BRCA1
MCID: HRD004
MIFTS: 50

Hereditary Breast Ovarian Cancer (BRCA1) malady

Cancer diseases, Genetic diseases categories

Summaries for Hereditary Breast Ovarian Cancer

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46OMIM, 32MalaCards
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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 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 ovary, and related mouse phenotypes are embryogenesis and tumorigenesis.

Description from OMIM:46 612555,604370

Aliases & Classifications for Hereditary Breast Ovarian Cancer

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8Disease Ontology, 10DISEASES, 60UMLS, 46OMIM, 39NCIt
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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

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17GeneCards, 18GeneDecks
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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

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46OMIM
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Clinical features from OMIM:

612555,604370

Drugs & Therapeutics for Hereditary Breast Ovarian Cancer

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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32MalaCards
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MalaCards organs/tissues related to Hereditary Breast Ovarian Cancer:

32
Breast, Testes, Ovary, Heart

Animal Models for Hereditary Breast Ovarian Cancer or affiliated genes

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36MGI
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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

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50PubMed
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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

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Expression for genes affiliated with Hereditary Breast Ovarian Cancer

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Sources:
1BioGPS, 15Gene 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:
51QIAGEN, 37NCBI BioSystems Database, 53Reactome, 49PharmGKB, 12EMD Millipore, 29KEGG, 4Cell Signaling Technology
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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

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Sources:
44Novoseek, 49PharmGKB, 28IUPHAR, 11DrugBank, 59Tocris Bioscience, 24HMDB, 2BitterDB
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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

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16Gene Ontology
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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hereditary Breast Ovarian Cancer

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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