Pathogenic germline MCM9 variants are rare in Australian Lynch-like syndrome patients

Liu, Qing, Hesson, Luke B., Nunez, Andrea C., Packham, Deborah, Hawkins, Nicholas J., Ward, Robyn L. and Sloane, Mathew A. (2016) Pathogenic germline MCM9 variants are rare in Australian Lynch-like syndrome patients. Cancer Genetics, 209 11: 497-500. doi:10.1016/j.cancergen.2016.10.001

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Author Liu, Qing
Hesson, Luke B.
Nunez, Andrea C.
Packham, Deborah
Hawkins, Nicholas J.
Ward, Robyn L.
Sloane, Mathew A.
Title Pathogenic germline MCM9 variants are rare in Australian Lynch-like syndrome patients
Formatted title
Pathogenic germline MCM9 variants are rare in Australian Lynch-like syndrome patients
Journal name Cancer Genetics   Check publisher's open access policy
ISSN 2210-7770
2210-7762
Publication date 2016-11-01
Sub-type Article (original research)
DOI 10.1016/j.cancergen.2016.10.001
Open Access Status File (Author Post-print)
Volume 209
Issue 11
Start page 497
End page 500
Total pages 4
Place of publication Philadelphia, PA, United States
Publisher Elsevier
Collection year 2017
Language eng
Formatted abstract
Lynch syndrome is a hereditary cancer syndrome caused by the autosomal dominant inheritance of loss-of-function mutations in DNA mismatch repair (MMR) genes. Approximately one quarter of clinically suspected cases have no identifiable germline mutation in any MMR gene, a condition known as Lynch-like syndrome (LLS). MCM9 was recently identified as the DNA helicase in the mammalian MMR complex and loss of helicase activity results in microsatellite instability. We hypothesized that pathogenic variants in MCM9 may account for LLS. The 5′UTR and coding region of MCM9 were sequenced in germline DNA of 109 Australian patients with LLS and variants were cross-referenced with three population-based databases (dbSNP144, 1000 Genomes, ExAC). The functional effect of variants was assessed in silico with PolyPhen-2, SIFT and CONDEL. Fifteen variants that included six common SNPs and nine variants of unknown significance (VUS) were identified. We conclude that VUS occur in MCM9 in a small proportion of LLS patients and MCM9 mutations are unlikely to explain most LLS cases.
Keyword DNA mismatch repair
Helicase
Lynch syndrome
Lynch-like syndrome
MCM9
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
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