Article
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 - 1 Dec 2013
de Juan Jiménez Inmaculada, García Casado Zaida, Palanca Suela Sarai, Esteban Cardeñosa Eva, López Guerrero José Antonio, Segura Huerta Ángel, Chirivella González Isabel, Sánchez Heras Ana Beatriz, Juan Fita Ma José, Tena García Isabel, Guillen Ponce Carmen, Martínez de Dueñas Eduardo, Romero Noguera Ignacio, Salas Trejo Dolores, Goicoechea Sáez Mercedes, Bolufer Gilabert Pascual
Abstract excerpt
During the first 6 years of the Program of Genetic Counselling in Cancer of Valencia (eastern Spain), 310 mutations (155 in BRCA1 and 155 in BRCA2) in 1,763 hereditary breast (BC) and ovarian cancer (OC) families were identified. Of the mutations found 105 were distinct (53 in BRCA1 and 52 in BRCA2), eight new and 37 recurrent. Two of the novel mutations were frame-shift placed in exons 2 and 11 of BRCA1 and the...
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