RT Journal Article
SR Electronic
T1 Germline <em>NBS1</em> Mutations in Families with Aggregation of Breast and/or Ovarian Cancer from North-East Poland
JF Anticancer Research
JO Anticancer Res
FD International Institute of Anticancer Research
SP 3015
OP 3018
VO 27
IS 4C
A1 CELINA KANKA
A1 IZABELA BROZEK
A1 BEATA SKALSKA
A1 ANNA SIEMIATKOWSKA
A1 JANUSZ LIMON
YR 2007
UL http://ar.iiarjournals.org/content/27/4C/3015.abstract
AB 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.