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    Decoding Lynch syndrome -- Colorectal cancer(CRC) Lynch syndrome is the most common cause of inherited Colorectal cancer (CRC-large intestine cancer). It constitutes 3% of all newly diagnosed colorectal cancer burden. In lynch syndrome there is germline mutation in DNA mismatch repair (MMR) genes. It has a autosomal dominant pattern of inheritance. MLH1; MSH2; MSH6; PMS-2 are genes that are commonly mutated which results in changes in repetitive nucleoside sequences known as microsatellite. These changes in microsatellites ie microsatellite instability (MSI) result in change of expression of genes involved in cell growth. MSI is not specific for Lynch syndrome but can be seen in other sporadic CRC patients. Progression of adenoma to carcinoma in these families and patients takes 3 years as compared to a decade or longer in sporadic cancers. Screening for Lynch syndrome is done using IHC or MSI testing from tumor tissue but are confirmed by gene sequencing in somatic or germline specimen. Life time risk of developing CRC in lynch family is 10-47% depending on the gene mutated. CRC in lynch involve usually right colon and the survival in patients with lynch syndrome developing CRC is better. Screening strategy for lynch family include Colonoscopy (every 1-2 years) beginning 5 years prior to the age of the earliest diagnosed CRC patient in family. Prophylactic hysterectomy and bilateral salphingo-oopherectomy after age of 40 years is recommended for preventing endometrial cancer.
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