Genetics in medicine : official journal of the American College of Medical Genetics

observational 2022

Early age of onset and broad cancer spectrum persist in MSH6- and PMS2-associated Lynch syndrome

doi:10.1016/j.gim.2022.02.016 ·PMID:35346574

PURPOSE: This study aimed to characterize MSH6/PMS2-associated mismatch repair-deficient (MMR-D)/microsatellite instability-high (MSI-H) tumors, given revised guidelines suggesting more modest phenotypes. METHODS: Patients who consented to…

meta-analysis 2013

1q21.1 Microduplication expression in adults

doi:10.1038/gim.2012.129 ·PMID:23018752

PURPOSE: Rare, recurrent chromosome 1q21.1 duplications have been associated with developmental delay, congenital anomalies, and macrocephaly in children. Data on adult clinical expression would help to inform genetic counseling. METHODS: …

2013

Mapping the incidentalome: estimating incidental findings generated through clinical pharmacogenomics testing.

doi:10.1038/gim.2012.147 ·PMID:23196672

PurposeGreater clinical validity and economic feasibility are driving the more widespread use of multiplex genetic technologies in routine clinical care, especially for applications in pharmacogenomics. Empirical data on the numbers and typ…

2010

Informational content, literacy demands, and usability of websites offering health-related genetic tests directly to consumers.

doi:10.1097/gim.0b013e3181dbd8b2 ·PMID:20386454

PurposeAs direct-to-consumer genetic testing becomes more available, a diverse group of consumers, including those with limited health literacy, may consider testing. In light of concerns raised about direct-to-consumer genetic testing, thi…