Mismatch repair defects and Lynch syndrome: The role of the basic scientist in the battle against cancer
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- 作者：Christopher D. Heinen ; cheinen@uchc.edu" class="auth_mail" title="E-mail the corresponding author
- 关键词：LS ; Lynch syndrome ; CRC ; colorectal cancer ; HNPCC ; hereditary non-polyposis colon cancer ; MMR ; mismatch repair ; FAP ; familial adenomatous polyposis ; CFS ; cancer family syndrome ; MSI ; microsatellite instability ; IDL ; insertion/deletion loop ; MSH2 ; human mutS homolog 2 ; MLH1 ; human mutL homolog 1 ; MSH6 ; human mutS homolog 6 ; PMS2 ; post meiotic segregation increased 2 ; IHC ; immunohistochemistry ; VUS ; variants of uncertain significance ; MNNG ; N-methyl-N&rsquo ; -nitro-N-nitrosoguanidine ; MeG ; O6-methy
- 刊名：DNA Repair
- 出版年：2016
- 出版时间：February 2016
- 年：2016
- 卷：38
- 期：Complete
- 页码：127-134
- 全文大小：356 K
文摘
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The history of LS and its association with MMR is discussed.
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Basic science research has greatly informed the clinical management of LS.
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Diagnosis has been aided by understanding the molecular biology of faulty MMR.
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Laboratory studies have also offered clues about tumor response to therapy.
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Strong basic science research will drive the success of precision medicine efforts.