Somatic TP53 variants frequently confound germ-line testing results

Genetics in Medicine

Volumn 20, Issue 8, 2018, Pages 809-816

  Weitzel, Jeffrey N ^a   Chao, Elizabeth C ^b,c   Nehoray, Bita ^a   Van Tongeren, Lily R ^a   LaDuca, Holly ^b   Blazer, Kathleen R ^a   Slavin, Thomas ^d   Facmg, D A B M D ^a   Pesaran, Tina ^b   Rybak, Christina ^a   Solomon, Ilana ^a   Niell Swiller, Mariana ^a   Dolinsky, Jill S ^b   Castillo, Danielle ^a   Elliott, Aaron ^b   Gau, Chia Ling ^b   Speare, Virginia ^b   Jasperson, Kory ^b  

^a CITY OF HOPE NATIONAL MEDICAL CENTER   (United States)

^b AMBRY GENETICS   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d NONE

Author keywords

aberrant clonal expansion; clonal hematopoiesis; Li Fraumeni syndrome; somatic variant; TP53

Indexed keywords

ATM PROTEIN; DNA GLYCOSYLASE MUTY; EPITHELIAL CELL ADHESION MOLECULE; MISMATCH REPAIR PROTEIN PMS2; PARTNER AND LOCALIZER OF BRCA2; PROSTATE SPECIFIC ANTIGEN; PROTEIN P53; RAD50 PROTEIN; TP53 PROTEIN, HUMAN;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ACUTE MYELOID LEUKEMIA; ADULT; ARTICLE; ATM GENE; BRIP1 GENE; CHRONIC LYMPHATIC LEUKEMIA; CLONAL VARIATION; CONTROLLED STUDY; EPCAM GENE; ESTROGEN RECEPTOR POSITIVE BREAST CANCER; FAMILY HISTORY; FEMALE; GENE DELETION; GENE DUPLICATION; GENE FREQUENCY; GENETIC SCREENING; GERMLINE MUTATION; GLEASON SCORE; GREM1 GENE; HEMATOPOIESIS; HEREDITARY TUMOR SYNDROME; HUMAN; HUMAN EPIDERMAL GROWTH FACTOR RECEPTOR 2 POSITIVE BREAST CANCER; INTRON; LUNG CANCER; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MLH1 GENE; MULTIGENE PANEL TESTING; MUTYH GENE; MYELODYSPLASTIC SYNDROME; NEXT GENERATION SEQUENCING; ONCOGENE; OVARY CANCER; PALB2 GENE; PMS2 GENE; PREVALENCE; PROSTATE BIOPSY; PROSTATE CANCER; RAD50 GENE; RECTUM CANCER; SANGER SEQUENCING; SOMATIC MUTATION; TP53 GENE; TRIPLE NEGATIVE BREAST CANCER; GENETIC PREDISPOSITION; GENETIC VARIATION; GENETICS; GERM CELL; LI-FRAUMENI SYNDROME; METABOLISM; MUTATION; PEDIGREE; PROCEDURES; TUMOR SUPPRESSOR GENE;

GENES, P53; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENETIC VARIATION; GERM CELLS; GERM-LINE MUTATION; HUMANS; LI-FRAUMENI SYNDROME; MUTATION; PEDIGREE; TUMOR SUPPRESSOR PROTEIN P53;

EID: 85052737553     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2017.196     Document Type: Article

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