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Detection and characterization of germline mutations in cancer susceptibility genes in patients diagnosed with endometrial cancer and mismatch repair DNA system deficiency


Endometrial cancer (EC) is the most common neoplasm of the female reproductive tract. About ninety percent of cases of this type of cancer are sporadic and the remaining ten percent are associated with genetic factors. Some syndromes of cancer hereditary predisposition have CE in their spectrum of possible neoplasias. One of them, Lynch Syndrome (LS), is responsible for many cases of hereditary EC and its molecular diagnosis consists of the identification of DNA mismatch repair (MMR) deficient tumors and subsequent detection of pathogenic mutations in one of the main genes related to this system: MLH1, MSH2, MSH6 and PMS2. Seventy percent of all MMR deficient EC do not have pathogenic mutations in these genes and are diagnosed as Lynch-Like Syndrome (LLS) because they do not have an established molecular diagnosis. The presence of pathogenic mutations in genes related to other syndromes with phenotypic overlapping to SL may explain some cases diagnosed with LLS. With the advent of massive parallel sequencing technologies, the use of panels with multiple cancer susceptibility genes can provide a differential diagnosis of a portion of cases diagnosed with LLS. It results in adequate genetic management and counseling of individuals and their respective relatives at risk for a specific cancer predisposition syndrome. Thus, the objective of this project to establish molecular diagnosis of syndromes of cancer hereditary predisposition in a series of EC cases with MMR deficiency, from Ribeirão Preto Clinics Hospital using a panel with cancer susceptibility genes. (AU)

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