TY - JOUR
T1 - A review on the molecular diagnostics of Lynch syndrome
T2 - A central role for the pathology laboratory
AU - van Lier, Margot G.F.
AU - Wagner, Anja
AU - van Leerdam, Monique E.
AU - Biermann, Katharina
AU - Kuipers, Ernst J.
AU - Steyerberg, Ewout W.
AU - Dubbink, Hendrikus Jan
AU - Dinjens, Winand N.M.
PY - 2010/1
Y1 - 2010/1
N2 - Lynch syndrome (LS) is caused by mutations in mismatch repair genes and is characterized by a high cumulative risk for the development of mainly colorectal carcinoma and endometrial carcinoma. Early detection of LS is important since surveillance can reduce morbidity and mortality. However, the diagnosis of LS is complicated by the absence of a pre-morbid phenotype and germline mutation analysis is expensive and time consuming. Therefore it is standard practice to precede germline mutation analysis by a molecular diagnostic work-up of tumours, guided by clinical and pathological criteria, to select patients for germline mutation analysis. In this review we address these molecular analyses, the central role for the pathologist in the selection of patients for germline diagnostics of LS, as well as the molecular basis of LS.
AB - Lynch syndrome (LS) is caused by mutations in mismatch repair genes and is characterized by a high cumulative risk for the development of mainly colorectal carcinoma and endometrial carcinoma. Early detection of LS is important since surveillance can reduce morbidity and mortality. However, the diagnosis of LS is complicated by the absence of a pre-morbid phenotype and germline mutation analysis is expensive and time consuming. Therefore it is standard practice to precede germline mutation analysis by a molecular diagnostic work-up of tumours, guided by clinical and pathological criteria, to select patients for germline mutation analysis. In this review we address these molecular analyses, the central role for the pathologist in the selection of patients for germline diagnostics of LS, as well as the molecular basis of LS.
KW - BRAF mutation analysis
KW - Immunohistochemistry
KW - Lynch syndrome
KW - Mismatch repair genes
KW - MLH1 promoter methylation assay
KW - Molecular pathology
KW - MSI analysis
KW - Review
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U2 - 10.1111/j.1582-4934.2009.00977.x
DO - 10.1111/j.1582-4934.2009.00977.x
M3 - Review article
C2 - 19929944
AN - SCOPUS:77951970005
SN - 1582-1838
VL - 14
SP - 181
EP - 197
JO - Journal of Cellular and Molecular Medicine
JF - Journal of Cellular and Molecular Medicine
IS - 1-2
ER -