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5. Clonal Hematopoiesis and Mosaicism Revealed by a Multi-Tissue Analysis of Constitutional TP53 Status. Castillo D; Yuan TA; Nehoray B; Cervantes A; Tsang KK; Yang K; Sand SR; Mokhnatkin J; Herzog J; Slavin TP; Hyman S; Schwartz A; Ebert BL; Amos CI; Garber JE; Weitzel JN Cancer Epidemiol Biomarkers Prev; 2022 Aug; 31(8):1621-1629. PubMed ID: 35654360 [TBL] [Abstract][Full Text] [Related]
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8. Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants. Fortuno C; Lee K; Olivier M; Pesaran T; Mai PL; de Andrade KC; Attardi LD; Crowley S; Evans DG; Feng BJ; Foreman AKM; Frone MN; Huether R; James PA; McGoldrick K; Mester J; Seifert BA; Slavin TP; Witkowski L; Zhang L; Plon SE; Spurdle AB; Savage SA; Hum Mutat; 2021 Mar; 42(3):223-236. PubMed ID: 33300245 [TBL] [Abstract][Full Text] [Related]
9. Clinical management of TP53 mosaic variants found on germline genetic testing. Ward A; Farengo-Clark D; McKenna DB; Safonov A; Good M; Le A; Kessler L; Shah PD; Bradbury AR; Domchek SM; Nathanson KL; Powers J; Maxwell KN Cancer Genet; 2024 Jun; 284-285():43-47. PubMed ID: 38677009 [TBL] [Abstract][Full Text] [Related]
11. Terradas M; Mur P; Belhadj S; Woodward ER; Burghel GJ; Munoz-Torres PM; Quintana I; Navarro M; Brunet J; Lazaro C; Pineda M; Moreno V; Capella G; Evans DGR; Valle L Gut; 2021 Jun; 70(6):1139-1146. PubMed ID: 32998877 [TBL] [Abstract][Full Text] [Related]
12. A substantial proportion of apparently heterozygous TP53 pathogenic variants detected with a next-generation sequencing hereditary pan-cancer panel are acquired somatically. Coffee B; Cox HC; Bernhisel R; Manley S; Bowles K; Roa BB; Mancini-DiNardo D Hum Mutat; 2020 Jan; 41(1):203-211. PubMed ID: 31490007 [TBL] [Abstract][Full Text] [Related]
13. Evolution of germline TP53 variant classification in children with cancer. Tallis E; Scollon S; Ritter DI; Plon SE Cancer Genet; 2022 Jun; 264-265():29-32. PubMed ID: 35306447 [TBL] [Abstract][Full Text] [Related]
14. Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines. Fortuno C; Mester J; Pesaran T; Weitzel JN; Dolinsky J; Yussuf A; McGoldrick K; Garber JE; Savage SA; Khincha PP; Gareth Evans D; Achatz MI; Nichols KE; Maxwell KN; Schiffman JD; Sandoval R; ; James PA; Spurdle AB Hum Mutat; 2020 Sep; 41(9):1555-1562. PubMed ID: 32485079 [TBL] [Abstract][Full Text] [Related]
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16. Interpretation of ambiguous TP53 test results: Mosaicism, clonal hematopoiesis, and variants of uncertain significance. Berry DK; Gillis N; Padron E; Moore C; Barton LV; Gewandter KR; Haskins CG; Knepper TC J Genet Couns; 2024 Aug; 33(4):916-926. PubMed ID: 37715966 [TBL] [Abstract][Full Text] [Related]
17. An updated quantitative model to classify missense variants in the TP53 gene: A novel multifactorial strategy. Fortuno C; Pesaran T; Dolinsky J; Yussuf A; McGoldrick K; Tavtigian SV; Goldgar D; Spurdle AB; James PA Hum Mutat; 2021 Oct; 42(10):1351-1361. PubMed ID: 34273903 [TBL] [Abstract][Full Text] [Related]
18. Li-Fraumeni syndrome: not a straightforward diagnosis anymore-the interpretation of pathogenic variants of low allele frequency and the differences between germline PVs, mosaicism, and clonal hematopoiesis. Batalini F; Peacock EG; Stobie L; Robertson A; Garber J; Weitzel JN; Tung NM Breast Cancer Res; 2019 Sep; 21(1):107. PubMed ID: 31533767 [TBL] [Abstract][Full Text] [Related]
19. Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity. Penkert J; Schmidt G; Hofmann W; Schubert S; Schieck M; Auber B; Ripperger T; Hackmann K; Sturm M; Prokisch H; Hille-Betz U; Mark D; Illig T; Schlegelberger B; Steinemann D Breast Cancer Res; 2018 Aug; 20(1):87. PubMed ID: 30086788 [TBL] [Abstract][Full Text] [Related]
20. Current review of TP53 pathogenic germline variants in breast cancer patients outside Li-Fraumeni syndrome. Fortuno C; James PA; Spurdle AB Hum Mutat; 2018 Dec; 39(12):1764-1773. PubMed ID: 30240537 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]