Microsatellite Instability

Although, the hereditary ECs most prevalent in Lynch syndrome can be classified histologically with sporadic type I ECs, the hereditary ECs are characterized by a third molecular mechanism (supra vide). These tumors show increased MSI secondary to germline mutations in the MMR genes (20). So far, at least 39 types of MMR mutations have been found in HNPCC syndrome families, including the more common mutations of MLH1, MSH2, and MSH6(28). Sporadic EC, can also be MSI positive. Studies have shown higher MSI levels (17%) in endometrioid EC as compared with the nonendometrioid cancers (5%) (29). But the specific, frequently occurring MMR mutations in sporadic tumors are

Chapter 12 / Hereditary Factors in

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