Making sense of missense in Lynch syndrome: The clinical perspective

Henry T. Lynch; Thomas Jascur; Stephen Lanspa; C. Richard Boland

doi:10.1158/1940-6207.CAPR-10-0204

Making sense of missense in Lynch syndrome: The clinical perspective

Henry T. Lynch, Thomas Jascur, Stephen Lanspa, C. Richard Boland

Research output: Contribution to journal › Review article › peer-review

6 Scopus citations

Abstract

The DNA mismatch repair (MMR) system provides critical genetic housekeeping, and its failure is associated with tumorigenesis. Through distinct domains on the DNA MMR proteins, the system recognizes and repairs errors occurring during DNA synthesis, but signals apoptosis when the DNA damage cannot be repaired. Certain missense mutations in the MMR genes can selectively alter just one of these functions. This affects the clinical features of tumors associated with defective DNA MMR activity. New work reported by Xie et al. in this issue of the journal (beginning on page 1409) adds to the understanding of DNA MMR.

Original language	English (US)
Pages (from-to)	1371-1374
Number of pages	4
Journal	Cancer Prevention Research
Volume	3
Issue number	11
DOIs	https://doi.org/10.1158/1940-6207.CAPR-10-0204
State	Published - Nov 2010

All Science Journal Classification (ASJC) codes

Oncology
Cancer Research

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abstract = "The DNA mismatch repair (MMR) system provides critical genetic housekeeping, and its failure is associated with tumorigenesis. Through distinct domains on the DNA MMR proteins, the system recognizes and repairs errors occurring during DNA synthesis, but signals apoptosis when the DNA damage cannot be repaired. Certain missense mutations in the MMR genes can selectively alter just one of these functions. This affects the clinical features of tumors associated with defective DNA MMR activity. New work reported by Xie et al. in this issue of the journal (beginning on page 1409) adds to the understanding of DNA MMR.",

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AU - Jascur, Thomas

AU - Lanspa, Stephen

AU - Boland, C. Richard

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N2 - The DNA mismatch repair (MMR) system provides critical genetic housekeeping, and its failure is associated with tumorigenesis. Through distinct domains on the DNA MMR proteins, the system recognizes and repairs errors occurring during DNA synthesis, but signals apoptosis when the DNA damage cannot be repaired. Certain missense mutations in the MMR genes can selectively alter just one of these functions. This affects the clinical features of tumors associated with defective DNA MMR activity. New work reported by Xie et al. in this issue of the journal (beginning on page 1409) adds to the understanding of DNA MMR.

AB - The DNA mismatch repair (MMR) system provides critical genetic housekeeping, and its failure is associated with tumorigenesis. Through distinct domains on the DNA MMR proteins, the system recognizes and repairs errors occurring during DNA synthesis, but signals apoptosis when the DNA damage cannot be repaired. Certain missense mutations in the MMR genes can selectively alter just one of these functions. This affects the clinical features of tumors associated with defective DNA MMR activity. New work reported by Xie et al. in this issue of the journal (beginning on page 1409) adds to the understanding of DNA MMR.

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JO - Cancer Prevention Research

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Making sense of missense in Lynch syndrome: The clinical perspective

Abstract

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