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Jackie07 03-09-2017 01:52 PM

Familial cancer
[Had a good report from the annual brain MRI. "No Change"! Also had a polyp removed during the 5-year colonoscopy this past Monday. Research shows that 1 in 10 polyps turns malignant. Oldest Brother passed from pancreatic cancer a month ago [within 3 weeks after getting the diagnosis]. 2nd Brother is a nine-year colon cancer survivor. My late Mother passed at age 91 - 16 years after having her Non-Hodgkins Lymphoma successfully treated.]

Gastroenterol Res Pract. 2017;2017:2595098. doi: 10.1155/2017/2595098. Epub 2017 Jan 29.
Novel Implications in Molecular Diagnosis of Lynch Syndrome.
Liccardo R1, De Rosa M1, Izzo P2, Duraturo F1.
Author information
Department of Molecular Medicine and Medical Biotechnology, University of Naples "Federico II", 80131 Naples, Italy.
Department of Molecular Medicine and Medical Biotechnology, University of Naples "Federico II", 80131 Naples, Italy; CEINGE Biotecnologie Avanzate, University of Naples "Federico II", 80131 Naples, Italy.
About 10% of total colorectal cancers are associated with known Mendelian inheritance, as Familial Adenomatous Polyposis (FAP) and Lynch syndrome (LS). In these cancer types the clinical manifestations of disease are due to mutations in high-risk alleles, with a penetrance at least of 70%. The LS is associated with germline mutations in the DNA mismatch repair (MMR) genes. However, the mutation detection analysis of these genes does not always provide informative results for genetic counseling of LS patients. Very often, the molecular analysis reveals the presence of variants of unknown significance (VUSs) whose interpretation is not easy and requires the combination of different analytical strategies to get a proper assessment of their pathogenicity. In some cases, these VUSs may make a more substantial overall contribution to cancer risk than the well-assessed severe Mendelian variants. Moreover, it could also be possible that the simultaneous presence of these genetic variants in several MMR genes that behave as low risk alleles might contribute in a cooperative manner to increase the risk of hereditary cancer.

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