In CRC, mismatch repair (MMR) was the first DNA repair pathway to be linked to prognosis and response to therapy [7]. Notably, genetic alterations and epigenetic silencing of genes belonging to the MMR machinery are frequent in CRCs, with 15% of cancers in stages I-III being MMR-deficient...
The adult endocrinologist may be asked to consult on a patient for unexplained biochemical disturbances that could be caused by an underlying inborn error of metabolism. A genetic disorder is generally less likely to be the cause as these disorders are individually rare, however inborn errors of me...