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Systematic sequencing of the BRCA-1 coding region for germ-line mutation detection in 70 French high-risk families

Laplace-Marieze, V; Presneau, N; Sylvain, V; Kwiatkowski, F; Lortholary, A; Hardouin, A; Bignon, YJ; (1999) Systematic sequencing of the BRCA-1 coding region for germ-line mutation detection in 70 French high-risk families. INT J ONCOL , 14 (5) 971 - 977.

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Abstract

Seventy French high-risk families were screened for germ-line BRCA-1 mutations. The BRCA-1 coding region and the exon-intron boundaries were sequenced, except when pre-screening by PTT revealed a truncated protein in exon 11. Germ-line BRCA-1 mutations were detected in 24% of families. The number of breast and ovarian cancers per family, a relative young age at ovarian cancer diagnosis, and the occurrence of breast and ovarian cancer in the same patient significantly predicted the presence of a BRCA-1 mutation. The low BRCA-1 mutation frequency suggested that some alterations were not detected and some families were probably BRCA-2 or BRCAx carriers.

Type: Article
Title: Systematic sequencing of the BRCA-1 coding region for germ-line mutation detection in 70 French high-risk families
Keywords: BRCA-1, mutation screening, breast/ovarian cancer family, direct sequencing, protein truncation test, OVARIAN-CANCER FAMILIES, BREAST-CANCER, COMMON BRCA1, SUSCEPTIBILITY, GENE, IDENTIFICATION, POPULATION, WOMEN, FREQUENCY, VARIANTS
UCL classification: UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute > Research Department of Pathology
URI: http://discovery.ucl.ac.uk/id/eprint/62026
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