Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients

An intronic polymorphic deletion in the PTEN gene: implications for molecular diagnostic testing

(2013) S Sandell et al.   BRITISH JOURNAL OF CANCER

Comprehensive Analysis of BRCA1, BRCA2 and TP53 Germline Mutation and Tumor Characterization: A Portrait of Early-Onset Breast Cancer in Brazil

(2013) Dirce Maria Carraro et al.   PLoS One

A novel SYBR-based duplex qPCR for the detection of gene dosage: detection of an APC large deletion in a familial adenomatous polyposis patient with an unusual phenotype

(2012) Giovana Tardin Torrezan et al.   BMC Medical Genetics

Rare germline large rearrangements in the BRCA1/2 genes and eight candidate genes in 472 patients with breast cancer predisposition

(2012) E. Rouleau et al.   BREAST CANCER RESEARCH AND TREATMENT

Breast and Ovarian Cancer Risk and Risk Reduction in JewishBRCA1/2Mutation Carriers

(2012) Brian S. Finkelman et al.   JOURNAL OF CLINICAL ONCOLOGY

Comprehensive molecular portraits of human breast tumours

(2012) Daniel C. Koboldt et al.   NATURE

Classification of missense substitutions in the BRCA genes: A database dedicated to Ex-UVs

(2011) Maxime P. Vallée et al.   HUMAN MUTATION

Clinical Management of Hereditary Breast Cancer Syndromes

(2011) Amy S. Clark et al.   JOURNAL OF MAMMARY GLAND BIOLOGY AND NEOPLASIA

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

On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations

(2010) Nancy Hamel et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Prevalence of BRCA1 and BRCA2 gene mutations in families with medium and high risk of breast and ovarian cancer in Brazil

(2009) V.F. Esteves et al.   BRAZILIAN JOURNAL OF MEDICAL AND BIOLOGICAL RESEARCH

Highly prevalent TP53 mutation predisposing to many cancers in the Brazilian population: a case for newborn screening?

(2009) Maria Isabel Waddington Achatz et al.   LANCET ONCOLOGY

Founder effect of the BRCA1 5382insC mutation in Brazilian patients with hereditary breast ovary cancer syndrome

(2008) E.C.B. da Costa et al.   CANCER GENETICS AND CYTOGENETICS

Detection of R337H, a germline TP53 mutation predisposing to multiple cancers, in asymptomatic women participating in a breast cancer screening program in Southern Brazil

(2008) Edenir Inêz Palmero et al.   CANCER LETTERS