Novel and recurrent BRCA1/BRCA2 mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family phenotypes with mutation prevalence

Familial Cancer

Volumn 12, Issue 4, 2013, Pages 767-777

  De Juan Jiménez, Inmaculada ^a   García Casado, Zaida ^b   Palanca Suela, Sarai ^a   Esteban Cardeñosa, Eva ^a   López Guerrero, José Antonio ^b   Segura Huerta, Ángel ^a   Chirivella González, Isabel ^c   Sánchez Heras, Ana Beatriz ^d   Juan Fita, Ma José ^b   Tena García, Isabel ^e   Guillen Ponce, Carmen ^d   Martínez De Dueñas, Eduardo ^e   Romero Noguera, Ignacio ^b   Salas Trejo, Dolores ^f   Goicoechea Sáez, Mercedes ^f   Bolufer Gilabert, Pascual ^a  

^a HOSPITAL UNIVERSITARIO LA FE   (Spain)

^b INSTITUTO VALENCIANO DE ONCOLOGÍA   (Spain)

^c Hospital Clinic   (Spain)

^d HOSPITAL GENERAL UNIVERSITARIO DE ELCHE   (Spain)

^e HOSPITAL GENERAL DE CASTELLÓN   (Spain)

^f Department of Public Health   (Spain)

Author keywords

BRCA1; BRCA2; Hereditary breast and ovarian cancer (HBOC); Novel mutations; Recurrent mutations; Relationship genotype phenotype

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

ADULT; AGED; ARTICLE; BREAST CANCER; EXON; FAMILIAL CANCER; FAMILY HISTORY; FEMALE; FIRST DEGREE RELATIVE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; HUMAN; MAJOR CLINICAL STUDY; MALE; ONSET AGE; OVARY CANCER; PHENOTYPE; PRIORITY JOURNAL; RECURRENT CANCER; SPAIN;

ADULT; AGE OF ONSET; AGED; BRCA1 PROTEIN; BRCA2 PROTEIN; BREAST NEOPLASMS; DNA, NEOPLASM; EARLY DETECTION OF CANCER; FAMILY; FEMALE; FOLLOW-UP STUDIES; GENETIC COUNSELING; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MIDDLE AGED; MUTATION; OVARIAN NEOPLASMS; PHENOTYPE; POLYMERASE CHAIN REACTION; PREVALENCE; PROGNOSIS; SPAIN; YOUNG ADULT;

EID: 84888204544     PISSN: 13899600     EISSN: 15737292     Source Type: Journal    
DOI: 10.1007/s10689-013-9622-2     Document Type: Article

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