A unique BRCA1 mutation identified in Mongolia.

  title={A unique BRCA1 mutation identified in Mongolia.},
  author={Laurie M Elit and Elaine Jack and Elaine Kwan and G Baigal and Steven A Narod},
  journal={International journal of gynecological cancer : official journal of the International Gynecological Cancer Society},
  volume={11 3},
This is a case report of genetic assessment conducted on a family residing in the third world where two sisters have presented with early onset ovarian cancer. Protein truncation testing and DNA sequencing identified a unique mutation on exon 11 (3452delA) of the BRCA1 gene. Buccal swab testing of three siblings and three offspring showed that half of the family members carried the same mutation. Currently, genetic testing in third-world countries is conducted within research budgets, as… CONTINUE READING