BRCA1
MCID: HRD004
MIFTS: 48

Hereditary Breast Ovarian Cancer (BRCA1) malady

Cancer, Genetic categories

Summaries for Hereditary Breast Ovarian Cancer

Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Hereditary Breast Ovarian Cancer, also known as familial breast and ovarian cancer syndrome, is related to bilateral breast cancer and male breast cancer. An important gene associated with Hereditary Breast Ovarian Cancer is BRCA1 (breast cancer 1, early onset), and among its related pathways are DNA Damage Induced 14-3-3Sigma Signaling and PLK3 signaling events. The compounds adriamycin and tamoxifen have been mentioned in the context of this disorder. Affiliated tissues include heart, breast and ovary, and related mouse phenotypes are embryogenesis and tumorigenesis.

Description from OMIM:47 612555,604370

Aliases & Classifications for Hereditary Breast Ovarian Cancer

Sources:
8Disease Ontology, 10DISEASES, 61UMLS, 47OMIM, 40NCIt
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer, Genetic


Aliases & Descriptions:

hereditary breast ovarian cancer 8 10
familial breast and ovarian cancer syndrome 8
brca1 8
brca2 8


External Ids:

Disease Ontology8 DOID:5683
NCIt40 C8493

Related Diseases for Hereditary Breast Ovarian Cancer

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 190)
idRelated DiseaseScoreTop Affiliating Genes
1bilateral breast cancer30.7BRCA1, BRCA2, CHEK2, RAD51
2male breast cancer30.6BRCA2, BRCA1
3oral cancer30.5TP53
4ataxia telangiectasia30.5BRCA1, BRCA2, XRCC3, CHEK2, RAD51, TP53
5brca1 and brca2 hereditary breast and ovarian cancer30.4BRCA1, BRCA2
6fanconi's anemia30.4PALB2, BRCA2
7peritoneal carcinoma30.3BRCA1, BRCA2
8colorectal cancer30.3BRCA1, BRCA2, XRCC3, CHEK2, IGFBP4, TP53
9bloom syndrome30.3RAD54L, RAD51, BRCA2, BRCA1
10adenocarcinoma30.3BRCA1, BRCA2, XRCC3, CHEK2, IGFBP4, RAD51
11nijmegen breakage syndrome30.3CHEK2, BRCA1
12li-fraumeni syndrome30.2BRCA1, BRCA2, CHEK2, TP53
13brain cancer30.2TP53
14werner syndrome30.2BRCA1, RAD54L
15wilms tumor30.1SLC22A18, BRCA2
16ductal carcinoma in situ30.1TP53, BRCA2, BRCA1
17adenoma30.1BRCA1, XRCC3, RAD51, TP53
18aplastic anemia29.9PALB2, RAD51, BRCA2, BRCA1
19xeroderma pigmentosum29.9BRCA1, XRCC3, RAD54L, TP53
20stomach cancer29.9BRCA1, BRCA2, XRCC3, PHB, CHEK2, HMMR
21breast-ovarian cancer, familial, 229.7HSD17B2, BRCA2
22deficiency anemia29.7BRCA1
23sporadic breast cancer10.8
24familial breast cancer10.8
25breast cancer, early-onset10.7
26fanconi anemia, complementation group d110.4
27breast cancer susceptibility10.4
28ovarian epithelial cancer10.4
29ataxia10.3
30breast-ovarian cancer, familial, 110.3
31glioblastoma 310.3
32primary peritoneal carcinoma10.3
33cystadenoma10.3
34papillary carcinoma10.3
35hypoxia10.3
36ocular melanoma10.2
37papillary serous adenocarcinoma10.2
38n syndrome10.2
39breast adenocarcinoma10.2
40breast cancer, childhood10.2
41ovarian cancer, childhood10.2
42ovarian cancer, somatic10.2
43breast cancer, somatic10.2
44pancreatic carcinoma, somatic10.2
45coronary heart disease10.2
46estrogen-receptor positive breast cancer10.2
47premature menopause10.2
48gynecomastia10.2
49mutagen sensitivity10.2
50dysgerminoma10.2

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



Diseases related to hereditary breast ovarian cancer

Clinical Features for Hereditary Breast Ovarian Cancer

Sources:
47OMIM
See all sources

Clinical features from OMIM:

612555,604370

Drugs & Therapeutics for Hereditary Breast Ovarian Cancer

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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:
33MalaCards
See all sources

MalaCards organs/tissues related to Hereditary Breast Ovarian Cancer:

33
Heart, Breast, Ovary

Animal Models for Hereditary Breast Ovarian Cancer or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Hereditary Breast Ovarian Cancer

Sources:
51PubMed
See all sources

Articles related to Hereditary Breast Ovarian Cancer:

(show top 50)    (show all 106)
idTitleAuthorsYear
1
Genetic counseling does not fulfill the counselees' need for certainty in hereditary breast/ovarian cancer families: an explorative assessment. (22777929)
2013
2
Hereditary breast and ovarian cancer: lessening the burden. (24298633)
2013
3
CHEK2 1100delC and Del5395bp mutations in BRCA-negative individuals from Serbian hereditary breast and ovarian cancer families. (24065469)
2013
4
Identification of a novel in-frame deletion in BRCA2 and analysis of variants of BRCA1/2 in Italian patients affected with hereditary breast and ovarian cancer. (23096105)
2012
5
BRCA1 and BRCA2 germline mutation spectrum in hereditary breast/ovarian cancer families from Maghrebian countries. (23697973)
2012
6
Adverse childhood experiences of persons at risk for Huntington's disease or BRCA1/2 hereditary breast/ovarian cancer. (21895638)
2012
7
Preserving the self: the process of decision making about hereditary breast cancer and ovarian cancer risk reduction. (20980697)
2011
8
Further evidence for the contribution of the RAD51C gene in hereditary breast and ovarian cancer susceptibility. (21750962)
2011
9
Hereditary breast-ovarian cancer syndrome in Russia. (22649661)
2010
10
Coronary heart disease risk profile in women who underwent salpingo-oophorectomy to prevent hereditary breast ovarian cancer. (20169665)
2010
11
BRCA1- and BRCA2 mutations: Clinical management of patients with hereditary breast and ovarian cancer]. (20473725)
2010
12
Obstetrics/gynecology residents' knowledge of hereditary breast and ovarian cancer and Lynch syndrome. (20186516)
2010
13
Hereditary breast and ovarian cancer due to mutations in BRCA1 and BRCA2. (20216074)
2010
14
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
15
Molecular genetics analysis of hereditary breast and ovarian cancer patients in India. (19656415)
2009
16
Fatigue and quality of life after risk-reducing salpingo-oophorectomy in women at increased risk for hereditary breast-ovarian cancer. (19820364)
2009
17
Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy. (18821011)
2009
18
Identification and management of women at high risk for hereditary breast/ovarian cancer syndrome. (19292801)
2009
19
Hereditary breast/ovarian cancer: clinicopathological characteristics and survival of BRCA2 positive and negative cases. (19066131)
2008
20
"Are you at risk for hereditary breast cancer?": development of a personal risk assessment tool for hereditary breast and ovarian cancer. (18181014)
2008
21
Coordinated prophylactic surgical management for women with hereditary breast-ovarian cancer syndrome. (18410690)
2008
22
A novel BRCA1 mutation in an Indian family with hereditary breast/ovarian cancer. (17131039)
2007
23
Germline mutations of BRCA1 in two Korean hereditary breast/ovarian cancer families. (16465413)
2006
24
Ashkenazi founder BRCA1/BRCA2 mutations in Slovak hereditary breast and/or ovarian cancer families. (16575464)
2006
25
Low rates of acceptance of BRCA1 and BRCA2 test results among African American women at increased risk for hereditary breast-ovarian cancer. (16980814)
2006
26
Haplotype analysis suggest common founders in carriers of the recurrent BRCA2 mutation, 3398delAAAAG, in French Canadian hereditary breast and/ovarian cancer families. (16539696)
2006
27
Clinical, molecular and geographical features of hereditary breast/ovarian cancer in latvia. (20223033)
2005
28
Hereditary Breast-Ovarian Cancer Team of the University Medical Centre Groningen (UMCG) - a Report. (20223045)
2005
29
Re: "Intra-abdominal carcinomatosis after prophylactic oophorectomy in women of hereditary breast ovarian cancer syndrome kindreds associated with BRCA1 and BRCA2 mutations". (16188301)
2005
30
Intra-abdominal carcinomatosis after prophylactic oophorectomy in women of hereditary breast ovarian cancer syndrome kindreds associated with BRCA1 and BRCA2 mutations. (15863145)
2005
31
Decision making and decision support for hereditary breast-ovarian cancer susceptibility. (16045423)
2005
32
Advocate's Viewpoint on Hereditary Breast/Ovarian Cancer. (20233464)
2004
33
The presence of hereditary BRCA1 gene mutations in women with familial breast or ovarian cancer and the frequency of occurrence of these tumours in their relatives. (15285306)
2004
34
Women's satisfaction with genetic counseling for hereditary breast-ovarian cancer: psychological aspects. (15389697)
2004
35
BRCA1, BRCA2 and CHEK2 (1100 del C) germline mutations in hereditary breast and ovarian cancer families in South India. (14507240)
2003
36
Mutations of the BRCA1 gene in hereditary breast and ovarian cancer in the Czech Republic. (12566964)
2003
37
Hereditary breast-ovarian cancer at the bedside: role of the medical oncologist. (12586815)
2003
38
Prophylactic surgery in hereditary breast/ovarian cancer syndrome. (12886864)
2003
39
Genetic counseling in hereditary breast/ovarian cancer in Israel: psychosocial impact and retention of genetic information. (12210341)
2002
40
Hereditary breast/ovarian cancer--pitfalls in genetic counseling. (11683778)
2001
41
Information to families with hereditary breast and ovarian cancer]. (11826460)
2001
42
Attitudes toward prophylactic oophorectomy and screening utilization in women at increased risk of developing hereditary breast/ovarian cancer. (10502438)
1999
43
Study of BRCA1 gene in hereditary breast and ovarian cancer. (12894890)
1999
44
French physicians' knowledge about hereditary breast/ovarian cancer: the need for continuing vocational training in genetics. (14960837)
1999
45
German family study on hereditary breast and/or ovarian cancer: germline mutation analysis of the BRCA1 gene. (9115962)
1997
46
German family study on hereditary breast-ovarian cancer. (8863152)
1996
47
Splice-site mutation of the p53 gene in a family with hereditary breast-ovarian cancer. (8302608)
1994
48
BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer (20301425)
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

Genetic Variations for Hereditary Breast Ovarian Cancer

Expression for genes affiliated with Hereditary Breast Ovarian Cancer

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
52QIAGEN, 38NCBI BioSystems Database, 54Reactome, 50PharmGKB, 12EMD Millipore, 30KEGG, 4Cell Signaling Technology
See all sources

Pathways related to Hereditary Breast Ovarian Cancer according to GeneCards/GeneDecks:

(show all 26)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2TP53, BRCA1
210.2TP53, CHEK2
310.1TP53, PALB2
410.1TP53, XRCC3
5
Hide members
10.1RAD51, BRCA2
610.0TP53, CHEK2, BRCA1
710.0TP53, CHEK2, BRCA1
8
Hide members
10.0RAD51, BRCA2, BRCA1
9
Hide members
10.0BRCA1, BRCA2, RAD51
10
Hide members
10.0RAD51, BRCA2, BRCA1
1110.0PPM1D, CHEK2, TP53
12
Hide members
10.0BRCA2, RAD51, TP53
13
Hide members
9.9HSD17B6, HSD17B2, HSD17B1
14
Hide members
9.8BRCA1, BRCA2, CHEK2, RAD51
159.8BRCA1, CHEK2, RAD51, TP53
169.8BRCA1, RAD51C, RAD51, RAD54L
17
Hide members
9.8BRCA1, BRCA2, RAD51, PALB2
18
Hide members
9.7HSD17B1, HSD17B2, BRCA1, CHEK2, TP53
199.7BRCA1, BRCA2, CHEK2, RAD51, TP53
20
DNA damage Role of Brca1 and Brca2 in DNA repair
Hide members
9.7TP53, RAD51, CHEK2, BRCA2, BRCA1
219.7BRCA1, BRCA2, RAD51C, RAD51, PALB2
22
Hide members
9.6BRCA2, XRCC3, RAD51C, RAD51, RAD54L
23
Hide members
9.6BRCA1, PPM1D, CHEK2, RAD51, TP53
249.5BRCA1, BRCA2, RB1CC1, CHEK2, RAD51, TP53
25
Hide members
9.4BRCA1, BRCA2, PPM1D, PHB, CHEK2, RAD51
269.1TP53, BRCA1, BRCA2, XRCC3, PHB, CHEK2

Compounds for genes affiliated with Hereditary Breast Ovarian Cancer

Sources:
45Novoseek, 50PharmGKB, 29IUPHAR, 11DrugBank, 60Tocris Bioscience, 24HMDB, 2BitterDB
See all sources

Compounds related to Hereditary Breast Ovarian Cancer according to GeneCards/GeneDecks:

(show all 40)
idCompoundScoreTop Affiliating Genes
1adriamycin4510.7CHEK2
2tamoxifen45 50 29 1113.5IGFBP4
3bpde4510.4TP53, CHEK2, BRCA1
4indole-3-carbinol4510.4BRCA1, BRCA2, TP53
517beta-hydroxysteroid4510.4HSD17B1, HSD17B2, BRCA1
6benzo(a)pyrene4510.3TP53, NQO2, BRCA1
7o6-methylguanine4510.3TP53, RAD51, BRCA2
8bleomycin45 1111.3TP53, BRCA2, BRCA1
9leptomycin b45 6011.3TP53, PHB, BRCA1
10adpribose4510.3BRCA1, BRCA2, TP53
11resveratrol45 60 11 2413.3BRCA1, BRCA2, NQO2, TP53
12methylmethanesulfonate4510.2BRCA1, BRCA2, RAD51, TP53
13aphidicolin4510.2BRCA1, CHEK2, RAD51, TP53
14melphalan45 1111.2TP53, RAD51, XRCC3
15nocodazole45 1111.2TP53, CHEK2, BRCA1
16gemcitabine45 50 1112.2BRCA1, CHEK2, RAD51, TP53
17p0034510.1XRCC3, BRCA2, BRCA1
18vincristine45 50 1112.1BRCA1, BRCA2, TP53
19gold4510.1BRCA1, BRCA2, IGFBP4, RAD51
20hydroxyurea45 50 1112.1BRCA1, BRCA2, CHEK2, RAD51, TP53
21estrone45 29 11 2413.1HSD17B1, HSD17B2, HSD17B6
22etoposide45 50 60 1113.1BRCA1, BRCA2, CHEK2, RAD51, TP53
23paclitaxel45 50 1112.1TP53, RAD51, BRCA2, BRCA1
24mitomycin c4510.1TP53, RAD51, XRCC3, BRCA2, BRCA1
25nad29 2411.1HSD17B1, HSD17B2, HSD17B6, NQO2
26polyacrylamide4510.0BRCA1, BRCA2, IGFBP4, RAD51
27docetaxel45 50 60 1113.0TP53, BRCA2, BRCA1
28caffeine45 50 29 2 11 2415.0TP53, RAD51, CHEK2, XRCC3, BRCA1
29nadh45 11 2412.0NQO2, HSD17B6, HSD17B2, HSD17B1
30thymidylate4510.0TP53, RAD51, BRCA1
31thymidine45 2410.9BRCA1, BRCA2, IGFBP4, RAD51, TP53
32cisplatin45 50 60 1112.9BRCA1, BRCA2, XRCC3, CHEK2, RAD51, TP53
33progesterone45 60 29 11 2413.9HSD17B1, HSD17B2, BRCA1, BRCA2, IGFBP4, TP53
34dicoumarol459.8TP53, NQO2
35estradiol45 11 2411.8HSD17B1, HSD17B2, HSD17B6, BRCA1, BRCA2, IGFBP4
36steroid459.8IGFBP4, PHB, BRCA2, BRCA1, HSD17B2, HSD17B1
37testosterone45 60 11 2412.8IGFBP4, BRCA2, BRCA1, HSD17B6, HSD17B2, HSD17B1
38retinoic acid45 2410.8HSD17B2, BRCA1, BRCA2, CHEK2, IGFBP4, TP53
39camptothecin45 60 1111.6TP53, BRCA1, BRCA2, XRCC3, PHB, CHEK2
40oligonucleotide459.6BRCA1, BRCA2, CHEK2, RAD51, TP53

GO Terms for genes affiliated with Hereditary Breast Ovarian Cancer

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1PML bodyGO:0166059.7TP53, RAD51, CHEK2
2nucleoplasmGO:0056549.1TP53, PALB2, RAD51, RAD51C, CHEK2, PHB
3nucleusGO:0056348.6BRCA1, RAD54L, RAD51, RAD51C, NQO2, RB1CC1

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:00697810.3BRCA1, BRCA2, TP53
2DNA strand renaturationGO:00073310.3TP53, RAD54L
3replicative senescenceGO:09039910.2TP53, CHEK2
4response to gamma radiationGO:01033210.2BRCA2, CHEK2, TP53
5response to X-rayGO:01016510.2TP53, BRCA2
6inner cell mass cell proliferationGO:00183310.2BRCA2, PALB2
7male meiosis IGO:00714110.1RAD51C, BRCA2
8DNA recombinationGO:00631010.0RAD54L, RAD51, RAD51C, XRCC3
9double-strand break repairGO:0063029.9BRCA1, BRCA2, CHEK2, RAD51, TP53
10double-strand break repair via homologous recombinationGO:0007249.9PALB2, RAD54L, RAD51, BRCA2, BRCA1
11positive regulation of cell cycle arrestGO:0711589.9TP53, BRCA1
12response to DNA damage stimulusGO:0069749.9TP53, RAD51, CHEK2, XRCC3, BRCA1
13positive regulation of transcription, DNA-dependentGO:0458939.9BRCA1, BRCA2, PHB, CHEK2, TP53
14DNA repairGO:0062819.6BRCA1, BRCA2, XRCC3, RAD51C, RAD51, RAD54L

Molecular functions related to Hereditary Breast Ovarian Cancer according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1estradiol 17-beta-dehydrogenase activityGO:0043039.9HSD17B6, HSD17B2, HSD17B1
2testosterone dehydrogenase (NAD+) activityGO:0470359.8HSD17B2, HSD17B6
3ubiquitin protein ligase bindingGO:0316259.7TP53, SLC22A18, CHEK2, BRCA1
4protein bindingGO:0055158.1BRCA2, XRCC3, PPM1D, PHB, RB1CC1, CHEK2

Products for genes affiliated with Hereditary Breast Ovarian Cancer

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hereditary Breast Ovarian Cancer

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet