Lynch syndrome in patients with colorectal cancer: Finding the needle in the haystack
A partir de données de registres portant sur 4 cohortes incluant au total 10 226 patients atteints d'un cancer colorectal nouvellement diagnostiqué, cette étude compare la performance de diverses méthodes d'identification d'un syndrome de Lynch avec celles d'un test reposant sur la recherche de mutations de gènes MMR au sein des cellules tumorales
For one of the most common hereditary cancer syndromes, Lynch syndrome (LS), also known as hereditary nonpolyposis colorectal cancer (HNPCC), various sets of clinical criteria, combined with pathologic phenotypic characteristics of tumor tissues in probands, have been used to identify individuals at risk in whom it is important to consider germline genetic testing for deleterious mutations in 1 of 4 DNA mismatch repair genes (MLH1, MSH2, MSH6, or PMS2). Lynch syndrome was originally defined by the “Amsterdam” clinical criteria as a history of at least 3 family members with histologically confirmed colorectal cancer (CRC) involving 2 generations with at least 1 person diagnosed before age 50 years.1 Although this approach is fairly specific in identifying families with highly penetrant LS, it is also overly restrictive and does not consider the possibility of later-onset variants of the disease, the implications of extracolonic tumors, or the limitations imposed by small family size.
JAMA: The Journal of the American Medical Association , éditorial en libre accès, 2011