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Occurrence of both breast and ovarian cancer in a woman is a marker for the BRCA gene mutations: a population-based study from western Sweden.

Journal article
Authors Zakaria Einbeigi
Annika Bergman
Jeanne Meis-Kindblom
Anna Flodin
Cecilia Bjursell
Tommy Martinsson
Lars-Gunnar Kindblom
Jan Wahlström
Arne Wallgren
Margareta Nordling
Per Karlsson
Published in Familial cancer
Volume 6
Issue 1
Pages 35-41
ISSN 1389-9600
Publication year 2007
Published at Institute of Biomedicine, Department of Medical and Clinical Genetics
Institute of Biomedicine, Department of Pathology
Institute of Clinical Sciences
Pages 35-41
Language en
Links dx.doi.org/10.1007/s10689-006-9101-...
Keywords Age of Onset, Breast Neoplasms, epidemiology, genetics, Cohort Studies, DNA Mutational Analysis, Female, Genes, BRCA1, Genes, BRCA2, Genetic Screening, Genetics, Population, Humans, Mutation, Neoplasms, Second Primary, epidemiology, genetics, Neoplastic Syndromes, Hereditary, Ovarian Neoplasms, epidemiology, genetics, Retrospective Studies, Risk Assessment, statistics & numerical data, Sweden, epidemiology, Tumor Markers, Biological, genetics
Subject categories Medical and Health Sciences, Cancer and Oncology

Abstract

AIM: This study aimed to analyze whether the occurrence of both breast and ovarian cancer in a woman serves as a marker for BRCA gene mutations. MATERIAL AND METHODS: This population-based study included 256 women in western Sweden who developed both invasive breast and ovarian tumors between 1958 and 1999. Archival paraffin tissue blocks of their tumors were retrieved for DNA-extraction to analyze the founder mutation, BRCA1 c.3171_3175dup (c.3171ins5), which is most common in this geographic area and four other common Scandinavian BRCA1 gene mutations and one BRCA2 mutation. Together, account these mutations for approximately 75% of the BRCA1/2 gene mutations in the clinical unit. RESULTS: Ninteen percent (95% confidence interval (CI) 14-24%) of the women carried one of the analyzed BRCA1 gene mutations but none of the women were positive for the analyzed BRCA2 mutation. One-third of the women with both tumors before age 60 were mutation carriers. BRCA1 c.3171_3175dup (c.3171ins5) constituted 84% of all identified mutations. Although the majority of breast cancers were invasive ductal and atypical medullary types, a variety of other breast malignancies were seen among mutation carriers. Serous ovarian carcinomas predominated among ovarian tumors. A variety of other ovarian tumors, including three granulosa-theca cell tumors, were also observed among mutation carriers. CONCLUSIONS: The occurrence of both breast and ovarian cancer in a woman is associated with a high likelihood of a constitutional BRCA1 mutation. These women and their families might therefore be considered for mutation screening after appropriate genetic counselling.

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