Commercial release of genetically modified crops in Africa: interface between biosafety regulatory systems and varietal release systems
O Akinbo, S Obukosia, J Ouedraogo… - Frontiers in Plant …, 2021 - frontiersin.org
African countries face key challenges in the deployment of GM crops due to incongruities in
the processes for effective and efficient commercial release while simultaneously ensuring …
the processes for effective and efficient commercial release while simultaneously ensuring …
Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria
K Nykamp, M Anderson, M Powers, J Garcia… - Genetics in …, 2017 - nature.com
Purpose The 2015 American College of Medical Genetics and Genomics–Association for
Molecular Pathology (ACMG–AMP) guidelines were a major step toward establishing a …
Molecular Pathology (ACMG–AMP) guidelines were a major step toward establishing a …
The mechanism of mismatch repair and the functional analysis of mismatch repair defects in Lynch syndrome
JV Martín-López, R Fishel - Familial cancer, 2013 - Springer
The majority of Lynch syndrome (LS), also known as hereditary non-polyposis colorectal
cancer (HNPCC), has been linked to heterozygous defects in DNA mismatch repair (MMR) …
cancer (HNPCC), has been linked to heterozygous defects in DNA mismatch repair (MMR) …
A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects
I Tournier, M Vezain, A Martins, F Charbonnier… - Human …, 2008 - Wiley Online Library
Numerous unclassified variants (UVs) have been found in the mismatch repair genes MLH1
and MSH2 involved in hereditary nonpolyposis colorectal cancer (HNPCC or Lynch …
and MSH2 involved in hereditary nonpolyposis colorectal cancer (HNPCC or Lynch …
Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1
Background & Aims: Germline mutations in mismatch repair genes are associated with
hereditary nonpolyposis colorectal cancer. A significant proportion of mutations are …
hereditary nonpolyposis colorectal cancer. A significant proportion of mutations are …
Functional Analysis of Human MLH1 Variants Using Yeast and In vitro Mismatch Repair Assays
M Takahashi, H Shimodaira, C Andreutti-Zaugg, R Iggo… - Cancer research, 2007 - AACR
The functional characterization of nonsynonymous single nucleotide polymorphisms in
human mismatch repair (MMR) genes has been critical to evaluate their pathogenicity for …
human mismatch repair (MMR) genes has been critical to evaluate their pathogenicity for …
Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer
E Mangold, C Pagenstecher, W Friedl… - … journal of cancer, 2005 - Wiley Online Library
Mutations in DNA MMR genes, mainly MSH2 and MLH1, account for the majority of HNPCC,
an autosomal dominant predisposition to colorectal cancer and other malignancies. The …
an autosomal dominant predisposition to colorectal cancer and other malignancies. The …
A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report …
BA Thompson, DE Goldgar, C Paterson… - Human …, 2013 - Wiley Online Library
Mismatch repair (MMR) gene sequence variants of uncertain clinical significance are often
identified in suspected L ynch syndrome families, and this constitutes a challenge for both …
identified in suspected L ynch syndrome families, and this constitutes a challenge for both …
Mismatch repair polymorphisms and risk of colon cancer, tumour microsatellite instability and interactions with lifestyle factors
Background: Germline mutations in DNA mismatch repair (MMR) genes cause Lynch
syndrome colon cancers. Less understood is the risk of colon cancer associated with …
syndrome colon cancers. Less understood is the risk of colon cancer associated with …
Pathological assessment of mismatch repair gene variants in Lynch syndrome: past, present, and future
LJ Rasmussen, CD Heinen, B Royer‐Pokora… - Human …, 2012 - Wiley Online Library
Lynch syndrome (LS) is caused by germline mutations in DNA mismatch repair (MMR)
genes and is the most prevalent hereditary colorectal cancer syndrome. A significant …
genes and is the most prevalent hereditary colorectal cancer syndrome. A significant …