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Introduction/Background Ovarian cancer (OC) is proven to be influenced by alterations in some DNA repair genes (e.g. BRCA1/2). In our work, we analyzed in DNA repair genes polymorphisms (SNPs) by TaqMan genotyping in OC peripheral blood samples. Methodology An association study of SNPs rs1799782, rs25487, rs1130409, rs13181, rs11615, rs1799794, rs861539, rs1042522, rs1799977 and rs1800734 of genes XRCC1, APEX1, ERCC2, ERCC1, XRCC3, MLH1 and TP53 was performed in the germinal DNA of 185 patients and 129 healthy controls. Results The GA genotype of XRCC1 polymorphism rs1799782, the CC genotype of TP53 polymorphism rs1042522 and the GG genotype of MLH1 polymorphism rs1800734 were associated with increased susceptibility to OC. The T allele of APEX1 polymorphism rs1130409 was associated with a later onset of the disease and hereditary OC. In relation to XRCC3 gene (rs1799794), the TT genotype was associated with increased OC susceptibility in aging patients and patients with familial OC. In relation to MLH1 gene (rs1800734), the GG genotype was associated with greater OC susceptibility in old patients and in patients with hereditary OC. The SNP rs1799977 of MLH1 gene was associated with an increased risk of recurrence. Conclusion Our study suggests that DNA repair genes different from BRCA1/2 like XRCC1, TP53, MLH1, XRCC3 and APEX1 could modify the risk of developing OC. This project was funded by FIS-FEDER PI16/01920. Disclosure Nothing to disclose.

[Background]: Conradi-Hünermann-Happle syndrome (CDPX2, OMIM 302960) is an inherited X-linked dominant variant of chondrodysplasia punctata which primarily affects the skin, bones and eyes. CDPX2 results from mutations in EBP (emopamil binding protein), and presents with increased levels of sterol precursors 8(9)-cholestenol and 8-dehydrocholesterol. [Objectives]: To expand the understanding of CDPX2, clinically, biochemically and genetically. [Methods]: We present one of the largest series reported to date, including 13 female patients belonging to nine Spanish families. Patients were studied biochemically using gas chromatography-mass spectrometry, genetically using polymerase chain reaction and in their methylation status using the HUMARA assay. [Results]: In our cases, there was a clear relationship between abnormal sterol profile and the EBP gene mutation. We describe three novel mutations in the EBP gene. EBP mutations were inherited in three out of nine families and were sporadic in the remaining cases. [Conclusions]: No clear genotype-phenotype correlation was found. Patients' biochemical profiles did not reveal a relationship between sterol profiles and severity of disease. A skewed X-chromosome inactivation may explain the clinical phenotype in CDPX2 in some familial cases. © 2011 The Authors. BJD © 2011 British Association of Dermatologists.