Open AccessPrevalence and Characterization of Biallelic and Monoallelic NTHL1 and MSH3 Variant Carriers From a Pan-Cancer Patient Population
Author(s) -
Erin SaloMullen,
Anna Maio,
Semanti Mukherjee,
Chaitanya Bandlamudi,
Jinru Shia,
Yelena Kemel,
Karen A. Cadoo,
Ying Liu,
Maria I. Carlo,
Megha Ranganathan,
Sarah Kane,
Preethi Srinivasan,
Shweta S. Chavan,
Mark T.A. Donoghue,
Caitlin Bourque,
Margaret Sheehan,
Prince Rainier Tejada,
Zalak Patel,
Angela G. Arnold,
Jennifer A. Kennedy,
K. Amoroso,
Kelsey Breen,
Amanda Catchings,
Rosalba Sacca,
Vanessa Marcell,
Arnold J. Markowitz,
Alicia Latham,
Michael F. Walsh,
Maksym Misyura,
Ozge CeyhanBirsoy,
David B. Solit,
Michael F. Berger,
Mark E. Robson,
Barry S. Taylor,
Kenneth Offit,
Diana Mandelker,
Zsofia K. Stadler
Publication year - 2021
Publication title -
jco precision oncology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.405
H-Index - 22
ISSN - 2473-4284
DOI - 10.1200/po.20.00443
Subject(s) - cancer , germline , loss of heterozygosity , population , genetics , colorectal cancer , allele , dna mismatch repair , biology , germline mutation , microsatellite instability , medicine , cancer research , gene , mutation , microsatellite , environmental health
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.