Prediction of germline mutations and cancer risk in the Lynch syndrome

Article Abstract:

A genetic counseling and risk prediction tool that estimates the probability of carrying a deleterious mutation in mismatch repair genes MLH1, MSH2, or MSH6 and the probability of developing colorectal or endometrial cancer in the Lynch syndrome is developed. The MMRpro model is a broadly applicable, accurate prediction model than can contribute to screening and genetic counseling practices in high-risk population and it is applicable to individuals for whom tumor samples are not available and to individuals in whom germline testing finds no mutation.

United States, Risk factors, Genetic engineering, Cancer, Cancer genetics, Human genetic engineering

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Genetic Testing in Families With Hereditary Nonpolyposis Colon Cancer

Article Abstract:

Many people at risk of hereditary nonpolyposis colon cancer (HNPCC) do not want to be tested for the gene mutations that are linked to this condition. Of 208 family members of patients diagnosed with (HNPCC), only two-thirds agreed to be tested. Forty percent of the 139 people who agreed to be tested declined to receive the results. Of the 84 who did receive their test results, 35 had gene mutations associated with HNPCC. Those with little education and a diagosis of depression were most likely to refuse testing.

Public opinion, Genetic screening, Genetic testing

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History and molecular genetics of Lynch syndrome in family G

Article Abstract:

A study is conducted to update, document, and summarize the history and genetics of Lynch syndrome in family G. The molecular diagnostic testing has transformed the care of family G and other Lynch syndrome families in which a pathogenic mutation are identified.

Gene mutations, Gene mutation, Oncogenes

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