Heterozygous colon cancer-associated mutations of SAMHD1 have functional significance.

Matilda Rentoft,Kristoffer Lindell,Phong Tran,Anna Lena Chabes,Robert J. Buckland,Danielle L. Watt,Lisette Marjavaara,Anna Karin Nilsson,Beatrice Melin,Johan Trygg,Erik Johansson,Andrei Chabes

Heterozygous colon cancer-associated mutations of SAMHD1 have functional significance.

2016

Matilda Rentoft
Kristoffer Lindell
Phong Tran
Anna Lena Chabes
Robert J. Buckland
Danielle L. Watt
Lisette Marjavaara
Anna Karin Nilsson
Beatrice Melin
Johan Trygg
Erik Johansson
Andrei Chabes

Even small variations in dNTP concentrations decrease DNA replication fidelity, and this observation prompted us to analyze genomic cancer data for mutations in enzymes involved in dNTP metabolism. ...

Keywords:

DNA replication
SAMHD1
Heterozygote advantage
Enzyme
Metabolism
Colorectal cancer
Cancer
Genetics
Mutation
Biology
DNA mismatch repair
Mutation rate
Molecular biology
Allele
Deoxyribonucleoside triphosphate
Sterile alpha motif

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