Investigations of hereditary background of breast and ovarian cancer in Polish families of Pomeranian - Kujawski region.

O Haus

Dept Clinical Genetics, University of Medicine, Bydgoszcz, Poland

AIM. The majority of inherited breast and ovarian cancers are caused by a mutation in the BRCA 1 gene. It is estimated that lifetime risk for breast and ovarian cancer in female BRCA 1 mutation carriers, varies from 30 % to 90 %. These hereditary cancers develop at earlier age and are frequently bilateral. The aim of this study was to select families with a history suggesting familial risk of breast and/or ovarian cancer according to pedigree-clinical criteria and to determine the presence or absence of a BRCA 1 mutation. The second aim was to find or to exclude BRCA 1 mutations in the series of consecutive female patients with the onset of breast cancer before 50 years or ovarian cancer at any age and their first- and second-degree relatives. METHODS. Three mutations, the most frequent in Polish population: in exon 5(300T/G), in exon 11.17 (4153delA) and in exon 20 (5382insC) were examined by PCR multiplex method. An analysis of 233 families according to pedigree-clinical criteria resulted in the diagnosis of hereditary breast cancer syndrome - site specific (HBC) in 33 (14%) families, hereditary breast and ovarian cancer syndrome (HBOC) in 22 (10%) families and ovarian cancer site specific syndrome (HOC) in 5 (2%). BRCA 1 mutations were investigated in 68 selected families. RESULTS. In 3 families mutations of exon 5 (300T/G), and in 2 families mutations of exon 20 (5382insC) were found. The results of investigations are useful in genetic counseling for patients and theirs families and in early prophylaxis of breast, ovarian and related cancers in BRCA 1 – mutation carriers and in families with pedigree-diagnosed high probability of HBC, HOC or HBOC in which the mutations were not found.

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Paper presented at the International Symposium on Predictive Oncology and Intervention Strategies; Paris, France; February 9 - 12, 2002; in the section on Familial and Hereditary Cancer.