MCID: BRS081
MIFTS: 32

Breast Cancer Susceptibility malady

Cancer diseases category

Summaries for Breast Cancer Susceptibility

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Sources:
46OMIM, 32MalaCards
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MalaCards: Breast Cancer Susceptibility is related to breast cancer and ovarian cancer. An important gene associated with Breast Cancer Susceptibility is RAD51 (RAD51 recombinase), and among its related pathways are Meiosis and ATM Pathway. The compounds aphidicolin and o6-methylguanine have been mentioned in the context of this disorder. Affiliated tissues include breast.

Description from OMIM:46 114480

Aliases & Classifications for Breast Cancer Susceptibility

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Sources:
46OMIM
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Classifications:

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


Aliases & Descriptions:

breast cancer susceptibility 46


Related Diseases for Breast Cancer Susceptibility

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Breast Cancer Susceptibility via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1breast cancer32.0BRCA1, BRCA2, BRIP1, RAD51, NBN
2ovarian cancer30.7BRCA1, BRCA2, BRIP1, RAD51, NBN
3pancreatitis30.4BRCA2
4pancreatic cancer30.4RAD51, BRCA2, BRCA1
5werner syndrome30.0NBN, BRCA1
6retinoblastoma30.0BRCA1, BRCA2
7bilateral breast cancer30.0BRCA1, BRCA2, RAD51
8ataxia telangiectasia30.0NBN, RAD51, BRCA2, BRCA1
9adenocarcinoma30.0BRCA1, BRCA2, RAD51
10sporadic breast cancer10.4
11breast disease10.4
12lung cancer10.3
13estrogen-receptor positive breast cancer10.1
14breast adenocarcinoma10.1
15obesity10.1
16pancreatic ductal adenocarcinoma10.1
17pituitary cancer10.1
18vascular cancer10.1
19breast-ovarian cancer, familial, 210.0BRCA2
20medulloblastoma10.0BRCA2
21nijmegen breakage syndrome10.0NBN, BRCA1
22brca1 and brca2 hereditary breast and ovarian cancer10.0BRCA1, BRCA2
23fallopian tube cancer10.0BRCA1, BRCA2
24lynch syndrome10.0BRCA2, BRCA1
25male breast cancer10.0BRCA1, BRCA2
26familial colorectal cancer10.0BRCA2, BRCA1
27cowden disease10.0BRCA1, BRCA2
28peritoneal carcinoma10.0BRCA2, BRCA1
29li-fraumeni syndrome10.0BRCA2, BRCA1
30dysgerminoma10.0BRCA2, BRCA1
31gynecomastia10.0BRCA2, BRCA1
32deficiency anemia10.0BRCA1, BRIP1
33fanconi's anemia10.0BRIP1, BRCA2
34ductal carcinoma in situ10.0BRCA2, BRCA1
35b-cell chronic lymphocytic leukemia10.0RAD51, BRCA2
36bloom syndrome10.0BRCA1, BRCA2, RAD51
37aplastic anemia10.0RAD51, BRCA2, BRCA1
38prostate cancer10.0RAD51, BRCA2, BRCA1
39colon cancer10.0BRCA1, BRCA2, RAD51
40colorectal cancer10.0BRCA1, BRCA2, NBN

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



Diseases related to breast cancer susceptibility

Clinical Features for Breast Cancer Susceptibility

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Sources:
46OMIM
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Clinical features from OMIM:

114480

Drugs & Therapeutics for Breast Cancer Susceptibility

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Sources:
5CenterWatch, 41NIH 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

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Anatomical Context for Breast Cancer Susceptibility

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Sources:
32MalaCards
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MalaCards organs/tissues related to Breast Cancer Susceptibility:

32
Breast

Animal Models for Breast Cancer Susceptibility or affiliated genes

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Publications for Breast Cancer Susceptibility

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Genetic Variations for Breast Cancer Susceptibility

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Breast Cancer Susceptibility:

62 (show all 70)
id Symbol AA change Variation ID SNP ID
1AKT1p.Glu17LysVAR_055422rs121434592
2BRCA1p.Leu22SerVAR_007756
3BRCA1p.Cys61GlyVAR_007757rs28897672
4BRCA1p.Cys64GlyVAR_007758
5BRCA1p.Val271MetVAR_007761rs80357244
6BRCA1p.Phe461LeuVAR_007765rs56046357
7BRCA1p.Tyr465AspVAR_007766
8BRCA1p.Gly552ValVAR_007768
9BRCA1p.Leu892SerVAR_007775
10BRCA1p.Gly960AspVAR_007776
11BRCA1p.Thr1025IleVAR_007778
12BRCA1p.Val1047AlaVAR_007781
13BRCA1p.Pro1150SerVAR_007782rs80357272
14BRCA1p.Ala1708GluVAR_007796rs28897696
15BRCA1p.Met1775ArgVAR_007799
16BRCA1p.Glu10LysVAR_020679
17BRCA1p.Glu23LysVAR_020680
18BRCA1p.Asp749TyrVAR_020683
19BRCA1p.Ser1187IleVAR_020690
20BRCA1p.Gln1200HisVAR_020691rs56214134
21BRCA1p.Arg1204IleVAR_020692
22BRCA1p.Lys1207AsnVAR_020693
23BRCA1p.Ser1217TyrVAR_020695
24BRCA1p.Arg1699TrpVAR_020703
25BRCA1p.Met1775LysVAR_063212
26BRCA2p.Phe32LeuVAR_005085
27BRCA2p.Lys53ArgVAR_005086
28BRCA2p.Phe81LeuVAR_005088
29BRCA2p.Pro201ArgVAR_005089
30BRCA2p.Val211AlaVAR_005090
31BRCA2p.Pro222SerVAR_005091
32BRCA2p.Cys554TrpVAR_005095
33BRCA2p.Asp728AlaVAR_005097
34BRCA2p.Gly2274ValVAR_005105
35BRCA2p.His2415AsnVAR_005106
36BRCA2p.Gln2421HisVAR_005107
37BRCA2p.Met3118ThrVAR_005110
38BRCA2p.Thr3357ArgVAR_005111
39BRCA2p.Glu2089AspVAR_008783
40BRCA2p.Thr2722ArgVAR_018661
41BRCA2p.Ser1179AsnVAR_020715
42BRCA2p.Cys1580TyrVAR_020719
43BRCA2p.Thr1679IleVAR_020720
44BRCA2p.Val1804AlaVAR_020721
45BRCA2p.Glu1901LysVAR_020722
46BRCA2p.Ser2072CysVAR_020725
47BRCA2p.Tyr2094CysVAR_020726
48BRCA2p.Pro2096LeuVAR_020727
49BRCA2p.Lys2128AsnVAR_020729
50BRCA2p.Val2728IleVAR_020736rs28897749
51BRCA2p.Lys2729AsnVAR_020737rs80359065
52BRCA2p.Asn3124IleVAR_020743
53BRCA2p.Lys3196GluVAR_020744rs80359228
54BRCA2p.Gly25ArgVAR_028167
55BRCA2p.Trp31CysVAR_028168
56BRCA2p.Trp31ArgVAR_028169
57BRCA2p.Thr64IleVAR_032712
58BRCA2p.Ser326ArgVAR_032717rs28897706
59BRCA2p.Ile505ThrVAR_032718rs28897708
60BRCA2p.Ile729MetVAR_032719
61BRCA2p.Lys1690AsnVAR_032722
62BRCA2p.Asn1730TyrVAR_032723
63BRCA2p.Thr1887MetVAR_032724
64BRCA2p.Asn2135HisVAR_032728
65BRCA2p.Tyr2222CysVAR_032729
66BRCA2p.Gln2456GluVAR_032731
67BRIP1p.Pro47AlaVAR_020896rs28903098
68BRIP1p.Met299IleVAR_020900
69NBNp.Leu150PheVAR_025795
70RAD51p.Arg150GlnVAR_010899rs121917739

Expression for genes affiliated with Breast Cancer Susceptibility

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
12EMD Millipore, 51QIAGEN, 29KEGG, 53Reactome, 37NCBI BioSystems Database, 4Cell Signaling Technology
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Pathways related to Breast Cancer Susceptibility according to GeneCards/GeneDecks:

(show all 20)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5RAD51, BRCA1
29.5BRCA1, RAD51
3
Hide members
9.4BRCA1, NBN
4
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9.4BRCA1, NBN
59.4BRCA1, NBN
6
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9.4BRCA2, RAD51
7
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9.4RAD51, BRCA2
8
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9.0NBN, BRCA1, RAD51
98.9BRCA1, RAD51, BRCA2
10
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8.9BRCA1, RAD51, BRCA2
11
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8.9BRCA1, BRCA2, RAD51
128.9RAD51, BRCA2, BRCA1
138.9RAD51, BRCA2, BRCA1
14
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8.9NBN, RAD51, BRCA2
15
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8.4RAD51, BRCA1, BRCA2, NBN
16
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8.4NBN, BRCA1, BRCA2, RAD51
17
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8.4NBN, RAD51, BRCA2, BRCA1
188.1BRCA2, BRCA1, RAD51, BRIP1
19
DNA damage Role of Brca1 and Brca2 in DNA repair
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7.5BRCA2, RAD51, NBN, BRIP1, BRCA1
20
Hide members
7.5BRIP1, RAD51, NBN, BRCA2, BRCA1

Compounds for genes affiliated with Breast Cancer Susceptibility

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Sources:
44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB, 59Tocris Bioscience, 28IUPHAR, 2BitterDB
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Compounds related to Breast Cancer Susceptibility according to GeneCards/GeneDecks:

(show all 32)
idCompoundScoreTop Affiliating Genes
1aphidicolin449.8RAD51, BRCA1
2o6-methylguanine449.7RAD51, BRCA2
3gemcitabine44 49 1111.7RAD51, BRCA1
4daidzein449.7BRCA1, BRCA2
5cytosine44 2410.7RAD51, BRCA1
68-oxoguanine449.7BRCA1, BRCA2
7lycopene44 2410.7BRCA2, BRCA1
8indole-3-carbinol449.7BRCA2, BRCA1
94-hydroxytamoxifen449.6BRCA2, BRCA1
10thymidylate449.6RAD51, BRCA1
11bleomycin44 1110.6BRCA2, BRCA1
12adpribose449.6BRCA2, BRCA1
13p003449.5BRCA2, BRCA1
14vincristine44 49 1111.5BRCA1, BRCA2
15p002449.4BRCA1, BRCA2
16docetaxel44 49 59 1112.3BRCA2, BRCA1
17gold449.3BRCA1, BRCA2, RAD51
18polyacrylamide449.2RAD51, BRCA2, BRCA1
19resveratrol44 59 11 2412.2BRCA2, BRCA1
20paclitaxel44 49 1111.2BRCA1, BRCA2, RAD51
21caffeine44 49 28 2 11 2414.2RAD51, BRCA1
22cisplatin44 49 59 1112.2BRCA1, BRCA2, RAD51
23thymidine44 2410.2RAD51, BRCA2, BRCA1
24cycloheximide449.2BRCA1, BRCA2, RAD51
25h2o2449.2BRCA1, BRCA2, RAD51
26oligonucleotide449.1BRCA1, BRCA2, RAD51
27phosphatidylinositol448.8BRCA1, BRCA2, NBN
28methylmethanesulfonate448.8NBN, RAD51, BRCA2, BRCA1
29hydroxyurea44 49 1110.7BRCA1, BRCA2, RAD51, NBN
30mitomycin c448.7BRCA1, BRCA2, RAD51, NBN
31camptothecin44 59 1110.7BRCA1, BRCA2, RAD51, NBN
32etoposide44 49 59 1111.7NBN, RAD51, BRCA2, BRCA1

GO Terms for genes affiliated with Breast Cancer Susceptibility

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Sources:
16Gene Ontology
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Cellular components related to Breast Cancer Susceptibility according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1PML bodyGO:0166059.2NBN, RAD51
2nucleoplasmGO:0056548.3NBN, BRCA1, BRCA2, RAD51
3nucleusGO:0056347.5BRCA1, BRCA2, BRIP1, RAD51, NBN

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

idNameGO IDScoreTop Affiliating Genes
1meiosisGO:0071269.5NBN, RAD51
2DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:0069789.2BRCA2, BRCA1
3DNA damage checkpointGO:0000778.8NBN, BRIP1
4double-strand break repair via homologous recombinationGO:0007248.4NBN, RAD51, BRCA2, BRCA1
5DNA repairGO:0062818.4BRCA2, RAD51, NBN, BRCA1
6double-strand break repairGO:0063027.6BRCA1, BRCA2, BRIP1, RAD51, NBN

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

idNameGO IDScoreTop Affiliating Genes
1single-stranded DNA bindingGO:0036979.4RAD51, BRCA2
2damaged DNA bindingGO:0036849.2NBN, RAD51
3ATP-dependent DNA helicase activityGO:0040039.0NBN, BRIP1

Products for genes affiliated with Breast Cancer Susceptibility

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Breast Cancer Susceptibility

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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