Germline TP53 mutations and the changing landscape of Li-Fraumeni syndrome

Human Mutation

Volumn 35, Issue 6, 2014, Pages 654-662

  Kamihara, Junne ^a   Rana, Huma Q ^b   Garber, Judy E ^b  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

Author keywords

Cancer; Genetic counseling; Germline; Li Fraumeni syndrome; Management; P53; Screening; TP53

Indexed keywords

PROTEIN MDM2; PROTEIN P53; SONIC HEDGEHOG PROTEIN;

APOPTOSIS; BRAZIL; BREAST CANCER; CANCER RISK; CANCER SCREENING; CANCER SUSCEPTIBILITY; CARCINOGENESIS; CARDIAC RESYNCHRONIZATION THERAPY DEVICE; DISEASE SEVERITY; EARLY CANCER; EARLY ONSET BREAST CANCER; EXON; FAMILIAL CANCER; FAMILY HISTORY; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GERMLINE MUTATION; HETEROZYGOTE; HIGH RISK POPULATION; HUMAN; LEUKEMIA; MEDULLOBLASTOMA; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEWBORN SCREENING; ONSET AGE; PHENOTYPE; PRACTICE GUIDELINE; PRIORITY JOURNAL; PROTEIN DNA BINDING; PROTEIN DOMAIN; PSYCHOSOCIAL CARE; REVIEW; RHABDOMYOSARCOMA; SEX DIFFERENCE; WHOLE BODY MRI; ADULT; CHILD; DIAGNOSTIC USE; GENETIC PREDISPOSITION; GENETICS; LI-FRAUMENI SYNDROME; PATHOLOGY; RISK FACTOR;

ADULT; CHILD; GENETIC COUNSELING; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HUMANS; LI-FRAUMENI SYNDROME; RISK FACTORS; TUMOR SUPPRESSOR PROTEIN P53;

EID: 84901033538     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22559     Document Type: Review

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