Prevalence and Characterization of Biallelic and Monoallelic NTHL1 and MSH3 Variant Carriers From a Pan-Cancer Patient Population.

doi:10.1200/PO.20.00443

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Prevalence and Characterization of Biallelic and Monoallelic NTHL1 and MSH3 Variant Carriers From a Pan-Cancer Patient Population.

JCO precision oncology - 1 Jan 2021

Salo-Mullen Erin E, Maio Anna, Mukherjee Semanti, Bandlamudi Chaitanya, Shia Jinru, Kemel Yelena, Cadoo Karen A, Liu Ying, Carlo Maria, Ranganathan Megha, Kane Sarah, Srinivasan Preethi, Chavan Shweta S, Donoghue Mark T A, Bourque Caitlin, Sheehan Margaret, Tejada Prince Rainier, Patel Zalak, Arnold Angela G, Kennedy Jennifer A, Amoroso Kimberly, Breen Kelsey, Catchings Amanda, Sacca Rosalba, Marcell Vanessa, Markowitz Arnold J, Latham Alicia, Walsh Michael, Misyura Maksym, Ceyhan-Birsoy Ozge, Solit David B, Berger Michael F, Robson Mark E, Taylor Barry S, Offit Kenneth, Mandelker Diana, Stadler Zsofia K

Abstract excerpt

NTHL1 and MSH3 have been implicated as autosomal recessive cancer predisposition genes. Although individuals with biallelic NTHL1 and MSH3 pathogenic variants (PVs) have increased cancer and polyposis risk, risks for monoallelic carriers are uncertain. We sought to assess the prevalence and characterize NTHL1 and MSH3 from a large pan-cancer patient population. MATERIALS AND METHODS: Patients with pan-cancer (n =...

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PMID: 34250384
DOI: 10.1200/PO.20.00443
PMCID: PMC8232072

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