The profile and contribution of rare germline copy number variants to cancer risk in Li-Fraumeni patients negative for TP53 mutations

Orphanet Journal of Rare Diseases

Volumn 9, Issue 1, 2014, Pages

  Silva, Amanda G ^a   Krepischi, Ana C V ^a,b   Pearson, Peter L ^a   Hainaut, Pierre ^c   Rosenberg, Carla ^a   Achatz, Maria Isabel ^b  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b A C CAMARGO CANCER CENTER   (Brazil)

^c INTERNATIONAL PREVENTION RESEARCH INSTITUTE   (France)

Author keywords

Familial cancer; Li Fraumeni syndrome; Rare CNVs

Indexed keywords

PROTEIN P53;

ADOLESCENT; ADULT; ARTICLE; CANCER RISK; CANCER SUSCEPTIBILITY; CLINICAL CLASSIFICATION; COHORT ANALYSIS; COMPARATIVE STUDY; CONTROLLED STUDY; COPY NUMBER VARIATION; FAMILIAL CANCER; GENE MUTATION; GENETIC SCREENING; HUMAN; HUMAN GENOME; MAJOR CLINICAL STUDY; ONSET AGE;

DNA COPY NUMBER VARIATIONS; GENES, P53; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HUMANS; LI-FRAUMENI SYNDROME; NEOPLASMS;

EID: 84899988620     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-9-63     Document Type: Article

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