Familial colorectal cancer and tooth agenesis caused by an AXIN2 variant: how do we detect families with rare cancer predisposition syndromes?

2021 ◽  
Author(s):  
Janni M. Jensen ◽  
Anne Skakkebæk ◽  
Mette Gaustadness ◽  
Mette Sommerlund ◽  
Hans Gjørup ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Cancer Predisposition ◽  
Tooth Agenesis ◽  
Rare Cancer ◽  
Familial Colorectal Cancer

scholarly journals Evaluation of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1genes in familial colorectal cancer predisposition

BMC Cancer ◽  
2006 ◽  
Vol 6 (1) ◽  
Author(s):  
Peter Broderick ◽  
Tina Bagratuni ◽  
Jairam Vijayakrishnan ◽  
Steven Lubbe ◽  
Ian Chandler ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Cancer Predisposition ◽  
Familial Colorectal Cancer

scholarly journals Familial colorectal cancer risk by subsite of primary cancer: a population-based study in Utah

2015 ◽  
Vol 41 (6) ◽  
pp. 573-580 ◽  
Author(s):  
N. J. Samadder ◽  
K. R. Smith ◽  
G. P. Mineau ◽  
R. Pimentel ◽  
J. Wong ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Cancer Risk ◽  
Population Based ◽  
Colorectal Cancer Risk ◽  
Primary Cancer ◽  
Familial Colorectal Cancer ◽  
Population Based Study

scholarly journals Familial colorectal cancer

2015 ◽  
Vol 45 (5) ◽  
pp. 482-491 ◽  
Author(s):  
M. S. Lung ◽  
A. H. Trainer ◽  
I. Campbell ◽  
L. Lipton
Keyword(s):  
Colorectal Cancer ◽  
Familial Colorectal Cancer

scholarly journals A pooled analysis of the outcome of prospective colonoscopic surveillance for familial colorectal cancer

2013 ◽  
Vol 134 (4) ◽  
pp. 939-947 ◽  
Author(s):  
David Mesher ◽  
Isis Dove-Edwin ◽  
Peter Sasieni ◽  
Hans Vasen ◽  
Inge Bernstein ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Pooled Analysis ◽  
Familial Colorectal Cancer ◽  
Colonoscopic Surveillance

scholarly journals Detection of new regulatory SNPs associated with colorectal cancer predisposition

2016 ◽  
Vol 20 (6) ◽  
pp. 797-803
Author(s):  
E. Yu. Leberfarb ◽  
L. O. Bryzgalov ◽  
I. I. Brusentsov ◽  
T. I. Merkulova
Keyword(s):  
Colorectal Cancer ◽  
Cancer Predisposition ◽  
Regulatory Snps

scholarly journals Expanding cancer predisposition genes with ultra-rare cancer-exclusive human variations

2020 ◽  
Author(s):  
Roni Rasnic ◽  
Nathan Linial ◽  
Michal Linial
Keyword(s):  
Genetic Predisposition ◽  
Rare Variants ◽  
Genetic Alterations ◽  
Cancer Predisposition ◽  
Rare Cancer ◽  
Uk Biobank ◽  
Independent Evidence ◽  
High Penetrance ◽  
Predisposition Genes ◽  
The Uk

AbstractIt is estimated that up to 10% of cancer incidents are attributed to inherited genetic alterations. Despite extensive research, there are still gaps in our understanding of genetic predisposition to cancer. It was theorized that ultra-rare variants partially account for the missing heritable component. We harness the UK BioBank dataset of ∼500,000 individuals, 14% of which were diagnosed with cancer, to detect ultra-rare, possibly high-penetrance cancer predisposition variants. We report on 115 cancer-exclusive ultra-rare variations (CUVs) and nominate 26 variants with additional independent evidence as cancer predisposition variants. We conclude that population cohorts are valuable source for expanding the collection of novel cancer predisposition genes.

AXIN2, Tooth Agenesis, and Colorectal Cancer

2016 ◽  
pp. 331-334
Author(s):  
Pekka Nieminen ◽  
Laura Lammi ◽  
Heikki J. Järvinen
Keyword(s):  
Colorectal Cancer ◽  
Tooth Agenesis

Congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial colorectal cancer

2006 ◽  
Vol 5 (4) ◽  
pp. 397-404 ◽  
Author(s):  
Celia S. Chen ◽  
Kerry D. Phillips ◽  
Scott Grist ◽  
Graeme Bennet ◽  
Jamie E. Craig ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Retinal Pigment Epithelium ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Familial Colorectal Cancer ◽  
Congenital Hypertrophy
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