MLH1 Ile219Val Polymorphism in Argentinean Families with Suspected Lynch Syndrome (no ovarian cancers found) Ovarian Cancer and Us OVARIAN CANCER and US Ovarian Cancer and Us

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Friday, September 09, 2016

MLH1 Ile219Val Polymorphism in Argentinean Families with Suspected Lynch Syndrome (no ovarian cancers found)



open access

Patient Selection

The Hereditary cancer registry of the Hospital Italiano de Buenos Aires is a national Argentinean registry that contains information of all families identified with proven or suspected hereditary cancer. Through research collaborations, data from the registry is freely available. This prospective database contains clinical, molecular, and familial data, which is clinically relevant. In addition, the electronic medical records of these patients can be reviewed to retrieve further data.
We obtained molecular (genetic testing) and epidemiological data (family history) from 48 families that fulfilled AC (n = 33), Bethesda guidelines criteria (n = 8), and families suggestive of a dominant CRC inheritance syndrome (n = 7) (7, 8, 24) between 2009 and 2016. Family pedigree was constructed based on the information provided by the proband during one or more genetic counseling sessions.

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