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Titolo:
Variation in cancer risks, by mutation position, in BRCA2 mutation carriers
Autore:
Thompson, D; Easton, D;
Indirizzi:
CRC, Genet Epidemiol Unit, Strangeways Res Lab, Cambridge, England CRC Cambridge England iol Unit, Strangeways Res Lab, Cambridge, England Univ Aberdeen, Aberdeen AB9 1FX, Scotland Univ Aberdeen Aberdeen Scotland AB9 1FX deen, Aberdeen AB9 1FX, Scotland Kantonsspital, CH-4031 Basel, Switzerland Kantonsspital Basel Switzerland CH-4031 ital, CH-4031 Basel, Switzerland Univ Washington, Dept Med, Seattle, WA USA Univ Washington Seattle WA USA niv Washington, Dept Med, Seattle, WA USA Univ Washington, Dept Genet, Seattle, WA 98195 USA Univ Washington Seattle WA USA 98195 n, Dept Genet, Seattle, WA 98195 USA Ctr Jean Perrin, Clermont Ferrand, France Ctr Jean Perrin Clermont Ferrand France errin, Clermont Ferrand, France Deutsch Krebsforschungszentrum, D-6900 Heidelberg, Germany Deutsch Krebsforschungszentrum Heidelberg Germany D-6900 elberg, Germany Univ Wurzburg, Wurzburg, Germany Univ Wurzburg Wurzburg GermanyUniv Wurzburg, Wurzburg, Germany Ctr Nacl Invest Oncol, Madrid, Spain Ctr Nacl Invest Oncol Madrid SpainCtr Nacl Invest Oncol, Madrid, Spain Univ Helsinki, Cent Hosp, Dept Oncol, Helsinki, Finland Univ Helsinki Helsinki Finland Cent Hosp, Dept Oncol, Helsinki, Finland Univ Helsinki, Cent Hosp, Dept Obstet & Gynaecol, Helsinki, Finland Univ Helsinki Helsinki Finland ept Obstet & Gynaecol, Helsinki, Finland Creighton Univ, Omaha, NE 68178 USA Creighton Univ Omaha NE USA 68178Creighton Univ, Omaha, NE 68178 USA Int Agcy Res Canc, F-69372 Lyon, France Int Agcy Res Canc Lyon France F-69372 gcy Res Canc, F-69372 Lyon, France Inst Curie, Paris, France Inst Curie Paris FranceInst Curie, Paris, France Univ Hosp Iceland, Reykjavik, Iceland Univ Hosp Iceland Reykjavik Iceland iv Hosp Iceland, Reykjavik, Iceland Icelandic Canc Soc, Reykjavik, Iceland Icelandic Canc Soc Reykjavik Iceland andic Canc Soc, Reykjavik, Iceland Imperial Canc Res Fund, Leeds, W Yorkshire, England Imperial Canc Res Fund Leeds W Yorkshire England s, W Yorkshire, England Univ Lund, S-22100 Lund, Sweden Univ Lund Lund Sweden S-22100Univ Lund, S-22100 Lund, Sweden McGill Univ, Montreal, PQ, Canada McGill Univ Montreal PQ CanadaMcGill Univ, Montreal, PQ, Canada Univ Montreal, Montreal, PQ H3C 3J7, Canada Univ Montreal Montreal PQ Canada H3C 3J7 al, Montreal, PQ H3C 3J7, Canada Univ Penn, Philadelphia, PA 19104 USA Univ Penn Philadelphia PA USA 19104Univ Penn, Philadelphia, PA 19104 USA Leiden Univ, NL-2300 RA Leiden, Netherlands Leiden Univ Leiden Netherlands NL-2300 RA NL-2300 RA Leiden, Netherlands Fdn Detect Hereditary Tumours, Leiden, Netherlands Fdn Detect Hereditary Tumours Leiden Netherlands s, Leiden, Netherlands Erasmus Med Ctr, Rotterdam, Netherlands Erasmus Med Ctr Rotterdam Netherlands s Med Ctr, Rotterdam, Netherlands Dr Daniel Den Hoed Canc Ctr, NL-3008 AE Rotterdam, Netherlands Dr Daniel Den Hoed Canc Ctr Rotterdam Netherlands NL-3008 AE Netherlands Univ Toronto, Toronto, ON, Canada Univ Toronto Toronto ON CanadaUniv Toronto, Toronto, ON, Canada Univ Utah, Salt Lake City, UT 84112 USA Univ Utah Salt Lake City UT USA 84112 Utah, Salt Lake City, UT 84112 USA
Titolo Testata:
AMERICAN JOURNAL OF HUMAN GENETICS
fascicolo: 2, volume: 68, anno: 2001,
pagine: 410 - 419
SICI:
0002-9297(200102)68:2<410:VICRBM>2.0.ZU;2-S
Fonte:
ISI
Lingua:
ENG
Soggetto:
SUSCEPTIBILITY GENE BRCA2; BREAST-CANCER; CHROMOSOME 13Q12-13; GERMLINE MUTATIONS; FAMILY HISTORY; FREQUENCY; LOCALIZATION; POPULATION; PROTEIN; RAD51;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
39
Recensione:
Indirizzi per estratti:
Indirizzo: Easton, D CRC, Genet Epidemiol Unit, Strangeways Res Lab, Worts Causeway, Cambridge,England CRC Worts Causeway Cambridge England useway, Cambridge,England
Citazione:
D. Thompson e D. Easton, "Variation in cancer risks, by mutation position, in BRCA2 mutation carriers", AM J HU GEN, 68(2), 2001, pp. 410-419

Abstract

Cancer occurrence in 164 families with breast/ovarian cancer and germline BRCA2 mutations was studied to evaluate the evidence for genotype-phenotypecorrelations. Mutations in a central portion of the gene (the "ovarian cancer cluster region" [OCCR]) were associated with a significantly higher ratio of cases of ovarian: breast cancer in female carriers than were mutations 50 or 30 of this region (P < .0001), extending previous observations. Theoptimal definition of the OCCR, as judged on the basis of deviance statistics, was bounded by nucleotides 3059-4075 and 6503-6629. The relative and absolute risks of breast and ovarian cancer associated with OCCR and non-OCCR mutations were estimated by a conditional likelihood approach, conditioning on the set of mutations observed in the families. OCCR mutations were associated both with a highly significantly lower risk of breast cancer (relative risk [RR] 0.63; 95% confidence interval (95% CI) 0.46-0.84; P = .0012)and with a significantly higher risk of ovarian cancer (RR = 1.88; 95% CI = 1.08-3.33; P = .026). No other differences in breast or ovarian cancer risk, by mutation position, were apparent. There was some evidence for a lower risk of prostate cancer in carriers of an OCCR mutation (RR = 0.52; 95% CI = 0.24-1.00; P = .05), but there was no evidence of a difference in breast cancer risk in males. By age 80 years, the cumulative risk of breast cancer in male carriers of a BRCA2 mutation was estimated as 6.92% (95% CI = 1.20%-38.57%). Possible mechanisms for the variation in cancer risk are suggested by the coincidence of the OCCR with the RAD51-binding domain.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 14/07/20 alle ore 10:12:15