Analysis of BRCA1 mutations in Chinese patients with early onset breast cancer and affected relatives / 中华肿瘤杂志

ABSTRACT

<p><b>OBJECTIVE</b>To study the BRCA1 mutations in Chinese patients with early onset breast cancer and affected relatives.</p><p><b>METHODS</b>Genomic DNA from 41 patients' peripheral blood mononuclear cells was studied by using polymerase chain reaction-single strand conformational polymorphism (PCR-SSCP) and DNA sequencing. BRCA1 mutations were detected in the whole gene sequence.</p><p><b>RESULTS</b>Disease-related BRCA1 mutations were detected in 3 of the 41 patients studied. Two of the 3 patients were younger than 35 years old, and one patient with family history.</p><p><b>CONCLUSION</b>The incidence of BRCA1 mutations in Chinese patients with early onset breast cancer is similar to that reported from western countries, but the incidence of mutations in Chinese breast cancer patients with affected relatives is comparatively low.</p>