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

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 characte...

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Pubblicato in:JCO Precis Oncol
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Wolters Kluwer Health 2021
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ORIGINAL REPORTS
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC8232072/
https://ncbi.nlm.nih.gov/pubmed/34250384
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1200/PO.20.00443
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