TY - JOUR
T1 - Small-Pool PCR analysis of microsatellite instability in HNPCC
AU - Coolbaugh-Murphy, Mary
AU - Ramagli, Louis S.
AU - Siciliano, Michael J.
N1 - Funding Information:
MJS has been supported in part by National Cancer Institute (NCI) research grant R01 CA-112588 and a gift from Mr. Kenneth D. Muller. MCM was supported in part by NCI cancer prevention training grant R25 CA57730 (Robert M. Chamberlain, PhD, Principal Investigator).
PY - 2007/10
Y1 - 2007/10
N2 - The contributions and limitations of the traditional method for evaluating microsatellite instability by standard polymerase chain reaction (PCR) in identifying mismatch repair (MMR) gene mutations in the Lynch syndrome form of hereditary nonpolyposis colon cancer (HNPCC) are discussed. A new form of HNPCC (familial colon cancer type X or FCCX), in which deleterious mutations in major MMR genes and microsatellite instability have not been identified, was viewed as possibly having attenuating mutations in MMR genes as its genetic basis. A highly sensitive and quantitative method of microsatellite instability analysis, small-pool PCR, is needed to explore this possibility, and small-pool PCR procedures to address that task must be validated. An algorithm for the use of small-pool PCR to identify patients with FCCX having such attenuating mutations is put forward as a means of detecting single nucleo-tide polymorphisms (SNPs) for the future diagnosis of cancer in those at risk.
AB - The contributions and limitations of the traditional method for evaluating microsatellite instability by standard polymerase chain reaction (PCR) in identifying mismatch repair (MMR) gene mutations in the Lynch syndrome form of hereditary nonpolyposis colon cancer (HNPCC) are discussed. A new form of HNPCC (familial colon cancer type X or FCCX), in which deleterious mutations in major MMR genes and microsatellite instability have not been identified, was viewed as possibly having attenuating mutations in MMR genes as its genetic basis. A highly sensitive and quantitative method of microsatellite instability analysis, small-pool PCR, is needed to explore this possibility, and small-pool PCR procedures to address that task must be validated. An algorithm for the use of small-pool PCR to identify patients with FCCX having such attenuating mutations is put forward as a means of detecting single nucleo-tide polymorphisms (SNPs) for the future diagnosis of cancer in those at risk.
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U2 - 10.1007/s11888-007-0029-z
DO - 10.1007/s11888-007-0029-z
M3 - Article
AN - SCOPUS:84855410966
SN - 1556-3790
VL - 3
SP - 185
EP - 190
JO - Current Colorectal Cancer Reports
JF - Current Colorectal Cancer Reports
IS - 4
ER -