BRCA1
MCID: HRD004
MIFTS: 50

Hereditary Breast Ovarian Cancer (BRCA1) malady

Cancer diseases, Genetic diseases categories

Summaries for Hereditary Breast Ovarian Cancer

About this section
Sources:
46OMIM, 32MalaCards
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 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 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 breast, testes and heart, and related mouse phenotypes are embryogenesis and tumorigenesis.

Description from OMIM:46 612555,604370

Aliases & Classifications for Hereditary Breast Ovarian Cancer

About this section
Sources:
8Disease Ontology, 10DISEASES, 60UMLS, 46OMIM, 39NCIt
See all sources

Classifications:

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


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
NCIt39 C8493

Related Diseases for Hereditary Breast Ovarian Cancer

About this section
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 209)
idRelated DiseaseScoreTop Affiliating Genes
1breast cancer31.6BRCA1, BRCA2, CHEK2, IGFBP4, RAD51, HMMR
2ovarian cancer31.6TP53, HSD17B1, BRCA1, BRCA2, PHB, CHEK2
3brca1 and brca2 hereditary breast and ovarian cancer30.9BRCA1, BRCA2
4prostate cancer30.9HSD17B1, BRCA1, BRCA2, XRCC3, PHB, CHEK2
5lung cancer30.6TP53, IGFBP4, CHEK2, XRCC3, BRCA2
6bilateral breast cancer30.6BRCA1, BRCA2, CHEK2, RAD51
7male breast cancer30.5BRCA2, BRCA1
8ataxia telangiectasia30.4BRCA1, BRCA2, XRCC3, CHEK2, RAD51, TP53
9fallopian tube cancer30.4BRCA2, BRCA1
10ductal carcinoma in situ30.3TP53, BRCA2, BRCA1
11li-fraumeni syndrome30.3BRCA1, BRCA2, CHEK2, TP53
12pancreatitis30.3BRCA2
13pancreatic cancer30.3BRCA1, BRCA2, RAD51, HMMR, TP53
14colorectal cancer30.3BRCA1, BRCA2, XRCC3, CHEK2, IGFBP4, TP53
15adenocarcinoma30.3BRCA1, BRCA2, XRCC3, CHEK2, IGFBP4, RAD51
16bloom syndrome30.3RAD54L, RAD51, BRCA2, BRCA1
17melanoma30.2TP53, NQO2, CHEK2, XRCC3, BRCA2
18nijmegen breakage syndrome30.2CHEK2, BRCA1
19brain cancer30.1TP53
20peritoneal carcinoma30.1BRCA1, BRCA2
21werner syndrome30.1BRCA1, RAD54L
22sarcoma30.1TP53, CHEK2, BRCA2
23fanconi's anemia30.1PALB2, BRCA2
24retinoblastoma30.1BRCA1, BRCA2, PHB, RB1CC1, CHEK2, TP53
25lynch syndrome30.0BRCA1, BRCA2
26endometriosis30.0IGFBP4, HSD17B2, HSD17B1
27osteosarcoma30.0TP53, IGFBP4, CHEK2
28adenoma30.0BRCA1, XRCC3, RAD51, TP53
29leukemia30.0BRCA1, BRCA2, CHEK2, IGFBP4, RAD51, HMMR
30oral cancer29.9TP53
31wilms tumor29.9SLC22A18, BRCA2
32aplastic anemia29.9PALB2, RAD51, BRCA2, BRCA1
33xeroderma pigmentosum29.9BRCA1, XRCC3, RAD54L, TP53
34stomach cancer29.9BRCA1, BRCA2, XRCC3, PHB, CHEK2, HMMR
35breast-ovarian cancer, familial, 229.7HSD17B2, BRCA2
36deficiency anemia29.7BRCA1
37glioblastoma multiforme29.7CHEK2, IGFBP4, TP53
38colon cancer29.7BRCA1, BRCA2, CHEK2, IGFBP4, RAD51, HMMR
39sporadic breast cancer10.8
40prostatitis10.6
41fanconi anemia, complementation group d110.4
42breast disease10.3
43ovarian disease10.3
44breast-ovarian cancer, familial, 110.3
45peritonitis10.3
46glioblastoma 310.3
47breast carcinoma in situ10.3
48in situ carcinoma10.3
49cystadenoma10.2
50papillary carcinoma10.2

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

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

612555,604370

Drugs & Therapeutics for Hereditary Breast Ovarian Cancer

About this section
Sources:
5CenterWatch, 41NIH 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

About this section

Anatomical Context for Hereditary Breast Ovarian Cancer

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Hereditary Breast Ovarian Cancer:

32
Breast, Testes, Heart, Ovary

Animal Models for Hereditary Breast Ovarian Cancer or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Hereditary Breast Ovarian Cancer:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053809.9HSD17B2, RAD51C, PALB2
2MP:00020069.7PALB2, HMMR, NQO2, CHEK2, PPM1D
3MP:00053799.5BRCA1, BRCA2, PPM1D, IGFBP4, RAD51C, TP53
4MP:00107719.3BRCA1, BRCA2, PPM1D, PHB, RB1CC1, NQO2
5MP:00053899.2BRCA2, PPM1D, PHB, RAD51C, HMMR, TP53
6MP:00053848.9BRCA1, BRCA2, PPM1D, RB1CC1, CHEK2, NQO2
7MP:00053978.9BRCA1, BRCA2, PPM1D, RB1CC1, CHEK2, NQO2
8MP:00053788.8PPM1D, BRCA2, BRCA1, HSD17B2, PHB, IGFBP4
9MP:00053768.8PHB, PPM1D, BRCA2, BRCA1, RB1CC1, CHEK2
10MP:00107688.4PHB, PPM1D, BRCA2, BRCA1, HSD17B2, RB1CC1

Publications for Hereditary Breast Ovarian Cancer

About this section
Sources:
50PubMed
See all sources

Articles related to Hereditary Breast Ovarian Cancer:

(show top 50)    (show all 106)
idTitleAuthorsYear
1
Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases. (23935836)
2013
2
Hereditary breast and ovarian cancer: lessening the burden. (24298633)
2013
3
Experiences of predictive testing in young people at risk of Huntington's disease, familial cardiomyopathy or hereditary breast and ovarian cancer. (23860040)
2013
4
Experience of BRCA1/2 mutation-negative young women from families with hereditary breast and ovarian cancer: a qualitative study. (24131499)
2013
5
Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction. (23239986)
2012
6
Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families. (22923021)
2012
7
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
8
BRCA1 and BRCA2 germline mutation spectrum in hereditary breast/ovarian cancer families from Maghrebian countries. (23697973)
2012
9
Preserving the self: the process of decision making about hereditary breast cancer and ovarian cancer risk reduction. (20980697)
2011
10
Unpacking the blockers: understanding perceptions and social constraints of health communication in hereditary breast ovarian cancer (HBOC) susceptibility families. (21547418)
2011
11
Comprehensive genetic characterization of hereditary breast/ovarian cancer families from Slovakia. (21203900)
2011
12
BRCA1- and BRCA2 mutations: Clinical management of patients with hereditary breast and ovarian cancer]. (20473725)
2010
13
Hereditary breast ovarian cancer syndromes in the Maritimes. (20181317)
2010
14
Hereditary breast and ovarian cancer (HBOC): clinical features and counseling for BRCA1 and BRCA2, Lynch syndrome, Cowden syndrome, and Li-Fraumeni syndrome. (20494261)
2010
15
Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control. (23199084)
2010
16
Novel BRCA1/2 mutations in Serbian breast and breast-ovarian cancer patients with hereditary predisposition. (20804917)
2010
17
Identification and Management of Women With BRCA Mutations or Hereditary Predisposition for Breast and Ovarian Cancer. (21123638)
2010
18
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
19
BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer. (19241424)
2009
20
BRCA1 and BRCA2 mutations in Danish families with hereditary breast and/or ovarian cancer. (18465347)
2008
21
BRCA1 and BRCA2 risk perceptions among African American women at increased risk for hereditary breast-ovarian cancer. (18417966)
2008
22
Cross-sectional analysis of germline BRCA1 and BRCA2 mutations in Japanese patients suspected to have hereditary breast/ovarian cancer. (19016756)
2008
23
Psychological and cancer-specific distress at 18 months post-testing in women with demonstrated BRCA1 mutations for hereditary breast/ovarian cancer. (18219587)
2008
24
Novel germline mutations in BRCA2 gene among 96 hereditary breast and breast-ovarian cancer families from Kerala, South India. (17503080)
2007
25
High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic. (17561994)
2007
26
Individualized preventive and therapeutic management of hereditary breast ovarian cancer syndrome. (17898808)
2007
27
Patient responses to the disclosure of BRCA mutation tests in hereditary breast-ovarian cancer families. (16527602)
2006
28
Identification of a common polymorphism in the TopBP1 gene associated with hereditary susceptibility to breast and ovarian cancer. (16930991)
2006
29
Surveillance behavior and prophylactic surgery after predictive testing for hereditary breast/ovarian cancer. (16252621)
2005
30
Risk of ovarian cancer in BRCA1 and BRCA2 mutation-negative hereditary breast cancer families. (16174860)
2005
31
The effect of experiential knowledge on construction of risk perception in hereditary breast/ovarian cancer. (15789156)
2005
32
Diagnostic 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)
2004
33
The prevention of hereditary breast and ovarian cancer: a personal view. (20233484)
2004
34
Carrier risk status changes resulting from mutation testing in hereditary non-polyposis colorectal cancer and hereditary breast-ovarian cancer. (12920070)
2003
35
Mutations of the BRCA1 gene in hereditary breast and ovarian cancer in the Czech Republic. (12566964)
2003
36
Communication with close and distant relatives in the context of genetic testing for hereditary breast and ovarian cancer in cancer patients. (12476445)
2003
37
Contribution of BRCA2 germline mutations to hereditary breast/ovarian cancer in Germany. (11897832)
2002
38
Genetic counseling in hereditary breast/ovarian cancer in Israel: psychosocial impact and retention of genetic information. (12210341)
2002
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
A high occurrence of BRCA1 and BRCA2 mutations among Czech hereditary breast and breast-ovarian cancer families. (11192759)
2000
41
Physicians' attitudes towards mammography and prophylactic surgery for hereditary breast/ovarian cancer risk and subsequently published guidelines. (10780786)
2000
42
BRCA1 and BRCA2 genes: role in hereditary breast and ovarian cancer in Italy. (10449599)
1999
43
Acceptable strategies for dealing with hereditary breast/ovarian cancer risk. (9168189)
1997
44
Founding BRCA1 mutations in hereditary breast and ovarian cancer in southern Sweden. (8644702)
1996
45
BRCA1 testing in families with hereditary breast-ovarian cancer. A prospective study of patient decision making and outcomes. (8648868)
1996
46
The gene for hereditary breast-ovarian cancer, BRCA1, maps distal to EDH17B2 in chromosome region 17q12-q21. (7833928)
1994
47
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
48
Hereditary breast-ovarian cancer: how can we use the new DNA markers to improve patient management? (8306541)
1993
49
Genetic counselling and hereditary breast ovarian cancer. (1349410)
1992
50
Hereditary epidermolytic palmoplantar keratoderma associated with breast and ovarian cancer in a large kindred. (2960371)
1987

Genetic Variations for Hereditary Breast Ovarian Cancer

About this section

Expression for genes affiliated with Hereditary Breast Ovarian Cancer

About this section
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

About this section
Sources:
51QIAGEN, 37NCBI BioSystems Database, 53Reactome, 49PharmGKB, 12EMD Millipore, 29KEGG, 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

About this section
Sources:
44Novoseek, 49PharmGKB, 28IUPHAR, 11DrugBank, 59Tocris Bioscience, 24HMDB, 2BitterDB
See all sources

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

(show all 40)
idCompoundScoreTop Affiliating Genes
1adriamycin4410.7CHEK2
2tamoxifen44 49 28 1113.5IGFBP4
3bpde4410.4TP53, CHEK2, BRCA1
4indole-3-carbinol4410.4BRCA1, BRCA2, TP53
517beta-hydroxysteroid4410.4HSD17B1, HSD17B2, BRCA1
6benzo(a)pyrene4410.3TP53, NQO2, BRCA1
7o6-methylguanine4410.3TP53, RAD51, BRCA2
8bleomycin44 1111.3TP53, BRCA2, BRCA1
9leptomycin b44 5911.3TP53, PHB, BRCA1
10adpribose4410.3BRCA1, BRCA2, TP53
11resveratrol44 59 11 2413.3BRCA1, BRCA2, NQO2, TP53
12methylmethanesulfonate4410.2BRCA1, BRCA2, RAD51, TP53
13aphidicolin4410.2BRCA1, CHEK2, RAD51, TP53
14melphalan44 1111.2TP53, RAD51, XRCC3
15nocodazole44 1111.2TP53, CHEK2, BRCA1
16gemcitabine44 49 1112.2BRCA1, CHEK2, RAD51, TP53
17p0034410.1XRCC3, BRCA2, BRCA1
18vincristine44 49 1112.1BRCA1, BRCA2, TP53
19gold4410.1BRCA1, BRCA2, IGFBP4, RAD51
20hydroxyurea44 49 1112.1BRCA1, BRCA2, CHEK2, RAD51, TP53
21estrone44 28 11 2413.1HSD17B1, HSD17B2, HSD17B6
22etoposide44 49 59 1113.1BRCA1, BRCA2, CHEK2, RAD51, TP53
23paclitaxel44 49 1112.1TP53, RAD51, BRCA2, BRCA1
24mitomycin c4410.1TP53, RAD51, XRCC3, BRCA2, BRCA1
25nad28 2411.1HSD17B1, HSD17B2, HSD17B6, NQO2
26polyacrylamide4410.0BRCA1, BRCA2, IGFBP4, RAD51
27docetaxel44 49 59 1113.0TP53, BRCA2, BRCA1
28caffeine44 49 28 2 11 2415.0TP53, RAD51, CHEK2, XRCC3, BRCA1
29nadh44 11 2412.0NQO2, HSD17B6, HSD17B2, HSD17B1
30thymidylate4410.0TP53, RAD51, BRCA1
31thymidine44 2410.9BRCA1, BRCA2, IGFBP4, RAD51, TP53
32cisplatin44 49 59 1112.9BRCA1, BRCA2, XRCC3, CHEK2, RAD51, TP53
33progesterone44 59 28 11 2413.9HSD17B1, HSD17B2, BRCA1, BRCA2, IGFBP4, TP53
34dicoumarol449.8TP53, NQO2
35estradiol44 11 2411.8HSD17B1, HSD17B2, HSD17B6, BRCA1, BRCA2, IGFBP4
36steroid449.8IGFBP4, PHB, BRCA2, BRCA1, HSD17B2, HSD17B1
37testosterone44 59 11 2412.8IGFBP4, BRCA2, BRCA1, HSD17B6, HSD17B2, HSD17B1
38retinoic acid44 2410.8HSD17B2, BRCA1, BRCA2, CHEK2, IGFBP4, TP53
39camptothecin44 59 1111.6TP53, BRCA1, BRCA2, XRCC3, PHB, CHEK2
40oligonucleotide449.6BRCA1, BRCA2, CHEK2, RAD51, TP53

GO Terms for genes affiliated with Hereditary Breast Ovarian Cancer

About this section
Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1PML bodyGO:0166059.7CHEK2, RAD51, TP53
2nucleoplasmGO:0056549.1TP53, PALB2, RAD51, RAD51C, CHEK2, PHB
3nucleusGO:0056348.6BRCA2, XRCC3, PPM1D, PHB, RB1CC1, NQO2

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hereditary Breast Ovarian Cancer

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet