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Titolo:
HAPLOTYPE AND PHENOTYPE ANALYSIS OF 6 RECURRENT BRCA1 MUTATIONS IN 61FAMILIES - RESULTS OF AN INTERNATIONAL STUDY
Autore:
NEUHAUSEN SL; MAZOYER S; FRIEDMAN L; STRATTON M; OFFIT K; CALIGO A; TOMLINSON G; CANNONALBRIGHT L; BISHOP T; KELSELL D; SOLOMON E; WEBER B; COUCH F; STRUEWING J; TONIN P; DUROCHER F; NAROD S; SKOLNICK MH; LENOIR G; SEROVA O; PONDER B; STOPPALYONNET D; EASTON D; KING MC; GOLDGAR DE;
Indirizzi:
UNIV UTAH,SCH MED,DEPT MED INFORMAT,GENET EPIDEMIOL GRP,391 CHIPETA WAY,SUITE D2 SALT LAKE CITY UT 84108 UNIV UTAH,SCH MED,DEPT MED INFORMAT,GENET EPIDEMIOL GRP SALT LAKE CITY UT 84108 UNIV UTAH,SCH MED,DEPT INTERNAL MED SALT LAKE CITY UT 00000 MYRIAD GENET SALT LAKE CITY UT 00000 UNIV CAMBRIDGE,DEPT PATHOL,CRC,HUMAN CANC GENET RES GRP CAMBRIDGE ENGLAND UNIV CALIF BERKELEY,DEPT MOLEC & CELL BIOL BERKELEY CA 94720 UNIV CALIF BERKELEY,SCH PUBL HLTH BERKELEY CA 94720 INST CANC RES,SECT MOLEC CARCINOGENESIS SUTTON SURREY ENGLAND INST CANC RES,EPIDEMIOL SECT SUTTON SURREY ENGLAND MEM SLOAN KETTERING CANC CTR,DEPT HUMAN GENET NEW YORK NY 10021 INST ANAT PATOL PISA ITALY SW TEXAS STATE UNIV,DEPT PEDIAT DALLAS TX 00000 IMPERIAL CANC RES FUND,GENET EPIDEMIOL LAB LEEDS W YORKSHIRE ENGLAND IMPERIAL CANC RES FUND,CLARE HALL LABS LONDON ENGLAND IMPERIAL CANC RES FUND,LINCOLNS INN FIELDS LONDON ENGLAND UNIV PENN,DEPT HEMATOL ONCOL PHILADELPHIA PA 19104 NATL CANC INST,GENET EPIDEMIOL BRANCH BETHESDA MD 00000 NIH BETHESDA MD 00000 MCGILL UNIV,DEPT MED GENET MONTREAL PQ CANADA CHU LAVAL,RES CTR,DEPT MOLEC ENDOCRINOL QUEBEC CITY PQ CANADA UNIV LAVAL QUEBEC CITY PQ CANADA INT AGCY RES CANC F-69372 LYON FRANCE INST CURIE,UNITE GENET ONCOL PARIS FRANCE
Titolo Testata:
American journal of human genetics
fascicolo: 2, volume: 58, anno: 1996,
pagine: 271 - 280
SICI:
0002-9297(1996)58:2<271:HAPAO6>2.0.ZU;2-7
Fonte:
ISI
Lingua:
ENG
Soggetto:
CANCER;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
22
Recensione:
Indirizzi per estratti:
Citazione:
S.L. Neuhausen et al., "HAPLOTYPE AND PHENOTYPE ANALYSIS OF 6 RECURRENT BRCA1 MUTATIONS IN 61FAMILIES - RESULTS OF AN INTERNATIONAL STUDY", American journal of human genetics, 58(2), 1996, pp. 271-280

Abstract

Several BRCA1 mutations have now been found to occur in geographically diverse breast and ovarian cancer families. To investigate mutation origin and mutation-specific phenotypes due to BRCA1, we constructed ahaplotype of nine polymorphic markers within or immediately flanking the BRCA1 locus in a set of 61 breast/ovarian cancer families selectedfor having one of six recurrent BRCA1 mutations. Tests of both mutations and family-specific differences in age at diagnosis were not significant. A comparison of the six mutations in the relative proportions of cases of breast and ovarian cancer was suggestive of an effect (P =.069), with 57% of women presumed affected because of the 1294 del 40BRCA1 mutation having ovarian cancer, compared with 14% of affected women with the splice-site mutation in intron 5 of BRCA1. For the BRCA1mutations studied here, the individual mutations are estimated to have arisen 9-170 generations ago. In general, a high degree of haplotypeconservation across the region was observed, with haplotype differences most often due to mutations in the short-tandem-repeat markers, although some likely instances of recombination also were observed. For several of the instances, there was evidence for multiple, independent,BRCA1 mutational events.

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Documento generato il 07/08/20 alle ore 05:13:20