Identification of the first case of germline duplication of BRCA1 exon 13 in an Italian family

Familial Cancer

Volumn 9, Issue 3, 2010, Pages 275-282

  Cerutti, Roberta ^a   Sahnane, Nora ^a   Carnevali, Ileana ^a   Furlan, Daniela ^a   Tibiletti, Maria Grazia ^a   Chiaravalli, Anna Maria ^a   Capella, Carlo ^a  

^a UNIVERSITY OF INSUBRIA   (Italy)

Author keywords

BRCA1 exon 13 duplication; Founder mutations; Gene dosage analysis; Hereditary breast cancer; MLPA

Indexed keywords

BRCA1 PROTEIN; DNA; FORMALDEHYDE;

ADULT; ARTICLE; BREAST CANCER; BREAST CARCINOMA; CANCER PATIENT; CANCER SCREENING; CANCER TISSUE; CASE REPORT; CONTROLLED STUDY; DISEASE SEVERITY; EMBEDDING; EXON; FAMILIAL CANCER; FAMILY; FEMALE; FORMALIN FIXED PARAFFIN EMBEDDED; GENE DUPLICATION; GENE IDENTIFICATION; GENE MUTATION; GENETIC COUNSELING; GERM LINE; HAPLOTYPE; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; IMMUNOHISTOCHEMISTRY; ITALY; MOLECULAR GENETICS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PEDIGREE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

BREAST NEOPLASMS; EXONS; FAMILY; FEMALE; GENE DUPLICATION; GENES, BRCA1; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HAPLOTYPES; HUMANS; IMMUNOHISTOCHEMISTRY; ITALY; LOSS OF HETEROZYGOSITY; MALE; MIDDLE AGED; PEDIGREE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 78650223942     PISSN: 13899600     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10689-009-9315-z     Document Type: Article

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