Population screening of novel changes described in BRCA1 and BRCA2 genes in breast and/or ovarian cancer patients.

It is known that, BRCA1 and /or BRCA2 genes? mutation carriers have predisposition to breast and ovarian cancers as well as other organ cancers such as prostate, colon, and cervix. In the previous study, which was performed in our department, all coding exons of both genes were screened by DGGE. In addition to various nonsense, missense mutations, polymorphisms, and intronic regions changes, seven novel missense mutations including H513L, H816P, S1517Y in BRCA1 and S326R, G258P, E2903K, N2742S in BRCA2 had been identified. In order to contribute to determine if these unclassified variants are pathogenic, DNA samples of 150 healthy individuals without a known cancer history in the family were screened in this study for these seven novel missense mutations. These DNA samples were recruited from archives of previous polymorphism studies. DNA amplifications were performed by PCR and mutation screenings were done by DHPLC techniques. Peak patterns suggestive of a change in DNA fragment were considered for sequencing analyses. Analyses revealed that none of the 150 DNA samples have any change in the screened seven fragments. As a result, it is assumed that these seven mutations might be novel pathogenic mutations described in Turkish populationIn conclusion, it is crucial that these carriers to be informed about the mutation and provided with appropriate genetic counseling with their physicians and genetic testing should be offered to high risk individuals (men/women) in the family. So that, it would be possible for other family members to have genetic counseling and contribute to disease prevention. On the other hand, these findings would contribute to current literature with the novel findings and shed light on future researches.