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Titolo:
HAPLOTYPE AND PHENOTYPE ANALYSIS OF 9 RECURRENT BRCA2 MUTATIONS IN 111 FAMILIES - RESULTS OF AN INTERNATIONAL STUDY
Autore:
NEUHAUSEN SL; GODWIN AK; GERSHONIBARUCH R; SCHUBERT E; GARBER J; STOPPALYONNET D; OLAH E; CSOKAY B; SEROVA O; LALLOO F; OSORIO A; STRATTON M; OFFIT K; BOYD J; CALIGO MA; SCOTT RJ; SCHOFIELD A; TEUGELS E; SCHWAB M; CANNONALBRIGHT L; BISHOP T; EASTON D; BENITEZ J; KING MC; PONDER BAJ; WEBER B; DEVILEE P; BORG A; NAROD SA; GOLDGAR D;
Indirizzi:
UNIV UTAH,SCH MED,DEPT MED INFORMAT,DIV GENET EPIDEMIOL,GENET EPIDEMIOL GRP,391 CHIPETA WAY SALT LAKE CITY UT 84108 UNIV PENN,FOX CHASE CANC CTR,DEPT MED ONCOL PHILADELPHIA PA 19104 UNIV PENN,DEPT HEMATOL ONCOL PHILADELPHIA PA 19104 RAMBAM MED CTR,DEPT HUMAN GENET HAIFA ISRAEL UNIV WASHINGTON,DEPT MED SEATTLE WA 00000 UNIV WASHINGTON,DEPT GENET SEATTLE WA 00000 INST CURIE,UNITE GENET ONCOL PARIS FRANCE DANA FARBER CANC INST BOSTON MA 02115 NATL INST ONCOL BUDAPEST HUNGARY INT AGCY RES CANC F-69372 LYON FRANCE UNIV MANCHESTER,DEPT MED GENET MANCHESTER LANCS ENGLAND ST MARYS HOSP,REG GENET SERV MANCHESTER M13 0JH LANCS ENGLAND FDN JIMENEZ DIAZ,DEPT GENET E-28040 MADRID SPAIN INST CANC RES,SECT MOL CARCINOGENESIS SUTTON SURREY ENGLAND MEM SLOAN KETTERING CANC CTR,DEPT HUMAN GENET NEW YORK NY 10021 MEM SLOAN KETTERING CANC CTR,DEPT SURG NEW YORK NY 10021 UNIV PISA,DEPT ONCOL PISA ITALY KANTONSSPITAL BASEL,DEPT HUMAN GENET BASEL SWITZERLAND UNIV ABERDEEN,SCH MED,DEPT MED GENET ABERDEEN AB9 2ZD SCOTLAND FREE UNIV BRUSSELS,CTR ONCOL BRUSSELS BELGIUM GERMAN CANC RES CTR D-6900 HEIDELBERG GERMANY IMPERIAL CANC RES FUND,GENET EPIDEMIOL LAB LEEDS W YORKSHIRE ENGLAND INST PUBL HLTH,GENET EPIDEMIOL UNIT,CRC CAMBRIDGE ENGLAND UNIV CAMBRIDGE,DEPT ONCOL,HUMAN CANC GENET GRP,CRC CAMBRIDGE ENGLAND LEIDEN UNIV,DEPT HUMAN GENET NL-2300 RA LEIDEN NETHERLANDS UNIV LUND HOSP,DEPT ONCOL S-22185 LUND SWEDEN UNIV TORONTO,CTR RES WOMENS HLTH TORONTO ON CANADA
Titolo Testata:
American journal of human genetics
fascicolo: 6, volume: 62, anno: 1998,
pagine: 1381 - 1388
SICI:
0002-9297(1998)62:6<1381:HAPAO9>2.0.ZU;2-E
Fonte:
ISI
Lingua:
ENG
Soggetto:
ASHKENAZI-JEWISH INDIVIDUALS; BREAST-CANCER; CARRIER FREQUENCY; GENE; WOMEN; MAP;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
20
Recensione:
Indirizzi per estratti:
Citazione:
S.L. Neuhausen et al., "HAPLOTYPE AND PHENOTYPE ANALYSIS OF 9 RECURRENT BRCA2 MUTATIONS IN 111 FAMILIES - RESULTS OF AN INTERNATIONAL STUDY", American journal of human genetics, 62(6), 1998, pp. 1381-1388

Abstract

Several BRCA2 mutations are found to occur in geographically diverse breast and ovarian cancer families. To investigate both mutation origin and mutation-specific phenotypes due to BRCA2, we constructed a haplotype of 10 polymorphic short tandem-repeat (STR) markers flanking theBRCA2 locus, in a set of 111 breast or breast/ovarian cancer familiesselected for having one of nine recurrent BRCA2 mutations. Six of theindividual mutations are estimated to have arisen 400-2,000 years ago. In particular, the 6174delT mutation, found in similar to 1% of individuals of Ashkenazi Jewish ancestry, was estimated to have arisen 29 generations ago (1-LOD support interval 22-38). This is substantially more recent than the estimated age of the BRCA1 185delAG mutation (46 generations), derived from our analogous study of BRCA1 mutations. In general, there was no evidence of multiple origins of identical BRCA2 mutations. Our study data were consistent with the previous report of a higher incidence of ovarian cancer in families with mutations in a 3.3-kb region of exon 11 (the ovarian cancer cluster region [OCCR]) (P = .10); but that higher incidence was not statistically significant. There was significant evidence that age at diagnosis of breast cancer varied by mutation (P < .001), although only 8% of the variance in age at diagnosis could be explained by the specific mutation, and there was no evidence of family-specific effects. When the age at diagnosis ofthe breast cancer cases was examined by OCCR, cases associated with mutations in the OCCR had a significantly older mean age at diagnosis than was seen in those outside this region (48 years vs. 42 years; P = .0005).

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Documento generato il 04/07/20 alle ore 21:24:45