BRCA 1/2 mutations in a first cohort of 145 Slovenian breast/ovarian cancer families tested

BRCA2 Gene Mutations in Slovenian Male Breast Cancer Patients

“…Because of limited funds for our study, we made a compromise in the laboratory tests that were performed. So, the DNA samples of sporadic MBC patients were screened only for four highly recurrent mutations previously identified in the Slovenian population, which were found in 68% of the Slovenian BRCA1=2 families (Krajc et al, 2007), while more extensive genetic screening was performed when two breast cancer cases were observed in a family. Only in families with three cases of breast cancer or with one ovarian cancer and at least one breast cancer, all remaining small exons as well as the extremities of the large exons were further analyzed by DGGE.…”

“…According to the BIC database (Breast Cancer Information Core Internet Website, 2005), this mutation was reported worldwide only three times, twice by Myriad in ''Western Europeans'' and once by Santarosa from Aviano in Italy (Santarosa et al, 1999), a city close to Slovenian border. To date, the IVS16-2A>G mutation has been found in 10 Slovenian families (Krajc et al, 2007). Ten male relatives were submitted to a genetic analysis, and seven tested positive; three of them had breast cancer.…”

“…Obviously, the BRCA2 IVS16-2A>G mutation affects males and females. It is remarkable that none of the 22 Slovenian IVS16-2A>G founder BRCA2 gene mutation carriers has had any other malignant disease except breast or ovarian cancer (Krajc et al, 2007), except for an MBC patient carrier of the Slovenian founder mutation who has two relatives with thyroid cancer. Since these two relatives were not tested for the presence of the BRCA2 gene mutation yet, it is not known if their thyroid cancer is related to the mutation segregating in the family.…”

“…Because of very limited funds for our study, we made a compromise in the laboratory tests that were performed. Therefore, the DNA samples from sporadic MBC patients were screened only for four highly recurrent mutations previously identified in the Slovenian population (Krajc et al, 2002(Krajc et al, , 2007. The denaturing gradient gel electrophoresis (DGGE) analysis (van der Hout et al, 2006) of these four representative PCR fragments (exons 5 and 20 from BRCA1, exon 17 from BRCA2, and a fragment of BRCA1 exon 11 harboring the 1806C>T mutation) leads to the detection of breast cancer predisposing mutations in 68% of the Slovenian BRCA1=2 families (Krajc et al, 2007).…”

“…Therefore, the DNA samples from sporadic MBC patients were screened only for four highly recurrent mutations previously identified in the Slovenian population (Krajc et al, 2002(Krajc et al, , 2007. The denaturing gradient gel electrophoresis (DGGE) analysis (van der Hout et al, 2006) of these four representative PCR fragments (exons 5 and 20 from BRCA1, exon 17 from BRCA2, and a fragment of BRCA1 exon 11 harboring the 1806C>T mutation) leads to the detection of breast cancer predisposing mutations in 68% of the Slovenian BRCA1=2 families (Krajc et al, 2007). When two breast cancer cases were observed in a family, a protein truncation test (PTT) was in addition performed on the large exons (exon 11 of BRCA1; exons 10 and 11 of BRCA2) (Hogervorst et al, 1995).…”