Entry

H02531                      Disease

Name

Familial breast-ovarian cancer

Subgroup

Hereditary breast ovarian cancer syndrome (HBOC)

Description

Hereditary susceptibility to breast cancer is considered to be polygenic. The most important breast cancer susceptibility genes are BRCA1 and BRCA2. Mutations in these genes confer a high risk of early-onset breast cancer and also an increased risk of ovarian cancer. Recently, mutations in RAD51C and RAD51D were identified in families with breast and ovarian cancer.

Category

Cancer

Brite

Human diseases [BR:br08402]
Cancers
  Cancers of the breast and female genital organs
   H02531  Familial breast-ovarian cancer
Human diseases in ICD-11 classification [BR:br08403]
02 Neoplasms
  Malignant neoplasms, except primary neoplasms of lymphoid, haematopoietic, central nervous system or related tissues
   Malignant neoplasms, stated or presumed to be primary, of specified sites, except of lymphoid, haematopoietic, central nervous system or related tissues
    Malignant neoplasms of breast
     2C65  Hereditary breast and ovarian cancer syndrome
      H02531  Familial breast-ovarian cancer

Related
pathway

hsa03440

Homologous recombination

hsa03460

Fanconi anemia pathway

Network

nt06506 Double-strand break repair
nt06508 Interstrand crosslink repair

Gene

(BROVCA1) BRCA1 [HSA:672] [KO:K10605]
(BROVCA2) BRCA2 [HSA:675] [KO:K08775]
(BROVCA3) RAD51C [HSA:5889] [KO:K10870]
(BROVCA4) RAD51D [HSA:5892] [KO:K10871]

Other DBs

ICD-11:

2C65

MeSH:

D061325

OMIM:

604370 612555 613399 614291

Reference

PMID:11257103

Authors

Welcsh PL, King MC

Title

BRCA1 and BRCA2 and the genetics of breast and ovarian cancer.

Journal

Hum Mol Genet 10:705-13 (2001)
DOI:10.1093/hmg/10.7.705

Reference

PMID:21616938

Authors

Pelttari LM, Heikkinen T, Thompson D, Kallioniemi A, Schleutker J, Holli K, Blomqvist C, Aittomaki K, Butzow R, Nevanlinna H

Title

RAD51C is a susceptibility gene for ovarian cancer.

Journal

Hum Mol Genet 20:3278-88 (2011)
DOI:10.1093/hmg/ddr229

Reference

PMID:21822267

Authors

Loveday C, Turnbull C, Ramsay E, Hughes D, Ruark E, Frankum JR, Bowden G, Kalmyrzaev B, Warren-Perry M, Snape K, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Brice G, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers MT, Shanley S, Walker L, Eccles D, Evans DG, Renwick A, Seal S, Lord CJ, Ashworth A, Reis-Filho JS, Antoniou AC, Rahman N

Title

Germline mutations in RAD51D confer susceptibility to ovarian cancer.

Journal

Nat Genet 43:879-882 (2011)
DOI:10.1038/ng.893

DISEASE: Familial breast-ovarian cancer