Published in Cancer Detection and Prevention 2000; 24(Supplement 1).

Genetic screening for familial breast/ovarian and colon cancer in Greece

A Kataki, C Liacos, A Armakolas, EB Chatzigianni MD, E Leandros, G Androulakis

A Dept Propaedeutic Surgery, Laboratory of Surgical Research, University of Athens, Medical School, Athens, Greece,

AIM: Breast cancer is one of the most common malignancies among women. Epidemiological data indicates that 5-10% of all breast cancers are associated with autosomal tumour suppressor susceptibility genes. The breast and ovarian susceptibility gene, designated BRCA1 is mapped to chromosome region 17q12-q21. A variety of germline mutations of the BRCA1 gene have been described in approximately half of the families that display a heritable susceptibility to breast cancer. The mutant BRCA1 allele confers lifetime risks in women of 80-90% for breast cancer and 40-50% for ovarian cancer. Early detection of individuals and their families who are at-risk is of high priority in the management of breast cancer. METHODS: The initial experience of our group in the identification of mutations in this gene using the techniques of single-strand conformational polymorphism (SSCP) analysis followed by DNA sequencing, has led so far to the identification of two patients with alterations in exon 11 (nt 2196 and nt 2306) of the BRCA1 gene. RESULTS/CONCLUSIONS: Our opinion is that these tests are tedious and costly. Still, benefit surpasses cost since early detection can increase survival of high-risk individuals. Before proceeding to the widespread use of genetic screening programs ethical, legal, and psychosocial implications should be resolved.

KEY WORDS: familial breast-ovarian and colon cancer, BRCA1 gene , screening.

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Paper presented at the International Symposium on Impact of Biotechnology on Cancer Diagnostic & Prognostic Indicators; Geneva, Switzerland; October 28 - 31, 2000; in the section on genetic risk assessment.