BRCA1 and BRCA2 mutations in Turkish familial and non-familial and non-familial ovarian cancer patients: a high incidence of mutations in non-familial cases

Yazici H., Glendon G., Yazici H., Burnie S., Saip P., Buyru F., ...Daha Fazla

HUMAN MUTATION, cilt.20, sa.1, ss.28-34, 2002 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 20 Sayı: 1
  • Basım Tarihi: 2002
  • Doi Numarası: 10.1002/humu.10090
  • Dergi Adı: HUMAN MUTATION
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.28-34
  • Anahtar Kelimeler: BRCA1, BRCA2, mutation screening, ovarian cancer, Turkish, germline, sporadic, hereditary cancer, BREAST-CANCER, SUSCEPTIBILITY GENE, GERMLINE BRCA1, 185DELAG MUTATION, HIGH-FREQUENCY, SERIES, PENETRANCE, CARRIERS, HISTORY, RISKS
  • İstanbul Üniversitesi Adresli: Hayır

Özet

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.