The analysis of a large Danish family supports the presence of a susceptibility locus for adenoma and colorectal cancer on chromosome 11q24

Familial Cancer
Laura Aviaja RudkjøbingMarie Luise Bisgaard

Abstract

Hereditary colorectal cancer accounts for approximately 30% of all colorectal cancers, but currently only 5% of these families can be explained by highly penetrant, inherited mutations. In the remaining 25% it is not possible to perform a gene test to identify the family members who would benefit from prophylactic screening. Consequently, all family members are asked to follow a screening program. The purpose of this study was to localize a new gene which causes colorectal cancer. We performed a linkage analysis using data from a SNP6.0 chip in one large family with 12 affected family members. We extended the linkage analysis with microsatellites (STS) and single nucleotide polymorphisms (SNP's) and looked for the loss of heterozygosity in tumour tissue. Furthermore, we performed the exome sequencing of one family member and we sequenced candidate genes by use of direct sequencing. Major rearrangements were excluded after karyotyping. The linkage analysis with SNP6 data revealed three candidate areas, on chromosome 2, 6 and 11 respectively, with a LOD score close to two and no negative LOD scores. After extended linkage analysis, the area on chromosome 6 was excluded, leaving areas on chromosome 2 and chromosome 11 with the hig...Continue Reading

References

Jul 1, 1994·Human Heredity·A A SchäfferR W Cottingham
Apr 21, 1993·Journal of the National Cancer Institute·F J WardleS Campbell
Jan 23, 1997·Biochemical and Biophysical Research Communications·C DerstH W Seyberth
May 21, 1998·The New England Journal of Medicine·L A AaltonenA de la Chapelle
Aug 23, 2000·British Journal of Cancer·A S LeeJ O McGee
Nov 6, 2001·The American Journal of Gastroenterology·L E Johns, R S Houlston
Feb 1, 2003·Health Psychology : Official Journal of the Division of Health Psychology, American Psychological Association·Jane WardleWendy Atkin
Mar 7, 2003·The New England Journal of Medicine·Henry T Lynch, Albert de la Chapelle
Apr 28, 2005·JAMA : the Journal of the American Medical Association·Noralane M LindorDaniela Seminara
Oct 19, 2006·Health and Quality of Life Outcomes·Doug TaupinBruce Shadbolt
Mar 1, 2007·Journal of Medical Genetics·H F A VasenJ Wijnen
Aug 30, 2008·Human Molecular Genetics·Alan M PittmanRichard S Houlston
Jan 19, 2010·Bioinformatics·Heng Li, Richard Durbin
Apr 28, 2010·Gastroenterology·Kory W JaspersonRandall W Burt
Feb 2, 2012·Mutagenesis·Richard S Houlston, UNKNOWN members of COGENT
Jan 22, 2013·CA: a Cancer Journal for Clinicians·Rebecca SiegelAhmedin Jemal

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Citations

Oct 8, 2016·Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association·Laura Valle
Apr 22, 2021·International Journal of Qualitative Studies on Health and Well-being·Heli TiirolaLiisa Pylkkänen
May 29, 2021·Molecular Biology Reports·Ying Zhang, Caiyan Wang

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