Analysis of BRCA2 gene mutations among familial and/or early-onset breast cancer patients in eastern Shandong of China / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the prevalence of BRCA2 gene mutations among familial and/or early-onset breast cancer patients in eastern Shandong of China.</p><p><b>METHODS</b>Fifty-two familial and/or early-onset breast cancer patients from unrelated family were analyzed. Genomic DNA was collected from the peripheral blood mononuclear cells, the coding sequences and exon-intron boundaries of BRCA2 gene were screened using denaturing high performance liquid chromatography (DHPLC), and the abnormal fragments were confirmed with direct DNA sequencing.</p><p><b>RESULTS</b>Three mutations (5.8%) in BRCA2 gene were identified. They were 2001del TTAT, 4099C to T and 5873C to A. To our knowledge, all of them were firstly found in Chinese population. Furthermore, all the three mutations (12%) were identified in familial breast cancer patients, and none was in the early-onset patients.</p><p><b>CONCLUSION</b>BRCA2 may play an important role in the familial breast cancer in eastern Shandong Chinese population, but not in the early-onset breast cancer. It is necessary to give genetic test to familial breast cancer patients in this population.</p>