MCID: BRS072
MIFTS: 46

Breast-Ovarian Cancer, Familial, 2 malady

Reproductive diseases, Cancer diseases, Genetic diseases categories

Summaries for Breast-Ovarian Cancer, Familial, 2

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46OMIM, 32MalaCards
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MalaCards: Breast-Ovarian Cancer, Familial, 2, also known as hereditary breast and ovarian cancer syndrome, is related to breast cancer and bilateral breast cancer. An important gene associated with Breast-Ovarian Cancer, Familial, 2 is BRCA2 (breast cancer 2, early onset), and among its related pathways are Fanconi Anemia pathway and Assembly of the RAD51-ssDNA nucleoprotein complex. The compounds adriamycin and estrogen have been mentioned in the context of this disorder. Affiliated tissues include breast, and related mouse phenotypes are tumorigenesis and nervous system.

Description from OMIM:46 612555, 613399, 614291, 604370, 114480 600048, 605365 more

Aliases & Classifications for Breast-Ovarian Cancer, Familial, 2

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Sources:
48Orphanet, 46OMIM, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
hereditary breast and ovarian cancer syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-5/10000; Age of onset: Variable


Aliases & Descriptions:

breast-ovarian cancer, familial, 2 46
hereditary breast and ovarian cancer syndrome 48
hereditary breast carcinoma 48
familial breast carcinoma 48
hereditary breast cancer 48
familial breast cancer 48


External Ids:

ICD10 via Orphanet26 C50, C56
SNOMED-CT via Orphanet57 254843006

Related Diseases for Breast-Ovarian Cancer, Familial, 2

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Breast-Ovarian Cancer, Familial, 2 family:

Rad51c-Related Familial Susceptibility to Breast-Ovarian Cancer Rad51d-Related Familial Susceptibility to Breast-Ovarian Cancer
Breast-Ovarian Cancer, Familial 4 Breast-Ovarian Cancer, Familial, 1
Breast-Ovarian Cancer, Familial 3

Diseases related to Breast-Ovarian Cancer, Familial, 2 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 61)
idRelated DiseaseScoreTop Affiliating Genes
1breast cancer31.9PTEN, CHEK2, BRCA2, BRCA1, NBN, RAD51
2bilateral breast cancer30.4CHEK2, BRCA2, BRCA1, RAD51
3colorectal cancer30.2PTEN, BRCA2, CHEK2, RAD50, BRCA1, MRE11A
4male breast cancer30.2BRCA1, BRCA2
5ataxia telangiectasia30.2MRE11A, RAD51, NBN, BRCA1, CHEK2, BRCA2
6brca1 and brca2 hereditary breast and ovarian cancer30.0BRCA1, BRCA2
7ductal carcinoma in situ30.0BRCA1, BRCA2
8pancreatitis30.0BRCA2
9sarcoma30.0CHEK2, BRCA2
10prostate cancer30.0CHEK2, PTEN
11thyroid cancer30.0PTEN
12bloom syndrome30.0BRCA1, BRCA2, RAD51
13cowden disease30.0BRCA1, BRCA2, PTEN
14pancreatic cancer30.0RAD51, BRCA1, BRCA2
15werner syndrome30.0NBN, BRCA1, MRE11A
16colon cancer30.0BRCA2, CHEK2, RAD51, PTEN, BRCA1
17ovarian cancer29.9NBN, PTEN, PALB2, RAD51, RAD51C, BRCA1
18sporadic breast cancer10.6
19breast disease10.4
20familial breast cancer10.3
21hereditary breast ovarian cancer10.3
22breast reconstruction10.2
23chromosomal disease10.2
24hereditary angioedema10.0
25angioedema10.0
26breast carcinoma in situ10.0
27in situ carcinoma10.0
28williams syndrome10.0
29bannayan-riley-ruvalcaba syndrome10.0
30nevoid basal cell carcinoma syndrome10.0
31basal cell carcinoma10.0
32breast fibroadenoma10.0
33breast sarcoma10.0
34prostatitis10.0
35thyroiditis10.0
36lung cancer10.0PTEN
37meningioma10.0PTEN
38medulloblastoma10.0BRCA2
39multiple endocrine neoplasia10.0BRCA2
40glioblastoma multiforme10.0PTEN, CHEK2
41early-onset ataxia with oculomotor apraxia and hypoalbuminemia10.0MRE11A, NBN
42myelodysplastic syndromes10.0CHEK2
43xeroderma pigmentosum10.0BRCA1
44fanconi's anemia10.0PALB2, BRCA2, BRIP1
45microcephaly10.0NBN, RAD50, MRE11A
46dysgerminoma10.0BRCA1, BRCA2
47fallopian tube cancer10.0BRCA2, BRCA1
48lynch syndrome10.0BRCA1, BRCA2
49astrocytoma10.0PTEN, BRCA1
50deficiency anemia10.0BRCA1, BRIP1

Graphical network of the top 20 diseases related to Breast-Ovarian Cancer, Familial, 2:



Diseases related to breast-ovarian cancer, familial, 2

Clinical Features for Breast-Ovarian Cancer, Familial, 2

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46OMIM
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Clinical features from OMIM:

612555,613399,614291,604370,114480,600048,605365

Clinical synopsis from OMIM:

612555

Drugs & Therapeutics for Breast-Ovarian Cancer, Familial, 2

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Breast-Ovarian Cancer, Familial, 2

Drug clinical trials:

Search ClinicalTrials for Breast-Ovarian Cancer, Familial, 2

Search NIH Clinical Center for Breast-Ovarian Cancer, Familial, 2

Search CenterWatch for Breast-Ovarian Cancer, Familial, 2

Genetic Tests for Breast-Ovarian Cancer, Familial, 2

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Anatomical Context for Breast-Ovarian Cancer, Familial, 2

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32MalaCards
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MalaCards organs/tissues related to Breast-Ovarian Cancer, Familial, 2:

32
Breast

Animal Models for Breast-Ovarian Cancer, Familial, 2 or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Breast-Ovarian Cancer, Familial, 2:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.2CHEK2, BARD1, RAD50, PALB2, PTEN
2MP:00036319.0MRE11A, BARD1, RAD51D, PALB2
3MP:00053798.8NBN, RAD51C, BRCA2, BRCA1
4MP:00053808.8PALB2, RAD51D, RAD51C, BARD1, MRE11A
5MP:00053898.5BRCA1, BRCA2, RAD51C, PTEN, NBN
6MP:00053717.8BRCA1, BRCA2, XRCC2, RAD51D, PALB2, PTEN
7MP:00053977.6BRCA1, BRCA2, MRE11A, CHEK2, RAD50, PTEN
8MP:00053786.4BRCA1, BRCA2, XRCC2, BARD1, RAD51C, RAD51
9MP:00053846.0CHEK2, XRCC2, MRE11A, BRCA2, BRCA1, BARD1
10MP:00107685.7BRCA1, BRCA2, MRE11A, XRCC2, CHEK2, BARD1

Publications for Breast-Ovarian Cancer, Familial, 2

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Genetic Variations for Breast-Ovarian Cancer, Familial, 2

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Expression for genes affiliated with Breast-Ovarian Cancer, Familial, 2

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Breast-Ovarian Cancer, Familial, 2

Search GEO for disease gene expression data for Breast-Ovarian Cancer, Familial, 2.

Pathways for genes affiliated with Breast-Ovarian Cancer, Familial, 2

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Sources:
53Reactome, 37NCBI BioSystems Database, 51QIAGEN, 12EMD Millipore, 29KEGG, 55SinoBiological, 4Cell Signaling Technology
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Pathways related to Breast-Ovarian Cancer, Familial, 2 according to GeneCards/GeneDecks:

(show all 26)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.0PALB2, NBN
2
Hide members
9.9RAD51, BRCA2
39.8MRE11A, RAD50
49.5NBN, RAD50, MRE11A
59.3CHEK2, BRCA1
6
Hide members
9.2PTEN, BRCA2, BRCA1
7
Hide members
9.0PTEN, CHEK2, BRCA1
8
Hide members
8.7BRCA1, MRE11A, RAD50, NBN
9
Hide members
8.7NBN, RAD50, MRE11A, BRCA1
108.7BRCA1, CHEK2, BARD1, NBN
118.5RAD51D, RAD51, RAD51C, BRCA1
128.3BRCA1, MRE11A, CHEK2, RAD51, RAD50
13
Hide members
8.2BRCA1, BRCA2, MRE11A, RAD51, RAD50, NBN
14
Hide members
8.2BRCA1, BRCA2, MRE11A, RAD51, RAD50, NBN
15
Hide members
8.1BRCA1, BRCA2, MRE11A, BARD1, RAD51, RAD50
168.1BRCA1, BRCA2, BRIP1, RAD51C, RAD51, PALB2
17
Hide members
8.0BRCA1, MRE11A, CHEK2, BARD1, RAD50, PTEN
18
Hide members
7.9BRCA1, BRCA2, MRE11A, RAD51, RAD50, PALB2
197.8BRCA1, BRCA2, MRE11A, CHEK2, RAD51, RAD50
20
Hide members
7.8BRCA1, MRE11A, CHEK2, RAD51, RAD50, PTEN
21
Hide members
7.7BRCA1, BRCA2, MRE11A, CHEK2, BARD1, RAD51
227.7BRCA1, BRCA2, MRE11A, CHEK2, BARD1, RAD51
23
Hide members
7.5BRCA2, MRE11A, XRCC2, RAD51C, RAD51, RAD51D
247.5BRCA1, BRCA2, MRE11A, CHEK2, BARD1, RAD51
25
Hide members
7.3BRCA1, BRCA2, BRIP1, MRE11A, CHEK2, RAD51
26
DNA damage Role of Brca1 and Brca2 in DNA repair
Hide members
7.0NBN, BRCA1, RAD50, RAD51, BARD1, CHEK2

Compounds for genes affiliated with Breast-Ovarian Cancer, Familial, 2

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

(show all 28)
idCompoundScoreTop Affiliating Genes
1adriamycin4410.3CHEK2
2estrogen4410.2BARD1
3tin(2+)449.9NBN, RAD50, MRE11A
4mononucleotide449.6MRE11A, RAD50, PTEN, NBN
5o6-methylguanine449.6BRCA2, RAD51
68-oxoguanine449.6BRCA2, BRCA1
7daidzein449.5BRCA2, BRCA1
8indole-3-carbinol449.5PTEN, BRCA2, BRCA1
9bpde449.5BRCA1, CHEK2
10vincristine44 49 1111.5PTEN, BRCA2, BRCA1
11gold449.3RAD51, BRCA2, BRCA1
12lycopene44 2410.3BRCA2, BRCA1
13aphidicolin449.3BRCA1, CHEK2, RAD51
14paclitaxel44 49 1111.2BRCA1, BRCA2, RAD51, PTEN
15gemcitabine44 49 1111.1BRCA1, CHEK2, RAD51, PTEN
16doxorubicin44 49 1111.1BRCA1, CHEK2, PTEN, NBN
17genistein44 28 59 2 11 2414.0BRCA1, BRCA2, CHEK2, PTEN
18methylmethanesulfonate449.0BRCA1, BRCA2, RAD51, RAD50, NBN
19cycloheximide448.9PTEN, RAD51, BRCA2, BRCA1
20phosphatidylinositol448.8BRCA1, BRCA2, CHEK2, PTEN, NBN
21oligonucleotide448.8PTEN, RAD51, CHEK2, BRCA2, BRCA1
22caffeine44 49 28 2 11 2413.7RAD51, CHEK2, XRCC2, BRCA1
23etoposide44 49 59 1111.6BRCA1, BRCA2, CHEK2, RAD51, PTEN, NBN
24hydroxyurea44 49 1110.6BRCA1, BRCA2, CHEK2, RAD51, RAD50, NBN
25atp44 289.5BRCA1, CHEK2, RAD51, RAD50, PTEN
26cisplatin44 49 59 1111.2BRCA1, BRCA2, XRCC2, CHEK2, RAD51, PTEN
27mitomycin c448.2BRCA1, BRCA2, MRE11A, XRCC2, RAD51, NBN
28camptothecin44 59 119.2NBN, BRCA1, BRCA2, MRE11A, XRCC2, CHEK2

GO Terms for genes affiliated with Breast-Ovarian Cancer, Familial, 2

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16Gene Ontology
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Cellular components related to Breast-Ovarian Cancer, Familial, 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nuclear chromosome, telomeric regionGO:0007849.9NBN, RAD50
2Mre11 complexGO:0308709.7MRE11A, RAD50, NBN
3site of double-strand breakGO:0358619.6NBN, RAD50, MRE11A
4PML bodyGO:0166059.4CHEK2, RAD51, PTEN, NBN
5BRCA1-BARD1 complexGO:0314369.2BRCA1, BARD1
6BRCA1-A complexGO:0705319.0BARD1, BRCA1
7nucleoplasmGO:0056547.4NBN, BRCA1, BRCA2, MRE11A, CHEK2, RAD51C
8nucleusGO:0056345.4KLLN, BRCA1, BRCA2, BRIP1, MRE11A, XRCC2

Biological processes related to Breast-Ovarian Cancer, Familial, 2 according to GeneCards/GeneDecks:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1inner cell mass cell proliferationGO:00183310.1PALB2, BRCA2
2regulation of mitotic recombinationGO:00001910.0RAD50, MRE11A
3telomere maintenance via telomeraseGO:0070049.9RAD50, MRE11A
4positive regulation of kinase activityGO:0336749.8MRE11A, RAD50, NBN
5male meiosis IGO:0071419.8RAD51C, BRCA2
6positive regulation of protein autophosphorylationGO:0319549.8NBN, RAD50, MRE11A
7sister chromatid cohesionGO:0070629.8MRE11A, RAD51C
8DNA duplex unwindingGO:0325089.8MRE11A, RAD50, NBN
9DNA damage checkpointGO:0000779.6BRIP1, CHEK2, NBN
10response to gamma radiationGO:0103329.5CHEK2, XRCC2, BRCA2
11meiosisGO:0071269.5XRCC2, RAD51, NBN
12protein K6-linked ubiquitinationGO:0850209.5BARD1, BRCA1
13DNA recombinationGO:0063109.4RAD50, RAD51, RAD51C, MRE11A
14DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:0069789.4BRCA1, BRCA2
15response to X-rayGO:0101659.3XRCC2, BRCA2
16intrinsic apoptotic signaling pathway in response to DNA damageGO:0086309.3CHEK2, BRCA1
17reciprocal meiotic recombinationGO:0071319.0MRE11A, RAD51C, RAD51, RAD51D, RAD50
18response to DNA damage stimulusGO:0069748.3RAD50, RAD51, BARD1, CHEK2, MRE11A, BRCA1
19double-strand break repairGO:0063027.7NBN, RAD50, RAD51, CHEK2, MRE11A, BRIP1
20double-strand break repair via homologous recombinationGO:0007247.6XRCC2, MRE11A, BRCA2, BRCA1, RAD51, RAD50
21DNA repairGO:0062816.4NBN, PALB2, RAD50, RAD51D, RAD51, RAD51C

Molecular functions related to Breast-Ovarian Cancer, Familial, 2 according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
13-5 exonuclease activityGO:0084089.8RAD50, MRE11A
2single-stranded DNA endodeoxyribonuclease activityGO:0000149.5RAD50, MRE11A
3ATP-dependent DNA helicase activityGO:0040039.2BRIP1, MRE11A, RAD50, NBN
4DNA-dependent ATPase activityGO:0080949.0XRCC2, RAD51C, RAD51D
5ATP bindingGO:0055247.5BRIP1, XRCC2, CHEK2, RAD51C, RAD51, RAD51D
6DNA bindingGO:0036776.3KLLN, BRCA1, BRIP1, MRE11A, XRCC2, RAD51C
7protein bindingGO:0055155.2NBN, BRCA1, BRCA2, BRIP1, MRE11A, XRCC2

Products for genes affiliated with Breast-Ovarian Cancer, Familial, 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Breast-Ovarian Cancer, Familial, 2

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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