scholarly journals MUTYH Gene

2020 ◽  
Author(s):  
Keyword(s):  
Mutyh Gene

Common Genetic Variants of MUTYH are not Associated with Cutaneous Malignant Melanoma: Application of Molecular Screening by Means of High-Resolution Melting Technique in a Pilot Case-Control Study

2011 ◽  
Vol 26 (1) ◽  
pp. 37-42 ◽  
Author(s):  
Concetta Santonocito ◽  
Andrea Paradisi ◽  
Rodolfo Capizzi ◽  
Eleonora Torti ◽  
Sara Lanza-Silveri ◽  
...  
Keyword(s):  
High Resolution ◽  
High Resolution Melting ◽  
Direct Sequencing ◽  
Strong Association ◽  
Laboratory Data ◽  
Gene Mutations ◽  
Case Control ◽  
Common Genetic Variants ◽  
Mutyh Gene ◽  
Embryonic Origin

MUTYH glycosylase recognizes the 8-oxoG:A mismatch and is able to excise the adenine base using proofreading mechanisms. Some papers have reported a strong association between cancer development or aggressiveness and MUTYH gene mutations. The aim of this study was to find a possible association between the most frequent MUTYH mutations and melanoma in the context of a case-control pilot study. One hundred ninety-five melanoma patients and 195 healthy controls were matched for sex and age. Clinical and laboratory data were collected in a specific database and all individuals were analyzed for MUTYH mutations by high-resolution melting and direct sequencing techniques. Men and women had significantly different distributions of tumor sites and phototypes. No significant associations were observed between the Y165C, G382D and V479F MUTYH mutations and risk of melanoma development or aggressiveness. Our preliminary findings therefore do not confirm a role for MUTYH gene mutations in the melanoma risk. Further studies are necessary for the assessment of MUTYH not only in melanoma but also other cancer types with the same embryonic origin, in the context of larger arrays studies of genes involved in DNA stability or integrity.

scholarly journals Polymorphism and protein expression of MUTYH gene for risk of rheumatoid arthritis

2017 ◽  
Vol 18 (1) ◽  
Author(s):  
Shih-Yin Chen ◽  
Hsin-Han Chen ◽  
Yu-Chuen Huang ◽  
Shih-Ping Liu ◽  
Ying-Ju Lin ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Protein Expression ◽  
Mutyh Gene

Implications of generating genetic test results for colon cancer in the international, population-based colon cancer family registry.

2012 ◽  
Vol 30 (15_suppl) ◽  
pp. 3567-3567
Author(s):  
Louise A. Keogh ◽  
Douglass Fisher ◽  
Sherri Sheinfeld Gorin ◽  
Sheri D Schully ◽  
Jan Lowery ◽  
...  
Keyword(s):  
Colon Cancer ◽  
Genetic Test ◽  
Germline Mutations ◽  
Population Based ◽  
Test Results ◽  
Cancer Family ◽  
Genetic Test Results ◽  
Mutyh Gene ◽  
The Us ◽  
Colon Cancer Family Registry

3567 Background: The ability to genotype large numbers of people rapidly and inexpensively for research purposes highlights the need to develop guidelines for providing medically-relevant research results - including unanticipated findings - to study participants. The Colon Cancer Family Registry (C-CFR) is the oldest and largest international colon cancer population-based registry; its experience managing genetic research findings can offer guidance to clinicians and researchers. The C-CFR has enrolled 10,019 cases with colon cancer and 24,708 family members in six registries in the US, Canada, Australia, and New Zealand. Deleterious (“high risk”) germline mutations have been identified in DNA mismatch repair (MMR) genes (MLH1, MSH2, MSH6, PMS2) and the MutYH gene. The aims of this presentation are to: (1) report the uptake of genetic test results by C-CFR participants; (2) systematically compare disclosure protocols and barriers to uptake by registry; (3) make recommendations to guide clinicians and researchers. Methods: Uptake of genetic test results was calculated from data collected by the C-CFR; key investigators (KIs) from each registry completed a survey about disclosure decision-making; KIs also took part in discussions to generate recommendations. Results: Registry-wide molecular testing has identified deleterious MMR germline mutations for at least one member of 424 families (4%) and 48 biallelic MutYH gene carriers. Uptake of test results ranged from 56-86% (n= 1542) across registries. Barriers to disclosure include: (1) lack of pre-existing notification protocols; (2) logistics of re-consent; (3) limited involvement of genetic counselors at some registries; (4) in the US, the requirement that genetic testing be performed in a CLIA approved laboratory; (5) IRBs declining approval; and (6) budget constraints. Conclusions: Based on our international registry’s findings we recommend that researchers generating genetic information establish plans for disclosure at the outset; obtain subject consent a priori; consider subject knowledge and disclosure preferences; provide guidance and budget for clinical follow-up; and involve genetic counselors.

scholarly journals High resolution melting analysis for a rapid identification of heterozygous and homozygous sequence changes in the MUTYH gene

BMC Cancer ◽  
2011 ◽  
Vol 11 (1) ◽  
Author(s):  
Rossella Tricarico ◽  
Francesca Crucianelli ◽  
Antonio Alvau ◽  
Claudio Orlando ◽  
Roberta Sestini ◽  
...  
Keyword(s):  
High Resolution ◽  
High Resolution Melting ◽  
Rapid Identification ◽  
High Resolution Melting Analysis ◽  
Mutyh Gene ◽  
Melting Analysis

An association selected polymorphisms of XRCC1, OGG1 and MUTYH gene and the level of efficiency oxidative DNA damage repair with a risk of colorectal cancer

2013 ◽  
Vol 745-746 ◽  
pp. 6-15 ◽  
Author(s):  
Karolina Przybylowska ◽  
Jacek Kabzinski ◽  
Andrzej Sygut ◽  
Lukasz Dziki ◽  
Adam Dziki ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Dna Damage ◽  
Oxidative Dna Damage ◽  
Dna Damage Repair ◽  
Damage Repair ◽  
Mutyh Gene

scholarly journals Leiden open variation database of the MUTYH gene

2010 ◽  
Vol 31 (11) ◽  
pp. 1205-1215 ◽  
Author(s):  
Astrid A. Out ◽  
Carli M.J. Tops ◽  
Maartje Nielsen ◽  
Marjan M. Weiss ◽  
Ivonne J.H.M. van Minderhout ◽  
...  
Keyword(s):  
Mutyh Gene ◽  
Variation Database

MUTYH gene mutations in Spanish individuals with multiple colorectal adenomas without APC gene mutation.

2010 ◽  
Vol 28 (15_suppl) ◽  
pp. 1540-1540
Author(s):  
A. I. Ferrer ◽  
M. Strunk ◽  
R. Andres ◽  
A. Ferrandez ◽  
A. Alonso ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Gene Mutations ◽  
Apc Gene ◽  
Colorectal Adenomas ◽  
Mutyh Gene

Contribution of common monoallelic MUTYH gene variants in German patients with familial colorectal cancer

2008 ◽  
Vol 4 (2) ◽  
pp. 55-61 ◽  
Author(s):  
Frank Grünhage ◽  
Matthias Jungck ◽  
Christof Lamberti ◽  
Hildegard Schulte-Witte ◽  
Dominik Plassmann ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Gene Variants ◽  
Familial Colorectal Cancer ◽  
Mutyh Gene

The Thorough Screening of the MUTYH Gene in a Large French Cohort of Sporadic Colorectal Cancers

2007 ◽  
Vol 11 (4) ◽  
pp. 373-380 ◽  
Author(s):  
Sébastien Küry ◽  
Bruno Buecher ◽  
Sébastien Robiou-Du-Pont ◽  
Catherine Scoul ◽  
Hélène Colman ◽  
...  
Keyword(s):  
Colorectal Cancers ◽  
Mutyh Gene ◽  
French Cohort
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