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-Reference-Cited by-同舟云学术

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

Published:2013-03-12 Issue:4 Volume:12 Page:767-777
ISSN:1389-9600
Container-title:Familial Cancer
language:en
Short-container-title:Familial Cancer

Author:

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

Publisher

Springer Science and Business Media LLC

Subject

Cancer Research,Genetics (clinical),Oncology,Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10689-013-9622-2.pdf

Reference36 articles.

1. Miki Y, Swensen J, Shattuck-Eidens D et al (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266:66–71

2. Wooster R, Bignell G, Lancaster J et al (1995) Identification of the breast cancer susceptibility gene BRCA2. Nature 378:789–792

3. Hartge P, Struewing JP, Wacholder S, Brody LC, Tucker MA (1999) The prevalence of common BRCA1 and BRCA2 mutations among Ashkenazi Jews. Am J Hum Genet 64:963–970

4. Laitman Y, Simeonov M, Herskovitz L et al (2012) Recurrent germline mutations in BRCA1 and BRCA2 genes in high risk families in Israel. Breast Cancer Res Treat 133:1153–1157

5. Thorlacius S, Olafsdottir G, Tryggvadottir L et al (1996) A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes. Nat Genet 13:117–119

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