Abstract
Molecular diagnostics of hereditary breast and/or ovarian cancer is mainly based on detection of BRCA1 and BRCA2 germline mutations in suspected families. The aim of the study was to determine the frequency, age and geographical distribution in 130 Slovak hereditary breast and ovarian cancer (HBOC) families diagnosed within the years 2000-2004. Mutation screening was performed by single-strand conformation polymorphism (SSCP), heteroduplex analysis (HDA) and sequencing of PCR products showing an abnormal migration pattern. Twenty of 130 (15.6%) HBOC suspected families were found to carry mutations in BRCA1 or BRCA2 genes. The glossary data from the National Cancer Registry of Slovakia (NCRS) were compared with the results from HBOC suspected kindreds. Age distribution of breast cancer onset in our study group showed the highest proportion of onset in HBC families within the 5th decade of life, while NCRS reports at least a ten year later onset. These findings confirmed that cases of breast cancer under 50 years of age can be used as one of the principal criteria to assign a family as a hereditary breast and/or ovarian cancer kindred. In contrast with unselected ovarian cancer cases, about 75% of all HOC index cases were diagnosed between 40 and 49 years of age. To study the geographical distribution of hereditary breast and/or ovarian cancer, Slovakia was divided into three parts. The distribution of HBOC suspected families approximately follows this division, with an increasing number in the western area of the country.
Highlights
Breast cancer is the most common malignancy affecting women in the Slovak Republic, accounting for 1,858 and 1,827 newly diagnosed breast cancer cases in years 2000 and 2001, respectively (World Standardized Rates 47.0/100,000 and 46.1/100,000)
The study revealed that 20 of 130 (15.6%) hereditary breast and ovarian cancer (HBOC) suspected families carry mutations in BRCA1/BRCA2 genes using standard molecular techniques that included single-strand conformation polymorphism (SSCP), heteroduplex analysis (HDA) and subsequent automatic sequencing of PCR products with aberrant mobility
In this report we focused on HBOC, age and geographical distribution of 130 suspected families from probands diagnosed with disease between and including the years 2000 to 2004
Summary
Breast cancer is the most common malignancy affecting women in the Slovak Republic, accounting for 1,858 and 1,827 newly diagnosed breast cancer cases in years 2000 and 2001, respectively (World Standardized Rates 47.0/100,000 and 46.1/100,000). The complete data from NCRS show that it is the leading cause of cancer-related mortality among Slovak women, the proportion being 15.1% of all cancer cases. According to NCRS evidence, 414 and 449 newly diagnosed cases of ovarian cancer were reported in years 2000 and 2001 (World Standardized Rates: 10.9/100,000 and 11.4/100,000). They represent 4.3% of all cancer deaths, and ovarian cancer is the most frequent cause of death of all gynaecological malignancies.
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