Association between polymorphisms in RMI1, TOP3A, and BLM and risk of cancer, a case-control study.

ABSTRACT:

Background

Mutations altering BLM function are associated with highly elevated cancer susceptibility (Bloom syndrome). Thus, genetic variants of BLM and proteins that form complexes with BLM, such as TOP3A and RMI1, might affect cancer risk as well.

Methods

In this study we have studied 26 tagged single nucleotide polymorphisms (tagSNPs) in RMI1, TOP3A, and BLM and their associations with cancer risk in acute myeloid leukemia/myelodysplatic syndromes (AML/MDS; N = 152), malignant melanoma (N = 170), and bladder cancer (N = 61). Two population-based control groups were used (N = 119 and N = 156).

Results

Based on consistency in effect estimates for the three cancer forms and similar allelic frequencies of the variant alleles in the control groups, two SNPs in TOP3A (rs

SUBMITTER: Broberg K 

PROVIDER: S-EPMC2685436 | biostudies-literature | 2009 May

REPOSITORIES: biostudies-literature