@article {KANKA3015, author = {CELINA KANKA and IZABELA BROZEK and BEATA SKALSKA and ANNA SIEMIATKOWSKA and JANUSZ LIMON}, title = {Germline NBS1 Mutations in Families with Aggregation of Breast and/or Ovarian Cancer from North-East Poland}, volume = {27}, number = {4C}, pages = {3015--3018}, year = {2007}, publisher = {International Institute of Anticancer Research}, abstract = {Background: NBS1 gene, which product participates in DNA repair, has been postulated to be a susceptibility factor for a number of types of cancer, including breast cancer. The carrier frequency of the 657del5 and I171V NBS1 gene mutations among Polish patients with familial breast and/or ovarian cancer was compared with that of randomly selected newborns. Patients and Methods: Using allele-specific amplification-polymerase chain reaction (ASA-PCR) and restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR) techniques, blood samples were analysed from 250 patients with breast or/and ovarian cancer and a total number of 4,000 for 657del5 mutation and 1,300 for I171V mutation controls. Results: Although an increased frequency of both mutations in cancer cases - 0.8\% of 657del5 and 2.4\% of I171V, compared to controls - 0.52\% and 1.38\%, respectively, was found, the differences were not statistically significant. Conclusion: Our results indicate that NBS1 mutations do not contribute significantly to breast or ovarian cancer development.}, issn = {0250-7005}, URL = {https://ar.iiarjournals.org/content/27/4C/3015}, eprint = {https://ar.iiarjournals.org/content/27/4C/3015.full.pdf}, journal = {Anticancer Research} }