Leora Witkowski and Jian Carrot-Zhang, PhD students in human genetics at McGill University, are the award winners of the Fonds Santé, one of the three Fonds awards of the Fonds de recherche du Québec. Their award winning publication Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type is published in Nature Genetics 46, 438-443 (2014).
Leora’s and Jian’s publication confirmed for the first time that SCCOHT is a monogenic disorder and that deleterious germline mutations in the chromatin remodelling gene SMARCA4 predispose to the development of SCCOHT. Their discovery provides women with a family history of early onset ovarian cancer with the option of being tested for germline mutations in SMARCA4, and provides patients with an answer as to why the cancer developed.
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In addition to promoting research careers in Québec, this competition recognizes the exceptional research contributions of college and university students (bachelor’s, master’s, doctorate), postdoctoral fellows and members of professional bodies who are enrolled in advanced research training programs in the areas covered by the three Fonds de recherche du Québec.
To learn more about the awards, click here.