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 StadlerPublished 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.
Keyphrases
- papillary thyroid
- wild type
- end stage renal disease
- case report
- squamous cell
- chronic kidney disease
- ejection fraction
- newly diagnosed
- risk factors
- peritoneal dialysis
- squamous cell carcinoma
- lymph node metastasis
- copy number
- risk assessment
- patient reported outcomes
- childhood cancer
- climate change
- autism spectrum disorder