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

Erin E Salo-MullenAnna MaioSemanti MukherjeeChaitanya BandlamudiJinru ShiaYelena M KemelKaren A CadooYing L LiuMaria Isabel CarloMegha RanganathanSarah KanePreethi SrinivasanShweta S ChavanMark T A DonoghueCaitlin BourqueMargaret SheehanPrince Rainier TejadaZalak PatelAngela G ArnoldJennifer A KennedyKimberly AmorosoKelsey E BreenAmanda CatchingsRosalba SaccaVanessa MarcellArnold J MarkowitzAlicia J LathamMichael F WalshMaksym MisyuraOzge Ceyhan-BirsoyDavid B SolitMichael F BergerMark E RobsonBarry S TaylorKenneth OffitDiana MandelkerZsofia K Stadler
Published in: JCO precision oncology (2021)
NTHL1 and MSH3 germline alterations were not enriched in this pan-cancer patient population. However, tumor-specific findings, such as mutational signature 30 and loss of heterozygosity of the wild-type allele, suggest the potential contribution of monoallelic variants to tumorigenesis in a subset of patients.
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