BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin

Clinical Genetics

Volumn 77, Issue 1, 2010, Pages 60-69

  Infante, M ^a   Duran M ^a   Acedo, A ^a   Perez Cabornero L ^a   Sanz, D J ^a   Garcia Gonzalez M ^b   Beristain, E ^c   Esteban Cardenosa E ^d   de la Hoya, M ^e,f   Teule A ^g   Vega, A ^h   Tejada, M I ^c   Lastra, E ^b   Miner, C ^a   Velasco, E A ^a  

^a Universidad de Valladolid y Consejo Superior de Investigaciones Científicas   (Spain)

^b HOSPITAL UNIVERSITARIO DE BURGOS   (Spain)

^c HOSPITAL DE CRUCES   (Spain)

^d HOSPITAL UNIVERSITARIO LA FE   (Spain)

^e HOSPITAL CLÍNICO SAN CARLOS   (Spain)

^f INSTITUTO DE SALUD CARLOS III   (Spain)

^g CATALAN INSTITUTE OF ONCOLOGY   (Spain)

^h CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

Author keywords

BRCA1; BRCA2; Breast cancer; Founder mutations; Ovarian cancer

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

ADULT; AGED; ARTICLE; BREAST CANCER; CLINICAL ARTICLE; FAMILIAL CANCER; FAMILY ASSESSMENT; FEMALE; GENE MUTATION; GENETIC CONSERVATION; GENETIC COUNSELING; GENOTYPE; HAPLOTYPE; HUMAN; MALE; MARKER GENE; NUCLEOTIDE SEQUENCE; OVARY CANCER; PRIORITY JOURNAL; SPAIN;

ADULT; AGED; BREAST NEOPLASMS; BREAST NEOPLASMS, MALE; FEMALE; FOUNDER EFFECT; GENES, BRCA1; GENES, BRCA2; GENETIC COUNSELING; GERM-LINE MUTATION; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; MUTATION; OVARIAN NEOPLASMS; PEDIGREE; SEQUENCE DELETION; SPAIN; YOUNG ADULT;

EID: 73049103397     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01272.x     Document Type: Article

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