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BRCA1 and BRCA2 mutations in Turkish breast/ovarian families and young breast cancer patients.
Br J Cancer. 2000 Sep; 83(6):737-42.BJ

Abstract

To date, BRCA1 and BRCA2 mutations in breast and/or ovarian patients have not been characterized in the Turkish population. We investigated the presence of BRCA mutations in 53 individuals with a personal and family history of breast and/or ovarian cancer, and 52 individuals with a personal history of breast cancer diagnosed below age 50 without additional family history. We have identified 11 mutations (nine BRCA1 and two BRCA2) using combined techniques involving protein truncation test, direct sequencing and heteroduplex analysis. We found eight out of 53 patients (15.1%) with a family history to carry BRCA gene mutations (seven BRCA1 and one BRCA2). Of these, four were found in 43 families presenting only breast cancer histories, and four were found in families presenting ovarian cancer with or without breast cancer. We also demonstrated two BRCA1 and one BRCA2 mutations in three out of 52 (5.8%) early-onset breast cancer cases without additional family history. Three of nine BRCA1 and both BRCA2 mutations detected in this study were not reported previously. These mutations may be specific to the Turkish population. The BRCA1 5382insC mutation, specific to Ashkenazi and Russian populations, was found twice in our study group, representing a possible founder mutation in the Turkish population.

Authors+Show Affiliations

Centre for Cancer Genetics, Department of Pathology and Laboratory Medicine, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Canada.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

10952777

Citation

Yazici, H, et al. "BRCA1 and BRCA2 Mutations in Turkish Breast/ovarian Families and Young Breast Cancer Patients." British Journal of Cancer, vol. 83, no. 6, 2000, pp. 737-42.
Yazici H, Bitisik O, Akisik E, et al. BRCA1 and BRCA2 mutations in Turkish breast/ovarian families and young breast cancer patients. Br J Cancer. 2000;83(6):737-42.
Yazici, H., Bitisik, O., Akisik, E., Cabioglu, N., Saip, P., Muslumanoglu, M., Glendon, G., Bengisu, E., Ozbilen, S., Dincer, M., Turkmen, S., Andrulis, I. L., Dalay, N., & Ozcelik, H. (2000). BRCA1 and BRCA2 mutations in Turkish breast/ovarian families and young breast cancer patients. British Journal of Cancer, 83(6), 737-42.
Yazici H, et al. BRCA1 and BRCA2 Mutations in Turkish Breast/ovarian Families and Young Breast Cancer Patients. Br J Cancer. 2000;83(6):737-42. PubMed PMID: 10952777.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - BRCA1 and BRCA2 mutations in Turkish breast/ovarian families and young breast cancer patients. AU - Yazici,H, AU - Bitisik,O, AU - Akisik,E, AU - Cabioglu,N, AU - Saip,P, AU - Muslumanoglu,M, AU - Glendon,G, AU - Bengisu,E, AU - Ozbilen,S, AU - Dincer,M, AU - Turkmen,S, AU - Andrulis,I L, AU - Dalay,N, AU - Ozcelik,H, PY - 2000/8/23/pubmed PY - 2000/9/30/medline PY - 2000/8/23/entrez SP - 737 EP - 42 JF - British journal of cancer JO - Br J Cancer VL - 83 IS - 6 N2 - To date, BRCA1 and BRCA2 mutations in breast and/or ovarian patients have not been characterized in the Turkish population. We investigated the presence of BRCA mutations in 53 individuals with a personal and family history of breast and/or ovarian cancer, and 52 individuals with a personal history of breast cancer diagnosed below age 50 without additional family history. We have identified 11 mutations (nine BRCA1 and two BRCA2) using combined techniques involving protein truncation test, direct sequencing and heteroduplex analysis. We found eight out of 53 patients (15.1%) with a family history to carry BRCA gene mutations (seven BRCA1 and one BRCA2). Of these, four were found in 43 families presenting only breast cancer histories, and four were found in families presenting ovarian cancer with or without breast cancer. We also demonstrated two BRCA1 and one BRCA2 mutations in three out of 52 (5.8%) early-onset breast cancer cases without additional family history. Three of nine BRCA1 and both BRCA2 mutations detected in this study were not reported previously. These mutations may be specific to the Turkish population. The BRCA1 5382insC mutation, specific to Ashkenazi and Russian populations, was found twice in our study group, representing a possible founder mutation in the Turkish population. SN - 0007-0920 UR - https://www.unboundmedicine.com/medline/citation/10952777/BRCA1_and_BRCA2_mutations_in_Turkish_breast/ovarian_families_and_young_breast_cancer_patients_ L2 - https://doi.org/10.1054/bjoc.2000.1332 DB - PRIME DP - Unbound Medicine ER -