Tumor BRCA testing can reveal a high tumor mutational burden related to POLE pathogenic variants.
Gynecologic Oncology Reports
Villy, M-C MC; Masliah-Planchon, J J; Melaabi, S S; Trabelsi Grati, O O; Girard, E E; Bataillon, G G; Vincent-Salomon, A A; Le Gall, J J; Golmard, L L; Stoppa-Lyonnet, D D; Bieche, I I; Colas, C C
Publication Date: 2021-08
Variant appearance in text: BRCA1: 3890C>A; Ser1297Tyr
Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Hart, Steven N SN; Hoskin, Tanya T; Shimelis, Hermela H; Moore, Raymond M RM; Feng, Bingjian B; Thomas, Abigail A; Lindor, Noralane M NM; Polley, Eric C EC; Goldgar, David E DE; Iversen, Edwin E; Monteiro, Alvaro N A ANA; Suman, Vera J VJ; Couch, Fergus J FJ