Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.G382D
Back to variants list

PMS2

NM_000535.7:p.G382D

Associated Papers

Potential pathogenic germline variant reporting from tumor comprehensive genomic profiling complements classic approaches to germline testing.

Tung N et al.

Npj Precision Oncology, 2023

Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.

Zhang L et al.

Journal of Medical Genetics, 2022

34172528 (PubMed )
Supplement: jmedgenet-2021-107886supp006.xlsx › MSH2

The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial disease.

Woods MO et al.

Gut, 2010

Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study.

Cleary SP et al.

Gastroenterology, 2009

MUTYH exon 7 and 13 mutations associated with colorectal cancer (MAP syndrome) are not commonly associated with sporadic pancreatic cancer.

Smith LM et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2009

Identification of patients with (atypical) MUTYH-associated polyposis by KRAS2 c.34G > T prescreening followed by MUTYH hotspot analysis in formalin-fixed paraffin-embedded tissue.

van Puijenbroek M et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2008

The value of MUTYH testing in patients with early onset microsatellite stable colorectal cancer referred for hereditary nonpolyposis colon cancer syndrome testing.

Riegert-Johnson DL et al.

Genetic Testing, 2007

Increased frequency of disease-causing MYH mutations in colon cancer families.

Peterlongo P et al.

Carcinogenesis, 2006

Microsatellite stable colorectal cancers in clinically suspected hereditary nonpolyposis colorectal cancer patients without vertical transmission of disease are unlikely to be caused by biallelic germline mutations in MYH.

Görgens H et al.

The Journal of Molecular Diagnostics : Jmd, 2006

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."