Large genomic rearrangements of BRCA1 and BRCA2 among patients referred for genetic analysis in Galicia (NW Spain): Delimitation and mechanism of three novel BRCA1 rearrangements

PLoS ONE

Volumn 9, Issue 3, 2014, Pages

  Fachal, Laura ^a   Blanco, Ana ^a   Santamariña, Marta ^b   Carracedo, Angel ^a   Vega, Ana ^a  

^a Santiago University Clinical Hospital   (Spain)

^b UNIVERSITY OF SANTIAGO DE COMPOSTELA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; ETHNICITY; EXON; FEMALE; GENE; GENE DELETION; GENE DUPLICATION; GENE FREQUENCY; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC ANALYSIS; HOMOLOGOUS RECOMBINATION; HUMAN; INDEL MUTATION; MAJOR CLINICAL STUDY; NBR2 GENE; NUCLEOTIDE SEQUENCE; SINGLE NUCLEOTIDE POLYMORPHISM; SPAIN; TUMOR SUPPRESSOR GENE; BREAST TUMOR; GENETIC SCREENING; GENETICS; MALE; MIDDLE AGED; MOLECULAR GENETICS; OVARY TUMOR; PEDIGREE; POINT MUTATION; PORTUGAL; PROCEDURES;

BRCA1 PROTEIN; BRCA2 PROTEIN;

ADULT; BASE SEQUENCE; BRCA1 PROTEIN; BRCA2 PROTEIN; BREAST NEOPLASMS; EXONS; FEMALE; GENE REARRANGEMENT; GENETIC TESTING; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; OVARIAN NEOPLASMS; PEDIGREE; POINT MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PORTUGAL; SEQUENCE DELETION; SPAIN;

EID: 84899855511     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0093306     Document Type: Article

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