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Titolo:
GENETIC-HETEROGENEITY AND PENETRANCE ANALYSIS OF THE BRCA1 AND BRCA2 GENES IN BREAST-CANCER FAMILIES
Autore:
FORD D; EASTON DF; STRATTON M; NAROD S; GOLDGAR D; DEVILEE P; BISHOP DT; WEBER B; LENOIR G; CHANGCLAUDE J; SOBOL H; TEARE MD; STRUEWING J; ARASON A; SCHERNECK S; PETO J; REBBECK TR; TONIN P; NEUHAUSEN S; BARKARDOTTIR R; EYFJORD J; LYNCH H; PONDER BAJ; GAYTHER SA; BIRCH JM; LINDBLOM A; STOPPALYONNET D; BIGNON Y; BORG A; HAMANN U; HAITES N; SCOTT RJ; MAUGARD CM; VASEN H;
Indirizzi:
INST PUBL HLTH,CRC,GENET EPIDEMIOL UNIT,STRANGEWAYS RES LABS,WORTS CAUSEWAY CAMBRIDGE CB1 4RN ENGLAND INST PUBL HLTH,CRC,GENET EPIDEMIOL UNIT,STRANGEWAYS RES LABS CAMBRIDGE CB1 4RN ENGLAND CANC RES INST,EPIDEMIOL SECT SUTTON SURREY ENGLAND CANC RES INST,SECT MOL CARCINOGENESIS SUTTON SURREY ENGLAND UNIV CAMBRIDGE,CRC,HUMAN CANC GENET RES GRP CAMBRIDGE CB2 1TN ENGLAND CTR RES WOMENS HLTH TORONTO ON CANADA INT AGCY RES CANC F-69372 LYON FRANCE LEIDEN UNIV,DEPT PATHOL NL-2300 RA LEIDEN NETHERLANDS LEIDEN UNIV,DEPT HUMAN GENET NL-2300 RA LEIDEN NETHERLANDS IMPERIAL CANC RES FUND,GENET EPIDEMIOL LAB LEEDS W YORKSHIRE ENGLAND UNIV PENN,DEPT MED PHILADELPHIA PA 19104 UNIV PENN,DEPT GENET PHILADELPHIA PA 19104 DEUTSCH KREBSFORSCHUNGSZENTRUM D-6900 HEIDELBERG GERMANY INST J PAOLI I CALMETTES,DEPT ONCOL GENET,INSERM CRI9703 F-13009 MARSEILLE FRANCE NCI,GENET EPIDEMIOL BRANCH BETHESDA MD 20892 UNIV HOSP,CELL BIOL LAB REYKJAVIK ICELAND ICELAND CANC SOC REYKJAVIK ICELAND MAX DELBRUCK CTR MOL MED BERLIN GERMANY MCGILL UNIV,DEPT MED MONTREAL PQ CANADA MCGILL UNIV,DEPT HUMAN GENET MONTREAL PQ CANADA UNIV UTAH,GENET EPIDEMIOL GRP SALT LAKE CITY UT 84112 CREIGHTON UNIV,SCH MED,DEPT PREVENTAT MED & PUBL HLTH OMAHA NE 00000 CHRISTIE HOSP & HOLT RADIUM INST,CRC,PAEDIAT & FAMILIAL CANC RES GRP MANCHESTER M20 9BX LANCS ENGLAND KAROLINSKA INST,DEPT CLIN GENET STOCKHOLM SWEDEN INST CURIE,UNITE GENET ONCOL PARIS FRANCE CTR JEAN PERRIN,MOL ONCOL LAB CLERMONT FERRA FRANCE UNIV HOSP,DEPT ONCOL LUND SWEDEN UNIV ABERDEEN ABERDEEN AB9 1FX SCOTLAND KANTONSSPITAL CH-4031 BASEL SWITZERLAND CTR RENE GAUDUCHEAU F-44035 NANTES FRANCE FDN DETECT HEREDITARY TUMORS LEIDEN NETHERLANDS
Titolo Testata:
American journal of human genetics
fascicolo: 3, volume: 62, anno: 1998,
pagine: 676 - 689
SICI:
0002-9297(1998)62:3<676:GAPAOT>2.0.ZU;2-0
Fonte:
ISI
Lingua:
ENG
Soggetto:
OVARIAN-CANCER; SUSCEPTIBILITY GENE; LINKAGE ANALYSIS; RAPID DETECTION; MUTATIONS; CHROMOSOME-17Q21; CARRIERS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
39
Recensione:
Indirizzi per estratti:
Citazione:
D. Ford et al., "GENETIC-HETEROGENEITY AND PENETRANCE ANALYSIS OF THE BRCA1 AND BRCA2 GENES IN BREAST-CANCER FAMILIES", American journal of human genetics, 62(3), 1998, pp. 676-689

Abstract

The contribution of BRCA1 and BRCA2 to inherited breast cancer was assessed by linkage and mutation analysis in 237 families, each with at least four cases of breast cancer, collected by the Breast Cancer Linkage Consortium. Families were included without regard to the occurrence of ovarian or other cancers, Overall, disease was linked to BRCA1 inan estimated 52% of families, to BRCA2 in 32% of families, and to neither gene in 16% (95% confidence interval [CI] 6%-28%), suggesting other predisposition genes, The majority (81%) of the breast-ovarian cancer families were due to BRCA1, with most others (14%) due To BRCA2. Conversely, the majority of families with male and female breast cancer were due to BRCA2 (76%). The largest proportion (67%) of families due to other genes tvas found in families with four or five cases of female breast cancer only, These estimates were not substantially affected either by changing the assumed penetrance model for BRCA1 or by including or excluding BRCA1 mutation data. Among those families with disease due to BRCA1 that were tested by one of the standard screening methods, mutations were detected in the coding sequence or splice sites in an estimated 63% (95% CI 51%-77%). The estimated sensitivity was identical for direct sequencing and other techniques. The penetrance of BRCA2 was estimated bg maximizing the LOD score in BRCA2-mutation families, over all possible penetrance functions, The estimated cumulative risk of breast cancer reached 28% (95% CI 9%-44%) by age 50 years and 84% (95% CI 43%-95%) by age 70 pears. The corresponding ovarian cancer risks were 0.4% (95% CI 0%-1%) by age 50 years and 27% (95% CI 0%-47%) by age 70 years, The lifetime risk of breast cancer appears similar tothe risk in BRCA1 carriers, but there was some suggestion of a lower risk in BRCA2 carriers <50 years of age.

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Documento generato il 29/10/20 alle ore 20:54:11