Premium
BRCA1 genetic testing in a Pakistani breast‐ovarian cancer family with multiple consanguineous marriages
Author(s) -
Rashid M. U.,
Muhammad N.,
Iqbal K.,
Yusuf H. A.,
Hamann U.
Publication year - 2015
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12533
Subject(s) - breast cancer , cancer , german , medicine , ovarian cancer , family medicine , gynecology , history , archaeology
Women harboring pathogenic germline mutations in the BRCA1 and BRCA2 genes have high lifetime risks of developing breast and ovarian cancer (1). Therefore, it is clinically relevant to identify individuals harboring BRCA1/2 mutations to optimize cancer risk management (2). Initially the genetic risk is assessed based on a comprehensive personal and family history of cancer. Genetic testing is then offered to the breast/ovarian cancer patient. If a pathogenic mutation is identified then predictive genetic testing (PGT) is extended to the patient’s first-degree relatives and helps guide testing decisions for