MSH3-related adenomatous polyposis in a patient with the negative family history of colorectal polyps

Te Paske, 2020, Candidate gene discovery in hereditary colorectal cancer and polyposis syndromes – considerations for future studies, Int J Mol Sci, 21, 8757, 10.3390/ijms21228757 Grover, 2012, Prevalence and phenotypes of APC and MUTYH mutations in patients with multiple colorectal adenomas, JAMA, 308, 485, 10.1001/jama.2012.8780 Adam, 2016, Exome sequencing identifies biallelic MSH3 germline mutations as a recessive subtype of colorectal adenomatous polyposis, Am J Hum Genet, 99, 337, 10.1016/j.ajhg.2016.06.015 Aelvoet, 2023, A large family with MSH3-related polyposis, Fam Cancer, 22, 49, 10.1007/s10689-022-00297-x Salo-Mullen, 2021, Prevalence and characterization of biallelic and monoallelic NTHL1 and MSH3 variant carriers from a pan-cancer patient population, JCO Precis Oncol, 5 Gornjec, 2019, Cytology material is equivalent to tumor tissue in determining mutations of BRCA 1/2 genes in patients with tubo-ovarian high grade serous carcinoma, BMC Cancer, 19, 296, 10.1186/s12885-019-5535-2 Klančar, 2020, A novel germline MLH1 in-frame deletion in a slovenian lynch syndrome family associated with uncommon isolated PMS2 loss in tumor tissue, Genes (Basel), 11, 325, 10.3390/genes11030325 SEQUENCE Pilot. JSI medical systems. https://www.jsi-medisys.de/products/sequence-pilot/. Plon, 2008, Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results, Hum Mutat, 29, 1282, 10.1002/humu.20880 Richards, 2015, Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology, Genet Med, 17, 405, 10.1038/gim.2015.30 den Dunnen, 2016, HGVS recommendations for the description of sequence variants: 2016 update, Hum Mutat, 37, 564, 10.1002/humu.22981 Guidelines detail. NCCN. https://www.nccn.org/guidelines/guidelines-detail. Singh, 2022, Distichiasis: an update on etiology, treatment and outcomes, Indian J Ophthalmol, 70, 1100, 10.4103/ijo.IJO_1141_21