MCID: BRS072
MIFTS: 39

Breast-Ovarian Cancer, Familial, 2 malady

Reproductive, Cancer, Genetic categories

Summaries for Breast-Ovarian Cancer, Familial, 2

Sources:
47OMIM, 33MalaCards
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MalaCards: Breast-Ovarian Cancer, Familial, 2, also known as hereditary breast and ovarian cancer syndrome, is related to bilateral breast cancer and colorectal 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:47 612555, 613399, 614291, 604370, 114480 600048, 605365 more

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

Sources:
49Orphanet, 47OMIM, 26ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
hereditary breast and ovarian cancer syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-5/10000; Age of onset: Variable


Aliases & Descriptions:

breast-ovarian cancer, familial, 2 47
hereditary breast and ovarian cancer syndrome 49
hereditary breast carcinoma 49
familial breast carcinoma 49
hereditary breast cancer 49
familial breast cancer 49


External Ids:

ICD10 via Orphanet26 C50, C56

Related Diseases for Breast-Ovarian Cancer, Familial, 2

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Breast-Ovarian Cancer, Familial, 2 family:

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 63)
idRelated DiseaseScoreTop Affiliating Genes
1bilateral breast cancer30.5CHEK2, BRCA2, BRCA1, RAD51
2colorectal cancer30.3PTEN, BRCA2, CHEK2, RAD50, BRCA1, MRE11A
3fanconi's anemia30.2PALB2, BRCA2, BRIP1
4male breast cancer30.2BRCA1, BRCA2
5ataxia telangiectasia30.2MRE11A, RAD51, NBN, BRCA1, CHEK2, BRCA2
6thyroid cancer30.0PTEN
7bloom syndrome30.0BRCA1, BRCA2, RAD51
8cowden disease30.0BRCA1, BRCA2, PTEN
9werner syndrome30.0NBN, BRCA1, MRE11A
10familial breast cancer11.3
11breast cancer susceptibility10.6
12sporadic breast cancer10.6
13breast cancer, early-onset10.6
14hereditary breast ovarian cancer10.3
15breast reconstruction10.2
16ataxia10.2
17hereditary angioedema10.1
18angioedema10.1
19bannayan-riley-ruvalcaba syndrome10.0
20nevoid basal cell carcinoma syndrome10.0
21n syndrome10.0
22basal cell carcinoma10.0
23nevo syndrome10.0
24familial prostate cancer10.0
25oral cancer10.0
26ruvalcaba syndrome10.0
27soft tissue sarcoma10.0
28breast cancer, somatic10.0
29germ cell cancer10.0
30pancreatitis10.0BRCA2
31lung cancer10.0PTEN
32meningioma10.0PTEN
33medulloblastoma10.0BRCA2
34multiple endocrine neoplasia10.0BRCA2
35sarcoma10.0CHEK2, BRCA2
36glioblastoma multiforme10.0PTEN, CHEK2
37early-onset ataxia with oculomotor apraxia and hypoalbuminemia10.0MRE11A, NBN
38prostate cancer10.0CHEK2, PTEN
39myelodysplastic syndromes10.0CHEK2
40xeroderma pigmentosum10.0BRCA1
41microcephaly10.0NBN, RAD50, MRE11A
42brca1 and brca2 hereditary breast and ovarian cancer10.0BRCA1, BRCA2
43dysgerminoma10.0BRCA1, BRCA2
44fallopian tube cancer10.0BRCA2, BRCA1
45lynch syndrome10.0BRCA1, BRCA2
46astrocytoma10.0PTEN, BRCA1
47deficiency anemia10.0BRCA1, BRIP1
48ductal carcinoma in situ10.0BRCA1, BRCA2
49familial colorectal cancer10.0PTEN, BRCA2, BRCA1
50pancreatic cancer10.0RAD51, BRCA1, BRCA2

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

Sources:
47OMIM
See all sources

Clinical features from OMIM:

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

Clinical synopsis from OMIM:

612555

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

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

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

Anatomical Context for Breast-Ovarian Cancer, Familial, 2

Sources:
33MalaCards
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MalaCards organs/tissues related to Breast-Ovarian Cancer, Familial, 2:

33
Breast

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

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

Publications for Breast-Ovarian Cancer, Familial, 2

Genetic Variations for Breast-Ovarian Cancer, Familial, 2

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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

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

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
49.5MRE11A, RAD50, NBN
59.3BRCA1, CHEK2
6
Hide members
9.2PTEN, BRCA1, BRCA2
7
Hide members
9.0BRCA1, PTEN, CHEK2
8
Hide members
8.7BRCA1, NBN, MRE11A, RAD50
9
Hide members
8.7RAD50, NBN, BRCA1, MRE11A
108.7BRCA1, CHEK2, NBN, BARD1
118.5BRCA1, RAD51C, RAD51, RAD51D
128.3CHEK2, RAD51, MRE11A, BRCA1, RAD50
13
Hide members
8.2BRCA1, BRCA2, NBN, MRE11A, RAD50, RAD51
14
Hide members
8.2BRCA1, BRCA2, MRE11A, RAD51, RAD50, NBN
15
Hide members
8.1RAD50, RAD51, MRE11A, BARD1, BRCA2, BRCA1
168.1RAD51C, PALB2, BRCA1, RAD51, BRIP1, BRCA2
17
Hide members
8.0RAD50, BARD1, CHEK2, BRCA1, MRE11A, PTEN
18
Hide members
7.9BRCA2, PALB2, NBN, RAD50, RAD51, MRE11A
197.8CHEK2, PTEN, RAD50, RAD51, BRCA2, BRCA1
20
Hide members
7.8CHEK2, MRE11A, BRCA1, RAD51, PTEN, NBN
21
Hide members
7.7RAD51, BARD1, BRCA2, BRCA1, MRE11A, CHEK2
227.7RAD50, BRCA1, BARD1, BRCA2, MRE11A, CHEK2
23
Hide members
7.5RAD51D, MRE11A, NBN, RAD50, RAD51, RAD51C
247.5BRCA2, BRCA1, BARD1, PTEN, RAD50, RAD51
25
Hide members
7.3BRCA1, BRIP1, MRE11A, CHEK2, RAD51, RAD50
26
DNA damage Role of Brca1 and Brca2 in DNA repair
Hide members
7.0BRIP1, BRCA1, RAD50, RAD51, BARD1, CHEK2

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

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

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

(show all 28)
idCompoundScoreTop Affiliating Genes
1adriamycin4510.3CHEK2
2estrogen4510.2BARD1
3tin(2+)459.9NBN, RAD50, MRE11A
4mononucleotide459.6MRE11A, RAD50, PTEN, NBN
5o6-methylguanine459.6BRCA2, RAD51
68-oxoguanine459.6BRCA2, BRCA1
7daidzein459.5BRCA2, BRCA1
8indole-3-carbinol459.5PTEN, BRCA2, BRCA1
9bpde459.5BRCA1, CHEK2
10vincristine45 50 1111.5PTEN, BRCA2, BRCA1
11gold459.3RAD51, BRCA2, BRCA1
12lycopene45 2410.3BRCA2, BRCA1
13aphidicolin459.3BRCA1, CHEK2, RAD51
14paclitaxel45 50 1111.2BRCA1, BRCA2, RAD51, PTEN
15gemcitabine45 50 1111.1BRCA1, CHEK2, RAD51, PTEN
16doxorubicin45 50 1111.1BRCA1, CHEK2, PTEN, NBN
17genistein45 29 60 2 11 2414.0BRCA1, BRCA2, CHEK2, PTEN
18methylmethanesulfonate459.0BRCA1, BRCA2, RAD51, RAD50, NBN
19cycloheximide458.9PTEN, RAD51, BRCA2, BRCA1
20phosphatidylinositol458.8BRCA1, BRCA2, CHEK2, PTEN, NBN
21oligonucleotide458.8PTEN, RAD51, CHEK2, BRCA2, BRCA1
22caffeine45 50 29 2 11 2413.7RAD51, CHEK2, XRCC2, BRCA1
23etoposide45 50 60 1111.6BRCA1, BRCA2, CHEK2, RAD51, PTEN, NBN
24hydroxyurea45 50 1110.6BRCA1, BRCA2, CHEK2, RAD51, RAD50, NBN
25atp45 299.5BRCA1, CHEK2, RAD51, RAD50, PTEN
26cisplatin45 50 60 1111.2BRCA1, BRCA2, XRCC2, CHEK2, RAD51, PTEN
27mitomycin c458.2BRCA1, BRCA2, MRE11A, XRCC2, RAD51, NBN
28camptothecin45 60 119.2NBN, BRCA1, BRCA2, MRE11A, XRCC2, CHEK2

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

Sources:
16Gene Ontology
See all sources

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:00183310.1BRCA2, PALB2
2regulation of mitotic recombinationGO:00001910.0RAD50, MRE11A
3telomere maintenance via telomeraseGO:0070049.9MRE11A, RAD50
4positive regulation of kinase activityGO:0336749.8MRE11A, RAD50, NBN
5male meiosis IGO:0071419.8RAD51C, BRCA2
6positive regulation of protein autophosphorylationGO:0319549.8NBN, RAD50, MRE11A
7DNA duplex unwindingGO:0325089.8MRE11A, NBN, RAD50
8sister chromatid cohesionGO:0070629.7MRE11A, RAD51C
9DNA damage checkpointGO:0000779.6CHEK2, BRIP1, NBN
10response to gamma radiationGO:0103329.5BRCA2, XRCC2, CHEK2
11meiosisGO:0071269.5RAD51, XRCC2, NBN
12DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:0069789.5BRCA2, BRCA1
13protein K6-linked ubiquitinationGO:0850209.5BARD1, BRCA1
14DNA recombinationGO:0063109.4MRE11A, RAD50, RAD51, RAD51C
15response to X-rayGO:0101659.3BRCA2, XRCC2
16intrinsic apoptotic signaling pathway in response to DNA damageGO:0086309.3BRCA1, CHEK2
17reciprocal meiotic recombinationGO:0071319.0MRE11A, RAD51C, RAD51, RAD51D, RAD50
18response to DNA damage stimulusGO:0069748.3MRE11A, BRCA1, CHEK2, BARD1, RAD51, RAD50
19double-strand break repairGO:0063027.7NBN, RAD50, RAD51, CHEK2, MRE11A, BRIP1
20double-strand break repair via homologous recombinationGO:0007247.6NBN, PALB2, RAD50, RAD51, XRCC2, MRE11A
21DNA repairGO:0062816.4RAD51D, RAD51, RAD51C, BARD1, XRCC2, MRE11A

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:0080949.0RAD51C, RAD51D, XRCC2
5ATP bindingGO:0055247.5RAD50, RAD51, RAD51C, CHEK2, XRCC2, BRIP1
6DNA bindingGO:0036776.3RAD51C, KLLN, BRCA1, BRIP1, MRE11A, XRCC2
7protein bindingGO:0055155.2BRCA1, PALB2, PTEN, NBN, RAD51D, RAD50

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Breast-Ovarian Cancer, Familial, 2

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