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¹ Cancer Genomics Laboratory, Oncology and Molecular Endocrinology Research Center, Centre Hospitalier Universitaire de Québec and Laval University, Quebec G1V 4G2, Canada² Plate-Forme Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civil de Lyon/Centre Léon Bérard, 69373 Lyon Cedex 08, France³ Canada Research Chair in Oncogenetics

(Correspondence should be addressed to J Simard who is now at Cancer Genomics Laboratory, CHUL Research Center, CHUQ, 2705 Laurier Boulevard, T3-57, Quebec City, Quebec G1V 4G2, Canada; Email: jacques.simard{at}crchul.ulaval.ca)

^* *Other members of INHERIT BRCAs involved in clinical aspects of the program are listed in the Appendix

Estrogen exposure is a risk factor for breast cancer. Given that HSD17B2 gene encodes an enzyme that catalyses estradiol inactivation, it appears as a good candidate breast cancer susceptibility gene. This study was designed to screen for HSD17B2 germline mutations potentially involved in breast cancer predisposition. Our re-sequencing analysis did not identify any deleterious germline mutations, and therefore mutations in HSD17B2 do not explain the clustering of breast cancer cases in non-BRCA1/2 high-risk French Canadian families. However, six sequence variants were identified, including two novel missense variants. Expression assays revealed that p.Ala111Asp and p.Gly160Arg did not alter the catalytic properties of 17β-hydroxysteroid dehydrogenase type 2 enzyme, although p.Ala111Asp appears to affect protein stability resulting in significant decreases in the protein levels, providing valuable information on structure–function relationship.