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 ovaria
n cancer. Protein truncation testing and DNA sequencing identified a unique
mutation on exon 11 (3452delA) of the BRCA1 gene. Buccal swab testing of t
hree siblings and three offspring showed that half of the family members ca
rried the same mutation. Currently, genetic testing in third-world countrie
s is conducted within research budgets, as testing is not affordable or loc
ally available for such high-risk families. Unique mutations in the BRCA1 g
ene that are expressed in geographically isolated groups will be useful in
genetic counseling and preventative maneuvers. The only preventive manageme
nt strategy available in the third world is prophylactic surgery.