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2. Compound heterozygous MSH3 germline variants and associated tumor somatic DNA mismatch repair dysfunction

Author

Koi, Minoru, Leach, Brandie H, McGee, Sarah, Tseng-Rogenski, Stephanie S, Burke, Carol A, and Carethers, John M

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Immunology, Genetics, Cancer, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Generic health relevance, Oncology and carcinogenesis
Abstract

We describe here an individual from a fourth family with germline compound heterozygous MSH3 germline variants and its observed biological consequences. The patient was initially diagnosed with invasive moderately-differentiated adenocarcinoma of the colon at the age of 43. Germline multigene panel testing revealed a pathogenic variant MSH3 c.2436-1 G > A and a variant of (initial) uncertain significance MSH3 c.3265 A > T (p.Lys1089*). Germline genetic testing of family members confirm the variants are in trans with the c.2436-1 G > A variant of paternal and the c.3265 A > T variant of maternal origin. Tumor DNA exhibits low levels of microsatellite instability and elevated microsatellite alterations at selected tetranucleotide repeats (EMAST). Tissue immunohistochemical staining for MSH3 demonstrated variant MSH3 protein is present in the cytoplasm and cell membrane but not in the nucleus of normal and tumor epithelial cells. Furthermore, variant MSH3 is accompanied by loss of nuclear MSH6 and a reduced level of nuclear MSH2 in some tumor cells, suggesting that the variant MSH3 protein may inhibit binding of MSH6 to MSH2.

Published
2024

37. Delphi Initiative for Early-Onset Colorectal Cancer (DIRECt) International Management Guidelines

Author

Cavestro, Giulia Martina, Mannucci, Alessandro, Balaguer, Francesc, Hampel, Heather, Kupfer, Sonia S., Repici, Alessandro, Sartore-Bianchi, Andrea, Seppälä, Toni T., Valentini, Vincenzo, Boland, Clement Richard, Brand, Randall E., Buffart, Tineke E., Burke, Carol A., Caccialanza, Riccardo, Cannizzaro, Renato, Cascinu, Stefano, Cercek, Andrea, Crosbie, Emma J., Danese, Silvio, Dekker, Evelien, Daca-Alvarez, Maria, Deni, Francesco, Dominguez-Valentin, Mev, Eng, Cathy, Goel, Ajay, Guillem, Josè G., Houwen, Britt B.S.L., Kahi, Charles, Kalady, Matthew F., Kastrinos, Fay, Kühn, Florian, Laghi, Luigi, Latchford, Andrew, Liska, David, Lynch, Patrick, Malesci, Alberto, Mauri, Gianluca, Meldolesi, Elisa, Møller, Pål, Monahan, Kevin J., Möslein, Gabriela, Murphy, Caitlin C., Nass, Karlijn, Ng, Kimmie, Oliani, Cristina, Papaleo, Enrico, Patel, Swati G., Puzzono, Marta, Remo, Andrea, Ricciardiello, Luigi, Ripamonti, Carla Ida, Siena, Salvatore, Singh, Satish K., Stadler, Zsofia K., Stanich, Peter P., Syngal, Sapna, Turi, Stefano, Urso, Emanuele Damiano, Valle, Laura, Vanni, Valeria Stella, Vilar, Eduardo, Vitellaro, Marco, You, Yi-Qian Nancy, Yurgelun, Matthew B., Zuppardo, Raffaella Alessia, and Stoffel, Elena M.

Published
2023
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