TY  - JOUR
T1  - Lynch syndrome in patients with colorectal cancer: Finding the needle in the haystack
AU  - Ladabaum U, Ford JM
Y1  - 2012/10/17
N1  - 10.1001/jama.2012.14171
JO  - JAMA
SP  - 1581
EP  - 1583
VL  - 308
IS  - 15
N2  - 
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.

SN  - 0098-7484
M3  - doi: 10.1001/jama.2012.14171
UR  - http://dx.doi.org/10.1001/jama.2012.14171
ER  -