TY - JOUR
T1 - Mutation of a mutL homolog in hereditary colon cancer
AU - Papadopoulos, Nickolas
AU - Nicolaides, Nicholas C.
AU - Wei, Ying Fei
AU - Ruben, Steven M.
AU - Carter, Kenneth C.
AU - Rosen, Craig A.
AU - Haseltine, William A.
AU - Fleischmann, Robert D.
AU - Fraser, Claire M.
AU - Adams, Mark D.
AU - Venter, J. Craig
AU - Hamilton, Stanley R.
AU - Petersen, Gloria M.
AU - Watson, Patrice
AU - Lynch, Henry T.
AU - Peltomäki, Päivi
AU - Mecklin, Jukka Pekka
AU - De La Chapelle, Albert
AU - Kinzler, Kenneth W.
AU - Vogelstein, Bert
PY - 1994
Y1 - 1994
N2 - Some cases of hereditary nonpolyposis colorectal cancer (HNPCC) are due to alterations in a mutS-related mismatch repair gene. A search of a large database of expressed sequence tags derived from random complementary DNA clones revealed three additional human mismatch repair genes, all related to the bacterial mutL gene. One of these genes (hMLH1) resides on chromosome 3p21, within 1 centimorgan of markers previously linked to cancer susceptibility in HNPCC kindreds. Mutations of hMLH1 that would disrupt the gene product were identified in such kindreds, demonstrating that this gene is responsible for the disease. These results suggest that defects in any of several mismatch repair genes can cause HNPCC.
AB - Some cases of hereditary nonpolyposis colorectal cancer (HNPCC) are due to alterations in a mutS-related mismatch repair gene. A search of a large database of expressed sequence tags derived from random complementary DNA clones revealed three additional human mismatch repair genes, all related to the bacterial mutL gene. One of these genes (hMLH1) resides on chromosome 3p21, within 1 centimorgan of markers previously linked to cancer susceptibility in HNPCC kindreds. Mutations of hMLH1 that would disrupt the gene product were identified in such kindreds, demonstrating that this gene is responsible for the disease. These results suggest that defects in any of several mismatch repair genes can cause HNPCC.
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U2 - 10.1126/science.8128251
DO - 10.1126/science.8128251
M3 - Article
C2 - 8128251
AN - SCOPUS:0028350601
SN - 0036-8075
VL - 263
SP - 1625
EP - 1629
JO - Science
JF - Science
IS - 5153
ER -