Associated Papers
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
Walker LC et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
36865205 (PubMed )
Supplement: media-8.xlsx › Table_S12
Classification of MSH6 Variants of Uncertain Significance Using Functional Assays.
Frederiksen JH et al.
International Journal of Molecular Sciences, 2021
Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.
Thompson BA et al.
Frontiers in Genetics, 2020
32849802 (PubMed )
Supplement: Data_Sheet_1.xlsx › Supplementary_Table_3
Incomplete Segregation of MSH6 Frameshift Variants with Phenotype of Lynch Syndrome.
Liccardo R et al.
International Journal of Molecular Sciences, 2017
Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.
Ashktorab H et al.
Oncotarget, 2017
28002797 (PubMed )
Supplement: oncotarget-08-7852-s002.xlsx › MSH6.Ion
A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry.
Thompson BA et al.
Human Mutation, 2013
Association of rare MSH6 variants with familial breast cancer.
Wasielewski M et al.
Breast Cancer Research and Treatment, 2010
A new strategy to screen MMR genes in Lynch Syndrome: HA-CAE, MLPA and RT-PCR.
Perez-Cabornero L et al.
European Journal of Cancer (oxford, England : 1990), 2009
Low prevalence of germline hMSH6 mutations in colorectal cancer families from Spain.
Sánchez de Abajo A et al.
World Journal of Gastroenterology, 2005
Rapid recognition of aberrant dHPLC elution profiles using the Transgenomic Navigator software.
Colley J et al.
Human Mutation, 2005
Germ-line msh6 mutations in colorectal cancer families.
Kolodner RD et al.
Cancer Research, 1999
Select a paper to view details