scholarly journals Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer

2015 ◽  
Vol 5 (1) ◽  
Author(s):  
Maria N. Timofeeva ◽  
Ben Kinnersley ◽  
Susan M. Farrington ◽  
Nicola Whiffin ◽  
Claire Palles ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Genetic Architecture ◽  
Sequence Variation ◽  
Coding Sequence

scholarly journals Amino Acid Repeats Cause Extraordinary Coding Sequence Variation in the Social Amoeba Dictyostelium discoideum

PLoS ONE ◽  
2012 ◽  
Vol 7 (9) ◽  
pp. e46150 ◽  
Author(s):  
Clea Scala ◽  
Xiangjun Tian ◽  
Natasha J. Mehdiabadi ◽  
Margaret H. Smith ◽  
Gerda Saxer ◽  
...  
Keyword(s):  
Amino Acid ◽  
Dictyostelium Discoideum ◽  
Sequence Variation ◽  
Social Amoeba ◽  
Coding Sequence ◽  
Amino Acid Repeats ◽  
The Social

scholarly journals Single Nucleotide Polymorphism in SMAD7 and CHI3L1 and Colorectal Cancer Risk

2018 ◽  
Vol 2018 ◽  
pp. 1-23 ◽  
Author(s):  
Amal Ahmed Abd El-Fattah ◽  
Nermin Abdel Hamid Sadik ◽  
Olfat Gamil Shaker ◽  
Amal Mohamed Kamal
Keyword(s):  
Colorectal Cancer ◽  
Genetic Variation ◽  
Sequence Variation ◽  
Regulatory Protein ◽  
Nucleotide Polymorphisms ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
The Third ◽  
Common Cancer ◽  
Cancer Initiation

Colorectal cancer (CRC) is one of the leading cancers throughout the world. It represents the third most common cancer and the fourth in mortality. Most of CRC are sporadic, arise with no known high-penetrant genetic variation and with no previous family history. The etiology of sporadic CRC is considered to be multifactorial and arises from the interaction of genetic variants of low-penetrant genes and environmental risk factors. The most common well-studied genetic variation is single nucleotide polymorphisms (SNPs). SNP arises as a point mutation. If the frequency of the sequence variation reaches 1% or more in the population, it is referred to as polymorphism, but if it is lower than 1%, the allele is typically considered as a mutation. Lots of SNPs have been associated with CRC development and progression, for example, genes of TGF-β1 and CHI3L1 pathways. TGF-β1 is a pleiotropic cytokine with a dual role in cancer development and progression. TGF-β1 mediates its actions through canonical and noncanonical pathways. The most important negative regulatory protein for TGF-β1 activity is termed SMAD7. The production of TGF-βcan be controlled by another protein called YKL-40. YKL-40 is a glycoprotein with an important role in cancer initiation and metastasis. YKL-40 is encoded by the CHI3L1 gene. The aim of the present review is to give a brief introduction of CRC, SNP, and examples of some SNPs that have been documented to be associated with CRC. We also discuss two important signaling pathways TGF-β1 and CHI3L1 that influence the incidence and progression of CRC.

scholarly journals A New Polygenic Model for Nonfamilial Colorectal Cancer Inheritance Based on the Genetic Architecture of the Azoxymethane-Induced Mouse Model

Genetics ◽  
2019 ◽  
Vol 214 (3) ◽  
pp. 691-702
Author(s):  
Anika C. Bissahoyo ◽  
Yuying Xie ◽  
Lynda Yang ◽  
R. Scott Pearsall ◽  
Daekee Lee ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Mouse Model ◽  
Genetic Architecture ◽  
Inbred Strains ◽  
Genome Wide Association ◽  
Polygenic Resistance ◽  
Genetic Studies ◽  
Polygenic Model ◽  
Genome Wide ◽  
Dominant Characteristic

The azoxymethane model of colorectal cancer (CRC) was used to gain insights into the genetic heterogeneity of nonfamilial CRC. We observed significant differences in susceptibility parameters across 40 mouse inbred strains, with 6 new and 18 of 24 previously identified mouse CRC modifier alleles detected using genome-wide association analysis. Tumor incidence varied in F1 as well as intercrosses and backcrosses between resistant and susceptible strains. Analysis of inheritance patterns indicates that resistance to CRC development is inherited as a dominant characteristic genome-wide, and that susceptibility appears to occur in individuals lacking a large-effect, or sufficient numbers of small-effect, polygenic resistance alleles. Our results suggest a new polygenic model for inheritance of nonfamilial CRC, and that genetic studies in humans aimed at identifying individuals with elevated susceptibility should be pursued through the lens of absence of dominant resistance alleles rather than for the presence of susceptibility alleles.

Intron splice acceptor site sequence variation in the hereditary non-polyposis colorectal cancer gene hMSH2

1994 ◽  
Vol 30 (10) ◽  
pp. 1550-1552 ◽  
Author(s):  
N.R. Hall ◽  
G.R. Taylor ◽  
P.J. Finan ◽  
R.D. Kolodner ◽  
W.F. Bodmer ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Sequence Variation ◽  
Splice Acceptor Site ◽  
Acceptor Site ◽  
Cancer Gene ◽  
Splice Acceptor ◽  
Intron Splice

scholarly journals Deciphering the genetic architecture of low-penetrance susceptibility to colorectal cancer

2013 ◽  
Vol 22 (24) ◽  
pp. 5075-5082 ◽  
Author(s):  
Nicola Whiffin ◽  
Sara E. Dobbins ◽  
Fay J. Hosking ◽  
Claire Palles ◽  
Albert Tenesa ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Genetic Architecture

Worldwide haplotype diversity and coding sequence variation at human bitter taste receptor loci

2005 ◽  
Vol 26 (3) ◽  
pp. 199-204 ◽  
Author(s):  
Unkyung Kim ◽  
Stephen Wooding ◽  
Dante Ricci ◽  
Lynn B. Jorde ◽  
Dennis Drayna
Keyword(s):  
Sequence Variation ◽  
Bitter Taste ◽  
Taste Receptor ◽  
Haplotype Diversity ◽  
Bitter Taste Receptor ◽  
Coding Sequence

scholarly journals Functional interpretation of non‐coding sequence variation: Concepts and challenges

BioEssays ◽  
2013 ◽  
Vol 36 (2) ◽  
pp. 191-199 ◽  
Author(s):  
Dirk S. Paul ◽  
Nicole Soranzo ◽  
Stephan Beck
Keyword(s):  
Sequence Variation ◽  
Functional Interpretation ◽  
Coding Sequence

Sub-Saharan African coding sequence variation and haplotype diversity at theNAT2gene

2006 ◽  
Vol 27 (7) ◽  
pp. 720-720 ◽  
Author(s):  
Etienne Patin ◽  
Christine Harmant ◽  
Ken K. Kidd ◽  
Judith Kidd ◽  
Alain Froment ◽  
...  
Keyword(s):  
Sequence Variation ◽  
Haplotype Diversity ◽  
Coding Sequence ◽  
Sub Saharan
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