IngentaConnect Founder BRCA1 and BRCA2 mutations in French Canadian ovarian canc...

Authors: Tonin, Patricia N¹; Mes-Masson, Anne-Marie²; Narod, Steven A³; Ghadirian, Parviz⁴; Provencher, Diane⁵

Source: Clinical Genetics, Volume 55, Number 5, May 1999 , pp. 318-324(7)

Abstract:

The breast cancer susceptibility genes, BRCA1 and BRCA2, differ in their contribution to ovarian cancer. Recently, founder mutations in each of these genes were identified in Canadian breast cancer and breast-ovarian cancer families of French ancestry. We have examined the prevalence of the founder mutations in a series of 113 French Canadian women with ovarian cancer unselected for family history. Germline mutations were found in eight of 99 invasive carcinomas and in none of the 14 tumors of borderline malignancy. Five cases carried the BRCA1 C4446T mutation and two cases carried the BRCA2 8765delAG mutation which are the most common mutations that have been described in French Canadian breast cancer and breast-ovarian cancer families. All of these cases reported a family history of at least one first-degree relative with breast cancer, diagnosed below age 60 years, or with ovarian cancer. The identification of founder BRCA1 and BRCA2 mutations in ovarian cancer cases unselected for family history can facilitate carrier detection when the expected yield of a comprehensive screen may be low.

Keywords: BRCA1; BRCA2; breast cancer; ovarian cancer

Document Type: Research article

DOI: 10.1034/j.1399-0004.1999.550504.x

Affiliations: 1: Departments of Medicine and Human Genetics, McGill University and Montreal General Hospital Research Institute, Montreal, 2: Institut du cancer de Montréal/CHUM Campus Notre Dame and Département de médecine, Université de Montréal, Montréal, 3: Centre for Research in Women's Health, Women's College Hospital, and University of Toronto, Toronto, 4: Unité de recherche en épidémiologie, CHUM Campus Hôtel Dieu and Départment de nutrition, Faculté de médicine, Université de Montréal, Montréal, 5: Institut du cancer de Montréal/CHUM Campus Notre Dame and Département d'Obstétrique-Gynécologie, Université de Montréal, Montréal, Canada

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Founder BRCA1 and BRCA2 mutations in French Canadian ovarian cancer cases unselected for family history