Clinical findings with implications for genetic testing in families with clustering of colorectal cancer

Article Abstract:

Certain medical conditions appear to be associated with mutations in DNA mismatch repair genes that could lead to colorectal cancer. These genes produce enzymes that repair DNA damage. Researchers used genetic analysis to identify these mutations in blood samples from 184 families with a history of colorectal cancer. Twenty-six percent had a mutation in the MSH2 or MLH1 DNA repair genes. Those with the mutations were more likely to develop cancer at a young age, and have more than one type of cancer in the same patient or family members.

Colorectal cancer, Gene mutations, Gene mutation

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Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation

Article Abstract:

A study was conducted to show that idiopathic atrial fibrillation has a generic basis and that tissue-specific mutations in GJA5, the gene encoding connexin 40, might predispose the atria to fibrillation. The findings from the data suggest that common diseases traditionally considered to be idiopathic might have a genetic basis, with mutations confined to the diseased tissue.

Atrial fibrillation, Disease/Disorder overview, Somatic therapy

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