MCID: BRS081
MIFTS: 45

Breast Cancer Susceptibility malady

Cancer category

Summaries for Breast Cancer Susceptibility

Sources:
47OMIM, 33MalaCards
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MalaCards: Breast Cancer Susceptibility is related to fanconi's anemia and bilateral breast cancer. An important gene associated with Breast Cancer Susceptibility is NQO2 (NAD(P)H dehydrogenase, quinone 2), and among its related pathways are Integrated Breast Cancer Pathway and DNA damage Role of Brca1 and Brca2 in DNA repair. The compounds cisplatin and camptothecin have been mentioned in the context of this disorder. Affiliated tissues include whole blood, brain and colon, and related mouse phenotypes are tumorigenesis and cellular.

Description from OMIM:47 114480

Aliases & Classifications for Breast Cancer Susceptibility

Sources:
47OMIM
See all sources

Classifications:

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


Aliases & Descriptions:

breast cancer susceptibility 47


Related Diseases for Breast Cancer Susceptibility

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 51)
idRelated DiseaseScoreTop Affiliating Genes
1fanconi's anemia30.7RAD51, ATM, FANCB, BRCA2, BRCA1
2bilateral breast cancer30.1BRCA1, BRCA2, ATM, CHEK2, RAD51
3adenocarcinoma30.1BRCA1, BRCA2, CHEK2, MAP3K1, FGFR2, RAD51
4ataxia telangiectasia30.1BRCA1, BRCA2, ATM, CHEK2, RAD51
5werner syndrome30.1BRCA1, ATM
6familial breast cancer10.6
7sporadic breast cancer10.4
8lung cancer susceptibility10.3
9breast cancer, early-onset10.2
10estrogen-receptor positive breast cancer10.1
11breast adenocarcinoma10.1
12vascular cancer10.1
13ovarian epithelial cancer10.1
14thymic epithelial tumor10.1
15radiation induced cancer10.1
16ataxia10.1
17breast cancer, somatic10.1
18ovarian cancer10.0BRCA1, BRCA2, PHB, ATM, CHEK2, BARD1
19leukemia10.0BRCA1, BRCA2, FANCB, ATM, CHEK2, FGFR2
20prostate cancer10.0BRCA1, BRCA2, PHB, ATM, CHEK2, MAP3K1
21pancreatic cancer10.0BRCA1, BRCA2, ATM, MAP3K1, FGFR2, RAD51
22breast cancer10.0BRCA1, BRCA2, ATM, CHEK2, FGFR2, RAD51
23colon cancer10.0BRCA1, BRCA2, ATM, CHEK2, RAD51, HMMR
24colorectal cancer10.0CHEK2, ATM, BRCA2, BRCA1, FGFR2, SULT1A2
25bloom syndrome10.0BRCA1, BRCA2, ATM, RAD51
26li-fraumeni syndrome10.0BRCA1, BRCA2, ATM, CHEK2
27stomach cancer10.0HMMR, FGFR2, CHEK2, PHB, BRCA2, BRCA1
28nijmegen breakage syndrome10.0CHEK2, ATM, BRCA1
29hodgkin's lymphoma10.0ATM, LSP1, BRCA2, BRCA1
30aplastic anemia10.0BRCA1, BRCA2, RAD51, PALB2
31pancreatitis10.0BRCA2
32brca1 and brca2 hereditary breast and ovarian cancer10.0BRCA1, BRCA2
33sarcoma10.0CHEK2, BRCA2
34dysgerminoma10.0BRCA1, BRCA2
35breast-ovarian cancer, familial, 210.0BRCA2
36glioblastoma multiforme10.0ATM, CHEK2, FGFR2
37peritoneal carcinoma10.0BRCA1, BRCA2
38myelodysplastic syndromes10.0CHEK2
39myeloid leukemia10.0MAP3K1
40melanoma10.0BRCA2, ATM, CHEK2, MAP3K1, NQO2, FGFR2
41fallopian tube cancer10.0BRCA1, BRCA2
42lynch syndrome10.0BRCA2, BRCA1
43male breast cancer10.0BRCA1, BRCA2
44familial colorectal cancer10.0BRCA2, BRCA1
45osteosarcoma10.0CHEK2
46deficiency anemia10.0FANCB, BRCA1
47b-cell chronic lymphocytic leukemia10.0RAD51, ATM, BRCA2
48retinoblastoma10.0BRCA1, BRCA2, PHB, CHEK2, FGFR2
49ductal carcinoma in situ10.0BRCA2, BRCA1
50schizophrenia10.0NQO2

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



Diseases related to breast cancer susceptibility

Clinical Features for Breast Cancer Susceptibility

Sources:
47OMIM
See all sources

Clinical features from OMIM:

114480

Drugs & Therapeutics for Breast Cancer Susceptibility

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

Approved drugs:

Search CenterWatch for Breast Cancer Susceptibility

Drug clinical trials:

Search ClinicalTrials for Breast Cancer Susceptibility

Search NIH Clinical Center for Breast Cancer Susceptibility

Search CenterWatch for Breast Cancer Susceptibility

Genetic Tests for Breast Cancer Susceptibility

Anatomical Context for Breast Cancer Susceptibility

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Breast Cancer Susceptibility:

33
Whole blood, Brain, Colon, Lung, Breast, Prostate, T cells, B cells, Endothelial, Pituitary

Animal Models for Breast Cancer Susceptibility or affiliated genes

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

MGI Mouse Phenotypes related to Breast Cancer Susceptibility:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000200611.2BRCA2, BRCA1, PALB2, HMMR, FGFR2, MAP3K1
2MP:000538411.1BRCA1, BRCA2, LSP1, ATM, CHEK2, BARD1
3MP:001076811.1PALB2, RAD51, FGFR2, MAP3K1, CHEK2, BARD1
4MP:001077110.8BRCA2, PHB, MAP3K1, NQO2, FGFR2, PALB2
5MP:000538010.4FGFR2, PALB2, BARD1

Publications for Breast Cancer Susceptibility

Sources:
51PubMed
See all sources

Articles related to Breast Cancer Susceptibility:

(show top 50)    (show all 582)
idTitleAuthorsYear
1
Functional polymorphism rs7072793 C > T affect individual susceptibility to breast cancer by modulating CD25 transcription activity. (22213266)
2013
2
Methylation of breast cancer susceptibility gene 1 (BRCA1) predicts recurrence in patients with curatively resected stage I non-small cell lung cancer. (23335114)
2013
3
Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple negative breast cancer. (24325915)
2013
4
A commentary on Analysis of ZNF350/ZBRK1 promoter variants and breast cancer susceptibility in non-BRCA1/2 French Canadian breast cancer families. (23223009)
2013
5
19p13.1 is a triple-negative-specific breast cancer susceptibility locus. (22331459)
2012
6
The application of nonsense-mediated mRNA decay inhibition to the identification of breast cancer susceptibility genes. (22703186)
2012
7
Common breast cancer susceptibility loci are associated with triple-negative breast cancer. (21844186)
2011
8
Current evidences on vascular endothelial growth factor polymorphisms and breast cancer susceptibility. (21127992)
2011
9
Breast cancer susceptibility variants alter risks in familial disease. (19617217)
2010
10
Lymphocyte infiltration, expression of interleukin (IL) -1, IL-6 and expression of mutated breast cancer susceptibility gene-1 correlate with malignancy of canine mammary tumours. (19959182)
2010
11
Incidence of breast cancer and its subtypes in relation to individual and multiple low-penetrance genetic susceptibility loci. (20664043)
2010
12
Genetic contribution of GADD45A to susceptibility to sporadic and non-BRCA1/2 familial breast cancers: a systematic evaluation in Chinese populations. (19728081)
2010
13
Fok1 polymorphism of vitamin D receptor gene contributes to breast cancer susceptibility: a meta-analysis. (19145484)
2009
14
Polymorphisms in the promoter region of ESR2 gene and breast cancer susceptibility. (19429453)
2009
15
Clinical implications of low-penetrance breast cancer susceptibility alleles. (19080736)
2009
16
Solamargine induces apoptosis and enhances susceptibility to trastuzumab and epirubicin in breast cancer cells with low or high expression levels of HER2/neu. (18699774)
2009
17
Significant association of DNA repair gene Ku80 genotypes with breast cancer susceptibility in Taiwan. (20044645)
2009
18
Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1. (19219042)
2009
19
Cost-effectiveness of testing for breast cancer susceptibility genes. (18647256)
2009
20
Analysis of BRCA1/BRCA2 genes' contribution to breast cancer susceptibility in high risk Jewish Ashkenazi women. (18798010)
2009
21
Breast cancer susceptibility loci and mammographic density. (18681954)
2008
22
Common MMP-7 polymorphisms and breast cancer susceptibility: a multistage study of association and functionality. (18648013)
2008
23
Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer. (18438407)
2008
24
Association of p53 polymorphisms and its haplotypes with susceptibility of breast cancer]. (18067229)
2007
25
Methodological issues in detecting gene-gene interactions in breast cancer susceptibility: a population-based study in Ontario. (17683639)
2007
26
Network modeling links breast cancer susceptibility and centrosome dysfunction. (17922014)
2007
27
Polymorphisms in the KDR and POSTN genes: association with breast cancer susceptibility and prognosis. (16807673)
2007
28
Phosphorylation of ATR-interacting protein on Ser239 mediates an interaction with breast-ovarian cancer susceptibility 1 and checkpoint function. (17616665)
2007
29
Common variants in the ATM, BRCA1, BRCA2, CHEK2 and TP53 cancer susceptibility genes are unlikely to increase breast cancer risk. (17428325)
2007
30
Common genetic variation in GATA-binding protein 3 and differential susceptibility to breast cancer by estrogen receptor alpha tumor status. (18006915)
2007
31
Evidence against a major genetic basis for combined breast and colorectal cancer susceptibility. (17100999)
2006
32
Polymorphisms in DNA repair gene XRCC1 and increased genetic susceptibility to breast cancer. (15666192)
2005
33
Breast cancer risk associated with genotype polymorphism of the catechol estrogen-metabolizing genes: a multigenic study on cancer susceptibility. (15455371)
2005
34
Interaction between CHEK2*1100delC and other low-penetrance breast-cancer susceptibility genes: a familial study. (16257342)
2005
35
Genomic approaches to identifying breast cancer susceptibility factors. (15687692)
2004
36
Acetyl-CoA carboxylase alpha gene and breast cancer susceptibility. (15333468)
2004
37
No evidence for a familial breast cancer susceptibility gene at chromosome 13q21 in Swedish breast cancer families. (11920654)
2002
38
CHEK2 variants in susceptibility to breast cancer and evidence of retention of the wild type allele in tumours. (12454775)
2002
39
Cytochrome P450 CYP1B1 and catechol O-methyltransferase (COMT) genetic polymorphisms and breast cancer susceptibility in a Turkish population. (12415427)
2002
40
BRCA1 and BRCA2--breast cancer susceptibility genes. (11003560)
2000
41
Glutathione S-transferase mu and theta polymorphisms and breast cancer susceptibility. (10564681)
1999
42
Women's knowledge and attitudes about genetic testing for breast cancer susceptibility. (10539540)
1999
43
Decision-making about breast cancer susceptibility testing: how similar are the attitudes of physicians, nurse practitioners, and at-risk women? (9704741)
1998
44
Assessing the benefits of testing for breast cancer susceptibility genes: a decision analysis. (15687554)
1998
45
Genetic mapping of the Brca2 breast cancer susceptibility gene on mouse chromosome 5. (9196008)
1997
46
The human CAS (cellular apoptosis susceptibility) gene mapping on chromosome 20q13 is amplified in BT474 breast cancer cells and part of aberrant chromosomes in breast and colon cancer cell lines. (8963895)
1996
47
Identification of the breast cancer susceptibility gene BRCA2. (8524414)
1995
48
Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. (8091231)
1994
49
Progress toward isolation of a breast cancer susceptibility gene, BRCA1. (7587109)
1994
50
Possible linkage of a breast cancer-susceptibility locus to the ABO locus: sensitivity of LOD scores to a single new recombinant observation. (6544244)
1984

Genetic Variations for Breast Cancer Susceptibility

Expression for genes affiliated with Breast Cancer Susceptibility

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Breast Cancer Susceptibility

Search GEO for disease gene expression data for Breast Cancer Susceptibility.

Pathways for genes affiliated with Breast Cancer Susceptibility

Sources:
38NCBI BioSystems Database, 12EMD Millipore, 52QIAGEN, 4Cell Signaling Technology, 54Reactome, 30KEGG, 56SinoBiological
See all sources

Pathways related to Breast Cancer Susceptibility according to GeneCards/GeneDecks:

(show all 25)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.9BRCA1, BRCA2, PHB, ATM, CHEK2, BARD1
2
DNA damage Role of Brca1 and Brca2 in DNA repair
Hide members
10.8BRCA1, BRCA2, ATM, CHEK2, BARD1, RAD51
3
Hide members
10.8BRCA1, BRCA2, ATM, CHEK2, BARD1, RAD51
410.8BRCA1, BRCA2, ATM, CHEK2, BARD1, RAD51
5
Hide members
10.8BRCA1, BRCA2, PHB, ATM, CHEK2, RAD51
6
Hide members
10.8BRCA1, BRCA2, FANCB, ATM, RAD51, PALB2
7
Hide members
10.8RAD51, BARD1, ATM, FANCB, BRCA2, BRCA1
810.8BRCA1, BRCA2, ATM, CHEK2, RAD51
910.8BRCA1, BRCA2, FANCB, RAD51, PALB2
1010.7BRCA1, ATM, CHEK2, RAD51
11
Hide members
10.7RAD51, CHEK2, ATM, BRCA1
1210.7BRCA1, ATM, CHEK2, BARD1
13
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10.7BRCA1, ATM, CHEK2, BARD1
14
Hide members
10.7RAD51, ATM, BRCA2, BRCA1
15
Hide members
10.7BRCA1, BRCA2, ATM, RAD51
16
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10.7FGFR2, ATM, BRCA2, BRCA1
17
Hide members
10.7CHEK2, ATM, BRCA1
1810.7CHEK2, ATM, BRCA1
19
Hide members
10.7RAD51, ATM, BRCA2
2010.7RAD51, FANCB, BRCA1
2110.7BRCA1, ATM, MAP3K1
22
Hide members
10.6ATM, CHEK2
23
Hide members
10.6BRCA2, RAD51
2410.6ATM, BRCA1
25
Hide members
10.6ATM, BRCA1

Compounds for genes affiliated with Breast Cancer Susceptibility

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

Compounds related to Breast Cancer Susceptibility according to GeneCards/GeneDecks:

(show all 27)
idCompoundScoreTop Affiliating Genes
1cisplatin45 50 60 1114.3BRCA1, BRCA2, ATM, CHEK2, MAP3K1, FGFR2
2camptothecin45 60 1113.2RAD51, CHEK2, ATM, PHB, BRCA2, BRCA1
3etoposide45 50 60 1114.2BRCA1, BRCA2, ATM, CHEK2, MAP3K1, RAD51
4hydroxyurea45 50 1113.2BRCA1, BRCA2, ATM, CHEK2, RAD51
5phosphatidylinositol4511.1BRCA1, BRCA2, ATM, CHEK2, MAP3K1, FGFR2
6paclitaxel45 50 1113.1BRCA1, BRCA2, MAP3K1, FGFR2, RAD51
7oxygen45 2412.1BRCA1, PHB, ATM, CHEK2, NQO2, FGFR2
8aphidicolin4511.1RAD51, CHEK2, ATM, BRCA1
9genistein45 29 60 2 11 2416.1BRCA1, BRCA2, ATM, CHEK2, FGFR2
10atp45 2912.1BRCA1, PHB, ATM, CHEK2, FGFR2, RAD51
11mitomycin c4511.1RAD51, ATM, BRCA2, BRCA1
12caffeine45 50 29 2 11 2416.0BRCA1, ATM, CHEK2, RAD51
13bpde4511.0BRCA1, ATM, CHEK2
14polyacrylamide4511.0BRCA1, BRCA2, ATM, RAD51
15h2o24511.0RAD51, FGFR2, MAP3K1, BRCA2, BRCA1
16methylmethanesulfonate4511.0RAD51, BRCA2, BRCA1
17neocarzinostatin4510.9CHEK2, ATM
18bleomycin45 1111.9BRCA1, BRCA2, ATM
19estrogen4510.9BARD1
20wortmannin4510.9RAD51, MAP3K1, CHEK2, ATM
21oligonucleotide4510.8RAD51, FGFR2, CHEK2, BRCA2, BRCA1
22gemcitabine45 50 1112.8BRCA1, CHEK2, RAD51
23doxorubicin45 50 1112.8BRCA1, ATM, CHEK2, FGFR2
24resveratrol45 60 11 2413.7BRCA1, BRCA2, NQO2
25gold4510.7RAD51, BRCA2, BRCA1
26tyrosine4510.6BRCA1, ATM, CHEK2, MAP3K1, FGFR2, RAD51
27adriamycin4510.4CHEK2

GO Terms for genes affiliated with Breast Cancer Susceptibility

Sources:
16Gene Ontology
See all sources

Cellular components related to Breast Cancer Susceptibility according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleoplasmGO:00565410.9PALB2, BRCA1, BRCA2, FANCB, PHB, ATM
2BRCA1-A complexGO:07053110.6BARD1, BRCA1
3BRCA1-BARD1 complexGO:03143610.3BARD1, BRCA1

Biological processes related to Breast Cancer Susceptibility according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1DNA repairGO:00628111.1BRCA1, BRCA2, FANCB, ATM, BARD1, RAD51
2double-strand break repair via homologous recombinationGO:00072411.0PALB2, RAD51, ATM, BRCA2, BRCA1
3double-strand break repairGO:00630211.0BRCA1, BRCA2, ATM, CHEK2, RAD51
4response to DNA damage stimulusGO:00697411.0BRCA1, ATM, CHEK2, BARD1, RAD51
5intrinsic apoptotic signaling pathway in response to DNA damageGO:00863010.8CHEK2, ATM, BRCA1
6positive regulation of transcription, DNA-dependentGO:04589310.8BRCA1, BRCA2, PHB, TOX3, CHEK2
7DNA damage induced protein phosphorylationGO:00697510.7ATM, CHEK2
8protein K6-linked ubiquitinationGO:08502010.7BARD1, BRCA1
9DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:00697810.6BRCA2, BRCA1
10replicative senescenceGO:09039910.5CHEK2, ATM
11inner cell mass cell proliferationGO:00183310.3PALB2, BRCA2

Molecular functions related to Breast Cancer Susceptibility according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00551511.3PALB2, BRCA2, FAM84B, FANCB, PHB, TOX3

Products for genes affiliated with Breast Cancer Susceptibility

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Breast Cancer Susceptibility

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