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 28 May 2018

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News

Validation of colorectal cancer susceptibility gene variants

This month's issue of Gastroenterology validates a recently proposed colorectal cancer susceptibility gene variants in an analysis of families and patients.

News image

High-throughput sequencing analysis has accelerated searches for genes associated with risk for colorectal cancer.

Germline mutations in NTHL1, RPS20, FANCM, FAN1, TP53, BUB1, BUB3, LRP6, and PTPN12 have been recently proposed to increase colorectal cancer risk.

Dr Richard Houlston and colleagues from the United Kingdom validated the association between variants in these genes and development of colorectal cancer.

The team performed a systematic review of 11 publications, using sequence data from 863 familial colorectal cancer cases, and 1604 individuals without colorectal cancer.

All cases were diagnosed at an age of 55 years or younger and did not carry mutations in an established colorectal cancer predisposition gene.

There is sufficient evidence for NTHL1 to be considered a colorectal cancer predisposition gene
Gastroenterology

The researchers found sufficient evidence for NTHL1 to be considered a colorectal cancer predisposition gene—members of 3 unrelated Dutch families who were homozygous for inactivating p.Gln90Ter mutations.

The research team identified a Canadian woman with polyposis, colorectal cancer, and multiple tumors that was reported to be heterozygous for the inactivating NTHL1 p.Gln90Ter/c.709+1G>A mutations.

The team also identified a man with polyposis reported to carry p.Gln90Ter/p.Gln287Ter.

The researchers detected no inactivating homozygous or compound heterozygous mutations in controls.

Variants that disrupted RPS20 were detected in a Finnish family with early-onset colorectal cancer, a 39-year old individual with metachronous colorectal cancer, and a 41-year-old individual with colorectal cancer, but not in controls.

The research team found published evidence to support the association between variants in NTHL1 and RPS20 with colorectal cancer, but not of other recently reported colorectal cancer susceptibility variants.

Dr Houlston's team comments, "We urge the research community to adopt rigorous statistical and biological approaches coupled with independent replication before making claims of pathogenicity."

Gastroenterol 2017: 152(1): 75–77.e4
06 January 2017

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