Further exploration of the functional relevance of the strongest hits in the 17q21.31 locus (P<10−8 in BRCA1/2 combined) provided evidence that cis-regulatory variation alters expression of several genes at 17q21, including PLEKHM1, c17orf69, ARHGAP27, MAPT, KANSL1 and WNT3[39], [41] (Table S9, Figure S12), suggesting that ovarian cancer risk may be associated with altered expression of one or more genes in this region. The gene discussed is PLEKHM1; the disease is ovarian carcinoma.