BROVCA2
MCID: BRS072
MIFTS: 17

Breast-Ovarian Cancer, Familial, 2 (BROVCA2) malady

Categories: Genetic diseases, Cancer diseases, Reproductive diseases, Rare diseases

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

Aliases & Descriptions for Breast-Ovarian Cancer, Familial, 2:

Name: Breast-Ovarian Cancer, Familial, 2 54 66 13
Ovarian Cancer Familial 2 66
Breast Cancer Familial 2 66
Brovca2 66

Characteristics:

HPO:

32
breast-ovarian cancer, familial, 2:
Inheritance autosomal dominant inheritance multifactorial inheritance


Classifications:



External Ids:

OMIM 54 612555

Summaries for Breast-Ovarian Cancer, Familial, 2

UniProtKB/Swiss-Prot : 66 Breast-ovarian cancer, familial, 2: A condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate.

MalaCards based summary : Breast-Ovarian Cancer, Familial, 2, also known as ovarian cancer familial 2, is related to brca2 hereditary breast and ovarian cancer syndrome, and has symptoms including breast carcinoma An important gene associated with Breast-Ovarian Cancer, Familial, 2 is BRCA2 (BRCA2, DNA Repair Associated). Affiliated tissues include breast, prostate and ovary.

Description from OMIM: 612555

Related Diseases for Breast-Ovarian Cancer, Familial, 2

Diseases in the Hereditary Breast Ovarian Cancer family:

Breast-Ovarian Cancer, Familial, 2 Breast-Ovarian Cancer, Familial 4
Breast-Ovarian Cancer, Familial, 1 Breast-Ovarian Cancer, Familial 3
Rad51c-Related Familial Susceptibility to Breast-Ovarian Cancer Rad51d-Related Familial Susceptibility to Breast-Ovarian Cancer

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

id Related Disease Score Top Affiliating Genes
1 brca2 hereditary breast and ovarian cancer syndrome 10.8

Symptoms & Phenotypes for Breast-Ovarian Cancer, Familial, 2

Symptoms by clinical synopsis from OMIM:

612555

Clinical features from OMIM:

612555

Human phenotypes related to Breast-Ovarian Cancer, Familial, 2:

32
id Description HPO Frequency HPO Source Accession
1 breast carcinoma 32 HP:0003002

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

Interventional clinical trials:


id Name Status NCT ID Phase
1 Risk Education and Assessment for Cancer Heredity Completed NCT01346761

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

Genetic Tests for Breast-Ovarian Cancer, Familial, 2

Anatomical Context for Breast-Ovarian Cancer, Familial, 2

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

39
Breast, Prostate, Ovary

Publications for Breast-Ovarian Cancer, Familial, 2

Variations for Breast-Ovarian Cancer, Familial, 2

ClinVar genetic disease variations for Breast-Ovarian Cancer, Familial, 2:

6 (show top 50) (show all 2382)
id Gene Variation Type Significance SNP ID Assembly Location
1 BRCA2 BRCA2, 4-BP DEL, NT3034 deletion Pathogenic
2 BRCA2 BRCA2, 6-BP DEL, PHE-TER deletion Pathogenic
3 BRCA2 NM_000059.3(BRCA2): c.6275_6276delTT (p.Leu2092Profs) deletion Pathogenic rs11571658 GRCh37 Chromosome 13, 32914767: 32914768
4 BRCA2 NM_000059.3(BRCA2): c.6591_6592delTG (p.Glu2198Asnfs) deletion Pathogenic rs80359605 GRCh37 Chromosome 13, 32915083: 32915084
5 BRCA2 NM_000059.3(BRCA2): c.5722_5723delCT (p.Leu1908Argfs) deletion Pathogenic rs80359530 GRCh37 Chromosome 13, 32914214: 32914215
6 BRCA2 BRCA2, 1-BP DEL deletion Pathogenic
7 BRCA2 NM_000059.3(BRCA2): c.2808_2811del4 (p.Ala938Profs) deletion Pathogenic rs80359351 GRCh37 Chromosome 13, 32911300: 32911303
8 BRCA2 BRCA2, 1-BP DEL, 8525C deletion Pathogenic
9 BRCA2 NM_000059.3(BRCA2): c.5946delT (p.Ser1982Argfs) deletion Pathogenic rs80359550 GRCh37 Chromosome 13, 32914438: 32914438
10 BRCA2 NM_000059.3(BRCA2): c.771_775delTCAAA (p.Asn257Lysfs) deletion Pathogenic rs80359671 GRCh37 Chromosome 13, 32905145: 32905149
11 BRCA2 NM_000059.3(BRCA2): c.8537_8538delAG (p.Glu2846Glyfs) deletion Pathogenic rs80359714 GRCh37 Chromosome 13, 32945142: 32945143
12 BRCA2 BRCA2, IVS23AS, A-G, -2 single nucleotide variant Pathogenic
13 BRCA2 NM_000059.3(BRCA2): c.8165C> G (p.Thr2722Arg) single nucleotide variant Pathogenic rs80359062 GRCh37 Chromosome 13, 32937504: 32937504
14 BRCA2 NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs) deletion Pathogenic rs80359604 GRCh37 Chromosome 13, 32903606: 32903607
15 BRCA2 NM_000059.3(BRCA2): c.8219T> A (p.Leu2740Ter) single nucleotide variant Pathogenic rs80359070 GRCh37 Chromosome 13, 32937558: 32937558
16 BRCA2 NM_000059.3(BRCA2): c.4648G> T (p.Glu1550Ter) single nucleotide variant Pathogenic rs80358695 GRCh37 Chromosome 13, 32913140: 32913140
17 BRCA2 NM_000059.3(BRCA2): c.5645C> G (p.Ser1882Ter) single nucleotide variant Pathogenic rs80358785 GRCh37 Chromosome 13, 32914137: 32914137
18 BRCA2 NM_000059.3(BRCA2): c.9196C> T (p.Gln3066Ter) single nucleotide variant Pathogenic rs80359180 GRCh37 Chromosome 13, 32954222: 32954222
19 BRCA2 NM_000059.3(BRCA2): c.631+1G> A single nucleotide variant Pathogenic rs81002897 GRCh37 Chromosome 13, 32900751: 32900751
20 BRCA2 NM_000059.3(BRCA2): c.631+2T> G single nucleotide variant Pathogenic rs81002899 GRCh37 Chromosome 13, 32900752: 32900752
21 BRCA2 NM_000059.3(BRCA2): c.6011_6017delAAGATAG (p.Glu2004Valfs) deletion Pathogenic rs397507362 GRCh38 Chromosome 13, 32340366: 32340372
22 BRCA2 NM_000059.3(BRCA2): c.1029delA (p.Lys343Asnfs) deletion Pathogenic rs80359260 GRCh37 Chromosome 13, 32906644: 32906644
23 BRCA2 NM_000059.3(BRCA2): c.1054dupT (p.Tyr352Leufs) duplication Pathogenic rs80359261 GRCh37 Chromosome 13, 32906669: 32906669
24 BRCA2 NM_000059.3(BRCA2): c.1156delG (p.Glu386Lysfs) deletion Pathogenic rs397507262 GRCh37 Chromosome 13, 32906771: 32906771
25 BRCA2 NM_000059.3(BRCA2): c.1189_1190ins4 insertion Pathogenic rs397515635 GRCh37 Chromosome 13, 32906804: 32906805
26 BRCA2 NM_000059.3(BRCA2): c.1205delG (p.Gly402Valfs) deletion Pathogenic rs397507265 GRCh37 Chromosome 13, 32906820: 32906820
27 BRCA2 NM_000059.3(BRCA2): c.1238delT (p.Leu413Hisfs) deletion Pathogenic rs80359271 GRCh37 Chromosome 13, 32906853: 32906853
28 BRCA2 NM_000059.3(BRCA2): c.1253C> A (p.Ser418Ter) single nucleotide variant Pathogenic rs397507266 GRCh37 Chromosome 13, 32906868: 32906868
29 BRCA2 NM_000059.3(BRCA2): c.1257delT (p.Cys419Trpfs) deletion Pathogenic rs80359272 GRCh37 Chromosome 13, 32906872: 32906872
30 BRCA2 NM_000059.3(BRCA2): c.1265delA (p.Asn422Ilefs) deletion Pathogenic rs80359273 GRCh37 Chromosome 13, 32906880: 32906880
31 BRCA2 NM_000059.3(BRCA2): c.1296_1297delGA (p.Asn433Glnfs) deletion Pathogenic rs80359276 GRCh37 Chromosome 13, 32906911: 32906912
32 BRCA2 NM_000059.3(BRCA2): c.1310_1313delAAGA (p.Lys437Ilefs) deletion Pathogenic rs80359277 GRCh37 Chromosome 13, 32906925: 32906928
33 BRCA2 NM_000059.3(BRCA2): c.1593dupA (p.Glu532Argfs) duplication Pathogenic rs397507272 GRCh37 Chromosome 13, 32907208: 32907208
34 BRCA2 NM_000059.3(BRCA2): c.1755_1759delGAAAA (p.Lys585Asnfs) deletion Pathogenic rs80359302 GRCh37 Chromosome 13, 32907370: 32907374
35 BRCA2 NM_000059.3(BRCA2): c.1796_1800delCTTAT (p.Ser599Terfs) deletion Pathogenic rs276174813 GRCh37 Chromosome 13, 32907411: 32907415
36 BRCA2 NM_000059.3(BRCA2): c.1799A> G (p.Tyr600Cys) single nucleotide variant Pathogenic rs397507276 GRCh37 Chromosome 13, 32907414: 32907414
37 BRCA2 NM_000059.3(BRCA2): c.1800T> A (p.Tyr600Ter) single nucleotide variant Pathogenic rs80358464 GRCh37 Chromosome 13, 32907415: 32907415
38 BRCA2 NM_000059.3(BRCA2): c.1813dupA (p.Ile605Asnfs) duplication Pathogenic rs80359306 GRCh37 Chromosome 13, 32907428: 32907428
39 BRCA2 NM_000059.3(BRCA2): c.1813delA (p.Ile605Tyrfs) deletion Pathogenic rs80359307 GRCh37 Chromosome 13, 32907428: 32907428
40 BRCA2 NM_000059.3(BRCA2): c.1832C> A (p.Ser611Ter) single nucleotide variant Pathogenic rs80358474 GRCh37 Chromosome 13, 32907447: 32907447
41 BRCA2 NM_000059.3(BRCA2): c.1850C> A (p.Ser617Ter) single nucleotide variant Pathogenic rs397507278 GRCh37 Chromosome 13, 32907465: 32907465
42 BRCA2 NM_000059.3(BRCA2): c.1850C> G (p.Ser617Ter) single nucleotide variant Pathogenic rs397507278 GRCh37 Chromosome 13, 32907465: 32907465
43 BRCA2 NM_000059.3(BRCA2): c.1929delG (p.Arg645Glufs) deletion Pathogenic rs80359316 GRCh37 Chromosome 13, 32910421: 32910421
44 BRCA2 NM_000059.3(BRCA2): c.1970T> A (p.Leu657Ter) single nucleotide variant Pathogenic rs397507279 GRCh37 Chromosome 13, 32910462: 32910462
45 BRCA2 NM_000059.3(BRCA2): c.2036delA (p.Asn679Ilefs) deletion Pathogenic rs80359318 GRCh37 Chromosome 13, 32910528: 32910528
46 BRCA2 NM_000059.3(BRCA2): c.2092delC (p.Leu698Tyrfs) deletion Pathogenic rs80359322 GRCh37 Chromosome 13, 32910584: 32910584
47 BRCA2 NM_000059.3(BRCA2): c.2175dupA (p.Val726Serfs) duplication Pathogenic rs276174819 GRCh37 Chromosome 13, 32910667: 32910667
48 BRCA2 NM_000059.3(BRCA2): c.2231C> G (p.Ser744Ter) single nucleotide variant Pathogenic rs397507282 GRCh37 Chromosome 13, 32910723: 32910723
49 BRCA2 NM_000059.3(BRCA2): c.2409T> G (p.Tyr803Ter) single nucleotide variant Pathogenic rs80358504 GRCh37 Chromosome 13, 32910901: 32910901
50 BRCA2 NM_000059.3(BRCA2): c.2426T> G (p.Leu809Ter) single nucleotide variant Pathogenic rs397507285 GRCh37 Chromosome 13, 32910918: 32910918

Expression for Breast-Ovarian Cancer, Familial, 2

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

Pathways for Breast-Ovarian Cancer, Familial, 2

GO Terms for Breast-Ovarian Cancer, Familial, 2

Sources for Breast-Ovarian Cancer, Familial, 2

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