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Titolo:
The frequency of germ-line mutations in the breast cancer predisposition genes BRCA1 and BRCA2 in familial prostate cancer
Autore:
Gayther, SA; de Foy, EAF; Harrington, P; Pharoah, P; Dunsmuir, WD; Edwards, SM; Gillett, C; Ardern-Jones, A; Dearnaley, DP; Easton, DF; Ford, D; Shearer, RJ; Kirby, RS; Dowe, AL; Kelly, J; Stratton, MR; Ponder, BAJ; Barnes, D; Eeles, RA;
Indirizzi:
Inst Canc Res, Canc Res Campaign Sect Epidemiol, Sutton SM2 5NG, Surrey, England Inst Canc Res Sutton Surrey England SM2 5NG tton SM2 5NG, Surrey, England Univ Cambridge, Addenbrookes Hosp, Canc Res Campaign Human Canc Genet Res Grp, Cambridge CB2 2QQ, England Univ Cambridge Cambridge England CB2 2QQ Grp, Cambridge CB2 2QQ, England St George Hosp, Dept Urol, London SW17 0QT, England St George Hosp London England SW17 0QT pt Urol, London SW17 0QT, England Guys Hosp, Hedley Atkins Imperial Canc Res Fund, Breast Pathol Lab, LondonSE1 9RT, England Guys Hosp London England SE1 9RT east Pathol Lab, LondonSE1 9RT, England Royal Marsden Natl Hlth Serv Trust, Sutton SM2 5PT, Surrey, England Royal Marsden Natl Hlth Serv Trust Sutton Surrey England SM2 5PT England Strangeways Res Lab, Canc Res Campaign Genet Epidemiol Unit, Cambridge CB18RN, England Strangeways Res Lab Cambridge England CB1 8RN Cambridge CB18RN, England
Titolo Testata:
CANCER RESEARCH
fascicolo: 16, volume: 60, anno: 2000,
pagine: 4513 - 4518
SICI:
0008-5472(20000815)60:16<4513:TFOGMI>2.0.ZU;2-6
Fonte:
ISI
Lingua:
ENG
Soggetto:
SUSCEPTIBILITY LOCUS; OVARIAN-CANCER; DOMINANT INHERITANCE; JEWISH MEN; CHROMOSOME; RISK; RELATIVES; CARRIERS; SWEDEN; WOMEN;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
42
Recensione:
Indirizzi per estratti:
Indirizzo: Eeles, RA Inst Canc Res, Canc Res Campaign Sect Epidemiol, 15 Cotswold rd,Sutton SM2 5NG, Surrey, England Inst Canc Res 15 Cotswold rd Sutton SurreyEngland SM2 5NG gland
Citazione:
S.A. Gayther et al., "The frequency of germ-line mutations in the breast cancer predisposition genes BRCA1 and BRCA2 in familial prostate cancer", CANCER RES, 60(16), 2000, pp. 4513-4518

Abstract

Predisposition to prostate cancer has a genetic component, and there are reports of familial clustering of breast and prostate cancer. Two highly penetrant genes that predispose individuals to breast cancer (BRCA1 and BRCA2)are known to confer an increased risk of prostate cancer of about 3-fold and 7-fold, respectively, in breast cancer families. Blood DNA from affectedindividuals in 38 prostate cancer clusters was analyzed for germline mutations in BRCA1 and BRCA2 to assess the contribution of each of these genes to familial prostate cancer. Seventeen DNA samples were each from an affected individual in families with three or more cases of prostate cancer at anyage; 20 samples were from one of affected sibling pairs where one was lessthan or equal to 67 years at diagnosis, No germ-line mutations were found in BRCA1. Two germ-line mutations in BRCA2 were found, and both were seen in individuals whose age at diagnosis was very young (less than or equal to 56 years) and who were members of an affected sibling pair. One is a 4-bp deletion at base 6710 (exon 11) in a man who had prostate cancer at 54 Sears, and the other is a 2-bp deletion at base 5531 (ex:on 11) in a man who hadprostate cancer at 56 years, In both cases, the wild-type allele was lost in the patient's prostate tumor at the BRCA2 locus. However, intriguingly, in neither case did the affected brother also carry the mutation. Germ-linemutations in BRCA2 may therefore account for about 5% of prostate cancer in familial clusters.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 22/09/20 alle ore 17:26:20