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Background  Genes in the homologous recombination pathway have shown varying results in the literature regarding ovarian cancer (OC) association. Recent case-control studies have used allele counts alone to quantify genetic associations with cancer.    Methods  A retrospective case-control study was performed on 6,182 women with OC referred for hereditary cancer multi-gene panel testing (cases) and 4,690 mothers from trios who were referred for whole-exome sequencing (controls). We present age-adjusted odds ratios (OR Adj ) to determine association of OC with pathogenic variants (PVs) in homologous recombination genes.    Results  Significant associations with OC were observed in  BRCA1, BRCA2, RAD51C  and  RAD51D.  Other homologous recombination genes,  BARD1, NBN,  and  PALB2,  were not significantly associated with OC.  ATM  and  CHEK2  were only significantly associated with OC by crude odds ratio (OR Crude ) or by OR Adj , respectively. However, there was no significant difference between OR Crude  and OR Adj  for these two genes. The significant association of PVs in  BRIP1  by OR Crude  (2.05, CI = 1.11 to 3.94,  P  = 0.03) was not observed by OR Adj  (0.87, CI = 0.41 to 1.93,  P  = 0.73). Interestingly, the confidence intervals of the two effect sizes were significantly different ( P  = 0.04).    Conclusion  The lack of association of PVs in  BRIP1  with OC by OR Adj  is inconsistent with some previous literature and current management recommendations, highlighted by the significantly older age of OC onset for  BRIP1  PV carriers compared to non-carriers. By reporting OR Adj , this study presents associations that reflect more informed genetic contributions to OC when compared to traditional count-based methods.    Electronic supplementary material  The online version of this article (10.1186/s13053-019-0119-3) contains supplementary material, which is available to authorized users.

Age-adjusted association of homologous recombination genes with ovarian cancer using clinical exomes as controls