BRCA1 and BRCA2 mutations in Turkish breast and ovarian cancer patients
Author Information
Author(s): 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
Primary Institution: Centre for Cancer Genetics, Department of Pathology and Laboratory Medicine, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Canada
Hypothesis
The study investigates the presence of BRCA mutations in the Turkish population.
Conclusion
The study identified specific BRCA mutations in Turkish individuals with breast and ovarian cancer.
Supporting Evidence
- The study identified 11 mutations, including nine BRCA1 and two BRCA2.
- 15.1% of patients with a family history carried BRCA mutations.
- 5.8% of early-onset breast cancer cases had BRCA mutations.
- Three of the mutations were not previously reported.
Takeaway
The researchers looked at people in Turkey with breast and ovarian cancer and found some special gene changes that might be common in that group.
Methodology
The study used protein truncation test, direct sequencing, and heteroduplex analysis to identify mutations.
Participant Demographics
The study included 53 individuals with a family history of breast/ovarian cancer and 52 individuals with early-onset breast cancer.
Digital Object Identifier (DOI)
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