BRCA1 and BRCA2 mutations in a South American population.

  title={BRCA1 and BRCA2 mutations in a South American population.},
  author={Lilian Jara and Sandra Ll Ampuero and Eudocia Santib{\'a}{\~n}ez and Lorena Seccia and Juan Pedro Rodriguez and Mario Bustamante and V{\'i}ctor A. Mart{\'i}nez and Alejandra Catenaccio and Guillermo Lay-Son and Rafael W Blanco and Jos{\'e} Luis Reyes},
  journal={Cancer genetics and cytogenetics},
  volume={166 1},
A sample of 64 high-risk breast and/or ovarian cancer families from Chile were screened for germline mutations in the coding sequences and exon-intron boundaries of BRCA1 (MIN no. 113705) and BRCA2 (MIN no. 600185) genes using conformation-sensitive gel electrophoresis, and the mutations found were confirmed with direct sequencing. Seven families (10.9%) were found to carry BRCA1 mutations and three families (4.7%) had BRCA2 mutations. Six different pathogenic mutations were detected in BRCA1… CONTINUE READING


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