Functional and phenotypic consequences of an unusual inversion in MSH2

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doi:10.1007/s10689-023-00350-3

Functional and phenotypic consequences of an unusual inversion in MSH2

Dylan Pelletier & William D. Foulkes et al. · 2023-11-14

Links

DOI PubMed

Journal

Familial Cancer

TL;DR

An unusual, small germline inversion in a mismatch repair gene that does not lead to a premature stop codon yet appears likely to be causal for the observed cancers is identified.

AI-generated by Semantic Scholar

Authors

Dylan Pelletier, Abhijit Rath, Nelly Sabbaghian, Manuela Pelmus, Catherine Hudon, Karine Jacob, Leora Witowski, Avi Saskin, Christopher D. Heinen, William D. Foulkes

Funding

Hereditary Cancer Variants of Uncertain Significance in Stem Cells CIHR Grant FDN-148390 Hereditary Cancer Variants of Uncertain Significance in Stem Cells Colorectal Cancer Alliance Grant 998730 Hereditary Cancer Variants of Uncertain Significance in Stem Cells Canadian Institutes of Health Research Grant FDN-148390

NCI NIH HHS

R01 CA222477

NIH HHS

CA222477

National Institutes of Health

CA222477