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BRCA1 and BRCA2 mutations in Turkish familial and non‐familial ovarian cancer patients: a high incidence of mutations in non‐familial cases
Author(s) -
Yazici Hulya,
Glendon Gordon,
Yazici Hilal,
Burnie Steve J.,
Saip Pánar,
Buyru Faruk,
Bengisu Ergin,
Andrulis Irene L.,
Dalay Nejat,
Ozcelik Hilmi
Publication year - 2002
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.10090
Subject(s) - ovarian cancer , turkish population , serous fluid , oncology , medicine , cancer , turkish , brca2 protein , biology , mutation , gynecology , germline mutation , genetics , gene , genotype , linguistics , philosophy
Ovarian cancer is a clinically important cancer in Turkey. The contribution of BRCA1 and BRCA2 to ovarian cancer in Turkish patients has not previously been described. In this study we investigated the presence of BRCA1 and BRCA2 mutations in 102 consecutively ascertained, hospital‐based, ovarian cancer cases. Four out of 15 (26.7%, 95% confidence interval (CI), 7.8%–55.1%) familial cases were found to carry mutations in BRCA1. Thirteen of the 87 (14.9%, 95% CI, 7.5%–22.4%) non‐familial cases had BRCA1 and BRCA2 mutations, six in BRCA1, and seven in BRCA2. We have further studied the non‐familial ovarian cancer cases to determine which subgroups have a likelihood of carrying clinically important mutations. Our study shows that those Turkish ovarian cancer patients with serous histopathology harbor a high proportion of mutations (12/58, 20.7%, 95% CI, 10.3%–31.1%) compared to all non‐familial cases (14.9%) regardless of pathology. Within the serous sub‐group, those that were also diagnosed below age 50 have an even greater percentage of mutations (8/28, 28.6%, 95% CI, 11.8%–45.3%). Our findings demonstrate that a substantial proportion of Turkish ovarian cancer patients, both with and without a family history, carry BRCA1 and BRCA2 mutations, demonstrating the importance of BRCA1 and BRCA2 in the development of ovarian cancer in this population. © 2002 Wiley‐Liss, Inc.