A unique BRCA1 mutation identified in Mongolia

Citation
L. Elit et al., A unique BRCA1 mutation identified in Mongolia, INT J GYN C, 11(3), 2001, pp. 241-243
Citations number
6
Categorie Soggetti
Reproductive Medicine
Journal title
INTERNATIONAL JOURNAL OF GYNECOLOGICAL CANCER
ISSN journal
1048891X → ACNP
Volume
11
Issue
3
Year of publication
2001
Pages
241 - 243
Database
ISI
SICI code
1048-891X(200105/06)11:3<241:AUBMII>2.0.ZU;2-G
Abstract
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.