Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion

BMC Cancer

Volumn 12, Issue , 2012, Pages

  Silva, Amanda G ^a,b   Ewald, Ingrid P ^c,d   Sapienza, Marina ^e   Pinheiro, Manuela ^f   Peixoto, Ana ^f   de Nóbrega, Amanda F ^a   Carraro, Dirce M ^a,b   Teixeira, Manuel R ^f,g   Ashton Prolla, Patricia ^c,d   Achatz, Maria Isabel W ^a,b   Rosenberg, Carla ^b,e   Krepischi, Ana C V ^a,b  

^a A C CAMARGO CANCER CENTER   (Brazil)

^b National Institute of Science and Technology in Oncogenomics   (Brazil)

^c HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^d FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

^e UNIVERSITY OF SÃO PAULO   (Brazil)

^f PORTUGUESE ONCOLOGY INSTITUTE   (Portugal)

^g UNIVERSITY OF PORTO   (Portugal)

Author keywords

BRCA1 microdeletion; Breast cancer; Copy number variation; Li Fraumeni syndrome; MLPA

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; DNA; PROTEIN P53; BRCA1 PROTEIN, HUMAN;

ADULT; ARTICLE; CANCER PATIENT; CANCER RISK; CANCER SUSCEPTIBILITY; CHROMOSOME BREAKAGE; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; DNA SEQUENCE; EXON; FAMILY HISTORY; FEMALE; GENE DELETION; GENE INSERTION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; HUMAN; LI FRAUMENI-LIKE SYNDROME; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PHENOTYPE; POINT MUTATION; SEQUENCE ANALYSIS; BREAST TUMOR; CHROMOSOME ABERRATION; CHROMOSOME MAP; FAMILIAL CANCER; GENETICS; MIDDLE AGED; PEDIGREE; TUMOR SUPPRESSOR GENE;

ADULT; BRCA1 PROTEIN; BREAST NEOPLASMS; CHROMOSOME ABERRATIONS; CHROMOSOME MAPPING; DNA COPY NUMBER VARIATIONS; FEMALE; GENE DELETION; GENES, BRCA1; HUMANS; LI-FRAUMENI SYNDROME; MIDDLE AGED; PEDIGREE;

EID: 84869503925     PISSN: None     EISSN: 14712407     Source Type: Journal    
DOI: 10.1186/1471-2407-12-237     Document Type: Article

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