.7IGFBP4, BRCA2, TP53
40diffuse large b-cell lymphoma28.3CHEK2, BRCA2, TP53, BRCA1
41adenocarcinoma28.2HSD17B2, IGFBP4, TP53, BRCA1, HSD17B1, CHEK2
42b-cell lymphomas28.1TP53, CHEK2, BRCA2, BRCA1
43thymic epithelial tumor28.1TP53, BRCA1
44nijmegen breakage syndrome28.1TP53, BRCA1, CHEK2
45laryngeal cancer28.0BRCA1, TP53, CHEK2
46laryngitis27.9BRCA1, BRCA2, TP53, CHEK2
47colorectal cancer27.8HSD17B1, CHEK2, TP53, BOC, HSD17B2, BRCA2
48germ cell tumor27.7BRCA2, HSD17B1, TP53
49retinoblastoma27.7BRCA1, TP53, BRCA2, CHEK2
50colon cancer27.6BRCA2, TP53, IGFBP4, CHEK2, BRCA1

Graphical network of the top 20 diseases related to hereditary breast ovarian cancer:



Graphical network of diseases related to hereditary breast ovarian cancer

Clinical Features for Hereditary Breast Ovarian Cancer

Drugs & Therapeutics for Hereditary Breast Ovarian Cancer

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials
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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

Anatomical Context for Hereditary Breast Ovarian Cancer

Sources:
22MalaCards
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MalaCards organs/tissues related to hereditary breast ovarian cancer:

22
Breast, Ovary

Phenotypes for genes affiliated with Hereditary Breast Ovarian Cancer

Sources:
25MGI
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MGI Mouse Phenotypes related to hereditary breast ovarian cancer:

25
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1limbs/digits/tail phenotypeMP:00053718.5BRCA1, BRCA2, BOC, TP53
2tumorigenesisMP:00020068.5BRCA1, BRCA2, CHEK2, TP53

Publications for genes affiliated with Hereditary Breast Ovarian Cancer

Sources:
35PubMed
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Articles related to hereditary breast ovarian cancer:

(show all 33)
idTitleAuthorsYearAffiliating Genes
1Hereditary breast and ovarian cancer due to mutations in BRCA1 and BRCA2. (20216074)Petrucelli N.... Feldman G.L.2010BRCA1, BRCA2
2BRCA1- and BRCA2 mutations: Clinical management of p atients with hereditary breast and ovarian cancer]. (20473725)Pristauz G.... Petru E.2010BRCA2
3Molecular genetics analysis of hereditary breast and ovarian cancer patients in India. (19656415)Soumittra N.... Rajkumar T.2009CHEK2, BRCA1, BRCA2
4BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer. (19241424)Hall M.J.... Noll W.W.2009BRCA1, BRCA2
5BRCA1 and BRCA2 mutations in Danish families with hereditary breast and/or ovarian cancer. (18465347)Thomassen M.... Gerdes A.M.2008BRCA1, BRCA2
6Cross-sectional analysis of germline BRCA1 and BRCA2 mutations in Japanese patients suspected to have hereditary breast/ovarian cancer. (19016756)Sugano K.... Miki Y.2008BRCA1, BRCA2
7Hereditary breast/ovarian cancer: clinicopathological characteristics and survival of BRCA2 positive and negative cases. (19066131)Syamala V.... Ankathil R.2008BRCA2
8Hereditary breast and ovarian cancer: primary and secondary prevention for BRCA1 and BRCA2 mutation carriers (17408542)Llort G.... Blanco I.2007BRCA1, BRCA2
9High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic. (17561994)Vasickova P.... Foretova L.2007BRCA1
10Individualized preventive and therapeutic management of hereditary breast ovarian cancer syndrome. (17898808)Roukos D.H.... Briasoulis E.2007BRCA2
11Germline mutations of BRCA1 in two Korean hereditary breast/ovarian cancer families. (16465413)Kim T.J.... Kim B.G.2006BRCA1
12Ashkenazi founder BRCA1/BRCA2 mutations in Slovak hereditary breast and/or ovarian cancer families. (16575464)CiernikovA! S.... Zajac V.2006BRCA1
13Haplotype analysis suggest common founders in carriers of the recurrent BRCA2 mutation, 3398delAAAAG, in French Canadian hereditary breast and/ovarian cancer families. (16539696)Oros K.K.... Tonin P.N.2006BRCA2
14Re: 'Intra-abdominal carcinomatosis after prophy lactic oophorectomy in women of hereditary breast ovarian cancer syndrome kindr eds associated with BRCA1 and BRCA2 mutations'. (16188301)Olivier R.I.... van Beurden M.2005BRCA1, BRCA2
15Prevalence of five previously reported and recurrent BRCA1 genetic rearrangement mutations in 20,000 patients from hereditary breast/ovarian cancer families. (15846789)Hendrickson B.C.... Scholl T.2005BRCA1
16Intra-abdominal carcinomatosis after prophylactic oophorectomy in women of hereditary breast ovarian cancer syndrome kindreds associated with BRCA1 and BRCA2 mutations. (15863145)Casey M.J.... Lynch H.T.2005BRCA1, BRCA2
17Diagnostic genetic testing for hereditary breast and ovarian cancer in cancer patients: women's looking back on the pre-test period and a psychological evaluation. (15140370)Claes E.... Legius E.2004BRCA1, BRCA2
18Hereditary breast and ovarian cancer in Cyprus: identification of a founder BRCA2 mutation. (15172753)Hadjisavvas A.... Kyriacou K.2004BRCA2
19BRCA1, BRCA2 and CHEK2 (1100 del C) germline mutations in hereditary breast and ovarian cancer families in South India. (14507240)Rajkumar T.... Shanta V.2003CHEK2, BRCA1, BRCA2
20Mutations of the BRCA1 gene in hereditary breast and ovarian cancer in the Czech Republic. (12566964)Pohlreich P.... KonopA!sek B.2003BRCA1
21Communication with close and distant relatives in the context of genetic testing for hereditary breast and ovarian cancer in cancer patients. (12476445)Claes E.... Legius E.2003BRCA1, BRCA2
22Genetic counseling in hereditary breast/ovarian cancer in Israel: psychosocial impact and retention of genetic information. (12210341)DiCastro M.... Friedman E.2002BRCA1, BRCA2
23Contribution of BRCA2 germline mutations to hereditary breast/ovarian cancer in Germany. (11897832)Hamann U.... Scott R.J.2002BRCA2
24Information to families with hereditary breast and ovarian cancer (11826460)Levin T.... Moller P.2001BRCA1
25Histology of prophylactically removed ovaries from BRCA1 and BRCA2 mutation carriers compared with noncarriers in hereditary breast ovarian cancer syndrome kindreds. (10985881)Casey M.J.... Watson P.2000BRCA1, BRCA2
26Uptake of hereditary breast/ovarian cancer genetic testing in a French national sample of BRCA1 families. The French Cancer Genetic Network. (11180585)Julian-Reynier C.... Bourret P.2000BRCA1
27Study of BRCA1 gene in hereditary breast and ovarian cancer. (12894890)Xiaoman D.... Jinghe L.1999BRCA1
28BRCA1 and BRCA2 genes: role in hereditary breast and ovarian cancer in Italy. (10449599)Santarosa M.... Viel A.1999BRCA2
29German family study on hereditary breast and/or ovarian cancer: germline mutation analysis of the BRCA1 gene. (9115962)Hamann U.... Scott R.J.1997BRCA1
30Founding BRCA1 mutations in hereditary breast and ovarian cancer in southern Sweden. (8644702)Johannsson O.... Borg A.1996BRCA1
31BRCA1 testing in families with hereditary breast-ovarian cancer. A prospective study of patient decision making and outcomes. (8648868)Lerman C.... Lynch H.1996BRCA1
32Splice-site mutation of the p53 gene in a family with hereditary breast-ovarian cancer. (8302608)Jolly K.W.... Look A.T.1994TP53
33The 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)Tonin P.... Huynh H.1993BRCA1, IGFBP4

Expression for genes affiliated with Hereditary Breast Ovarian Cancer

Sources:
1BioGPS
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Expression patterns in normal tissues for genes affiliated with Hereditary Breast Ovarian Cancer

Pathways for genes affiliated with Hereditary Breast Ovarian Cancer

Sources:
36QIAGEN, 10EMD Millipore, 41Thomson Reuters, 20KEGG, 3Cell Signaling Technology
See all sources

Pathways related to hereditary breast ovarian cancer according to GeneDecks:

(show all 27)
idPathwayScoreTop Affiliating Genes
1Fanconis Anaemia Pathway3610.0BRCA2, BRCA1
2DNA damage ATM/ATR regulation of G1/S checkpoint1010.0CHEK2
3DNA Damage Induced 14-3-3Sigma Signaling369.8TP53, BRCA1
4Estrogen biosynthesis419.7HSD17B2, HSD17B1
5Estrogen biosynthesis109.7HSD17B2, HSD17B1
6Estrone metabolism109.7HSD17B1, HSD17B2
7Estrone metabolism419.7HSD17B1, HSD17B2
8GADD45 Pathway369.6BRCA1, TP53
9Androstenedione and testosterone biosynthesis and metabolism p.1109.6HSD17B1, HSD17B2
10Androstenedione and testosterone biosynthesis and metabolism p.1419.5HSD17B1, HSD17B2
11Steroid hormone biosynthesis209.4HSD17B2, HSD17B6, HSD17B1
12DNA damage Role of SUMO in p53 regulation109.3CHEK2, TP53
13DNA damage_DNA-damage-induced responses419.2TP53, CHEK2, BRCA1
14DNA damage DNA-damage-induced responses109.2TP53, CHEK2, BRCA1
15ATM Pathway369.1BRCA1, CHEK2, TP53
16DNA damage_Role of SUMO in p53 regulation419.1TP53, CHEK2
17DNA damage_ATM/ATR regulation of G1/S checkpoint419.1TP53, CHEK2, BRCA1
18Chks in Checkpoint Regulation369.1BRCA1, CHEK2, TP53
19p53 Signaling369.1BRCA1, CHEK2, TP53
20Cell cycle Role of 14-3-3 proteins in cell cycle regulation109.0CHEK2, TP53
21DNA damage Role of Brca1 and Brca2 in DNA repair108.8BRCA1, TP53, CHEK2, BRCA2
22DNA damage_Role of Brca1 and Brca2 in DNA repair418.8TP53, CHEK2, BRCA2, BRCA1
23Cell cycle_Role of 14-3-3 proteins in cell cycle regulation418.8CHEK2, TP53
24BRCA1 Pathway368.8TP53, CHEK2, BRCA2, BRCA1
25DNA Damage38.8BRCA1, BRCA2, CHEK2, TP53
26DNA Repair Mechanisms368.8TP53, CHEK2, BRCA2, BRCA1
27Cell Cycle / Checkpoint Control38.8TP53, CHEK2, BRCA2, BRCA1

Compounds for genes affiliated with Hereditary Breast Ovarian Cancer

Sources:
32Novoseek , 18HMDB, 9DrugBank, 34PharmGKB, 42Tocris Bioscience
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Compounds related to hereditary breast ovarian cancer according to GeneDecks:

(show all 39)
idCompoundScoreTop Affiliating Genes
18-oxoguanine32 10.0BRCA1, BRCA2
2daidzein32 10.0BRCA1, BRCA2
35-methylcytosine32 18 10.8BRCA1, TP53
4indole-3-carbinol32 9.7BRCA1, BRCA2, TP53
5methylmethanesulfonate32 9.7TP53, BRCA2, BRCA1
6bleomycin32 9 9 11.6BRCA1, BRCA2, TP53
7docetaxel32 34 9 9 12.6BRCA1, BRCA2, TP53
8adpribose32 9.6TP53, BRCA2, BRCA1
9mitomycin c32 9.6BRCA1, BRCA2, TP53
10gold32 9.6BRCA1, BRCA2, IGFBP4
11hydroxysteroid32 9.6HSD17B2, HSD17B1
12resveratrol32 9 18 9 12.6BRCA1, BRCA2, TP53
13Estriol9 18 9 11.5HSD17B1, HSD17B2
14o6-methylguanine32 9.5TP53, BRCA2
15etoposide32 42 9 9 12.5CHEK2, TP53
1617beta-hydroxysteroid32 9.5BRCA1, HSD17B1, HSD17B2
17estrone32 9 18 9 12.4HSD17B2, HSD17B6, HSD17B1
18temozolomide32 9 9 11.2CHEK2, TP53
19bpde32 9.2BRCA1, CHEK2, TP53
20aphidicolin32 9.2BRCA1, CHEK2, TP53
21tamoxifen32 34 9 9 12.2TP53, IGFBP4, BRCA2, BRCA1
22gemcitabine32 34 9 9 12.1BRCA1, CHEK2, TP53
23proline32 9.1BRCA1, BRCA2, IGFBP4, TP53
24sn 3832 42 10.1CHEK2, TP53
25nocodazole32 42 9 9 12.1BRCA1, CHEK2, TP53
26caffeine32 34 9 18 9 13.1TP53, CHEK2, BRCA1
27thymidine32 18 10.1TP53, IGFBP4, BRCA2, BRCA1
28polyacrylamide32 9.1BRCA1, BRCA2, IGFBP4
29hydroxyurea32 9 9 10.9TP53, CHEK2, BRCA2, BRCA1
30adriamycin32 8.9TP53, CHEK2, BRCA2, BRCA1
31camptothecin32 42 9 9 11.9BRCA1, BRCA2, CHEK2, TP53
32cisplatin32 34 9 9 11.7TP53, CHEK2, BRCA2, BRCA1
33steroid32 8.7HSD17B2, HSD17B1, IGFBP4, BRCA2, BRCA1
34oligonucleotide32 8.5BRCA1, BRCA2, CHEK2, TP53
35estradiol32 9 18 9 11.4BRCA1, BRCA2, IGFBP4, HSD17B1, HSD17B6, HSD17B2
36testosterone32 9 18 9 11.4HSD17B2, HSD17B6, HSD17B1, IGFBP4, BRCA2, BRCA1
37progesterone32 42 9 18 9 12.2TP53, HSD17B2, HSD17B1, IGFBP4, BRCA2, BRCA1
38estrogen32 8.2TP53, HSD17B2, HSD17B1, IGFBP4, BRCA2, BRCA1
39retinoic acid32 42 18 9.8TP53, HSD17B2, IGFBP4, CHEK2, BRCA2, BRCA1

GO Terms for genes affiliated with Hereditary Breast Ovarian Cancer

Sources:
12Gene Ontology
See all sources

Cellular components related to hereditary breast ovarian cancer according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein complexGO:0432349.3BRCA1, BRCA2, TP53

Biological processes related to hereditary breast ovarian cancer according to GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of cell cycle arrestGO:0711589.7BRCA1, TP53
2estrogen biosynthetic processGO:0067039.7HSD17B1, HSD17B2
3androgen biosynthetic processGO:0067029.7HSD17B6, HSD17B2
4multicellular organism growthGO:0352649.6BRCA2, TP53
5DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:0069789.5BRCA1, BRCA2, TP53
6DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosisGO:0427719.5BRCA2, TP53
7DNA damage response, signal transduction resulting in induction of apoptosisGO:0086309.3CHEK2, BRCA1
8replicative senescenceGO:0903999.3CHEK2, TP53
9cell agingGO:0075699.3BRCA2, TP53
10response to gamma radiationGO:0103329.0TP53, CHEK2, BRCA2
11response to DNA damage stimulusGO:0069749.0TP53, CHEK2, BRCA1
12double-strand break repairGO:0063028.7BRCA1, BRCA2, CHEK2, TP53
13positive regulation of transcription, DNA-dependentGO:0458938.5BRCA1, BRCA2, CHEK2, TP53

Molecular functions related to hereditary breast ovarian cancer according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1testosterone 17-beta-dehydrogenase (NAD+) activityGO:0503279.2HSD17B6, HSD17B2
2estradiol 17-beta-dehydrogenase activityGO:0043039.0HSD17B1, HSD17B6, HSD17B2
3ubiquitin protein ligase bindingGO:0316258.8BRCA1, CHEK2, TP53

Sources for Hereditary Breast Ovarian Cancer

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS