We typed 100 unrelated healthy Poles from Low Silesia region for HLA-C using low resolution PCR-SSP and compared observed allele frequencies with data published for other human populations. Poles appeared to be most similar to Germans and Englishmen, and were more distant from French, Catalans and Basques and dissimilar to non-Caucasoids from Equatorial Guinea and Japan. It would be interesting to HLA-C-type other Slavian and non-Slavian people from Middle and Eastern Europe for comparison.
Germline mutations of the p53 gene confer a high risk of diverse malignancies. The highest frequency of inherited p53 defects was noted in Li-Fraumeni syndrome (LFS), but almost half of the mutations were found in families with incomplete Li-Fraumeni-like syndrome (LFL), including familial breast cancer cases. Recently, a germline intronic G13964C base change of the p53 was reported as a high-risk mutation associated with familial breast cancer (Lehman et al. 2000). We genotyped Polish cancer patients and healthy control individuals for the G13964C variant. Patients were chosen from cancer families with phenotypes typical for germline mutations of p53 (LFS, LFL), BRCA1 [hereditary breast (ovarian) cancer, HB(O)C] or a complex consistent with both LFL and HB(O)C. Children with leukemia were included in the study as another high risk group (Felix et al. 1992). The G13964C variant was detected in six of 87 (6.9%) cancer patients (including two ALL children), but also in eight of 96 (8.3%) control individuals (p > 0.4). Thus we found no evidence of the variant?s association with a high risk of cancer.
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