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Titolo:
RAPID DETECTION OF REGIONALLY CLUSTERED GERM-LINE BRCA1 MUTATIONS BY MULTIPLEX HETERODUPLEX ANALYSIS
Autore:
GAYTHER SA; HARRINGTON P; RUSSELL P; KHARKEVICH G; GARKAVTSEVA RF; PONDER BAJ; BISHOP DT; CARMICHAEL J; COLLINS WP; COX D; EASTON D; FRASER GR; LOWE DG; MACKAY J; SHEPHERD JH; STEEL CM;
Indirizzi:
ADDENBROOKES HOSP,CRC,HUMAN CANC GENET RES GRP,HILLS RD,BOX 238 CAMBRIDGE CB2 2QQ ENGLAND RUSSIAN ACAD MED SCI,CANC RES CTR MOSCOW 109801 RUSSIA
Titolo Testata:
American journal of human genetics
fascicolo: 3, volume: 58, anno: 1996,
pagine: 451 - 456
SICI:
0002-9297(1996)58:3<451:RDORCG>2.0.ZU;2-Y
Fonte:
ISI
Lingua:
ENG
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
20
Recensione:
Indirizzi per estratti:
Citazione:
S.A. Gayther et al., "RAPID DETECTION OF REGIONALLY CLUSTERED GERM-LINE BRCA1 MUTATIONS BY MULTIPLEX HETERODUPLEX ANALYSIS", American journal of human genetics, 58(3), 1996, pp. 451-456

Abstract

Germ-line mutations of the BRCA1 gene are responsible for a substantial proportion of families with multiple cases of early-onset breast and/or ovarian cancer. Since the isolation of BRCA1 last year, >65 distinct mutations scattered throughout the coding region have been detected, making analysis of the gene time consuming and technically challenging. We have developed a multiplex heteroduplex analysis that is designed to analyze one-quarter of the coding sequence in a single-step screening procedure and that will detect similar to 50% of all BRCA1 mutations so far reported in breast/ovarian cancer families. We have used this technique to analyze BRCA1 in 162 families with a history of breast and/or ovarian cancer and identified 12 distinct mutations in 35 families.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 12/07/20 alle ore 11:48:27