Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations

A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands

(2013) R. van Minkelen et al.   CLINICAL GENETICS

Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model

(2013) Julien Tarabeux et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A new scoring system in cancer genetics: application to criteria forBRCA1andBRCA2mutation screening

(2013) Bernard Bonaïti et al.   JOURNAL OF MEDICAL GENETICS

Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE

(2013) Nasim Mavaddat et al.   JNCI-Journal of the National Cancer Institute

A genomic view of mosaicism and human disease

(2013) Leslie G. Biesecker et al.   NATURE REVIEWS GENETICS

A germline mosaicBRCA1exon deletion in a woman with bilateral basal-like breast cancer

(2012) I Delon et al.   CLINICAL GENETICS

De novo mutations in human genetic disease

(2012) Joris A. Veltman et al.   NATURE REVIEWS GENETICS

A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancer

(2011) Zaida Garcia-Casado et al.   BMC Medical Genetics

Prevalence of BRCA1/2 mutations in sporadic breast/ovarian cancer patients and identification of a novel de novo BRCA1 mutation in a patient diagnosed with late onset breast and ovarian cancer: implications for genetic testing

(2011) Kim De Leeneer et al.   BREAST CANCER RESEARCH AND TREATMENT

Assessment of the prevalence of de novo mutations in the BRCA1 and BRCA2 genes

(2011) L Zhang et al.   CLINICAL GENETICS

A novel de novo BRCA1 mutation in a Chinese woman with early onset breast cancer

(2011) Ava Kwong et al.   Familial Cancer

Variation in the mutation rate across mammalian genomes

(2011) Alan Hodgkinson et al.   NATURE REVIEWS GENETICS

Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases

(2011) Sandrine Caputo et al.   NUCLEIC ACIDS RESEARCH

EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients

(2010) Virginie Caux-Moncoutier et al.   HUMAN MUTATION

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

(2010) Tom Walsh et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A novel de novo BRCA2 mutation of paternal origin identified in a Spanish woman with early onset bilateral breast cancer

(2009) Orland Diez et al.   BREAST CANCER RESEARCH AND TREATMENT

Case report:de novo BRCA2gene mutation in a 35-year-old woman with breast cancer

(2009) M Marshall et al.   CLINICAL GENETICS

Identification of a de novo BRCA1 mutation in a woman with early onset bilateral breast cancer

(2009) Emma Edwards et al.   Familial Cancer

Fertility in women with BRCA mutations: a case-control study

(2009) Tuya Pal et al.   FERTILITY AND STERILITY

Novel de novo BRCA2mutation in a patient with a family history of breast cancer

(2008) Thomas V O Hansen et al.   BMC Medical Genetics