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Fanconi anemia (FA) is a rare genetically heterogeneous disorder associated   with bone marrow failure, birth defects and cancer susceptibility. Apart from   the disease- causing mutations in FANC genes, the identification of specific   DNA variations, such as single nucleotide polymorphisms (SNPs), in other   candidate genes may lead to a better clinical description of this condition   enabling individualized treatment with improvement of the prognosis. In this   study, we have assessed 95 SNPs located in 52 key genes involved in base   excision repair (BER), nucleotide excision repair (NER), mismatch repair   (MMR), double strand break (DSB) repair and cell cycle control using a DNA   repair chip (Asper Biotech, Estonia) which includes most of the common   variants for the candidate genes. The SNP genotyping was performed in five   FA-D2 patients and in one FA-A patient. The polymorphisms studied were   synonymous (n=10), nonsynonymous (missense) (n=52) and in non-coding regions   of the genome (introns and 5 ‘and 3’ untranslated regions (UTR)) (n=33).   Polymorphisms found at the homozygous state are selected for further   analysis. Our results have shown a significant inter-individual variability   among patients in the type and the frequency of SNPs and also elucidate the   need for further studies of polymorphisms located in ATM, APEX APE 1, XRCC1,   ERCC2, MSH3, PARP4, NBS1, BARD1, CDKN1B, TP53 and TP53BP1 which may be of   great importance for better clinical description of FA. In addition, the   present report recommends the use of SNPs as predictive and prognostic   genetic markers to individualize therapy of FA patients. [Projekat   Ministarstva nauke Republike Srbije, br. 173046

Assessment of single nucleotide polymorphisms in screening 52 DNA repair and cell cycle control genes in Fanconi anemia patients