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

BRIP1, PALB2, and RAD51C mutation analysis reveals their relative importance as genetic susceptibility factors for breast cancer

(2011) Michelle W. Wong et al.   BREAST CANCER RESEARCH AND TREATMENT

Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary

(2011) Phillip J. Whiley et al.   HUMAN MUTATION

Genetic variants associated with breast-cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence

(2011) Ben Zhang et al.   LANCET ONCOLOGY

Germline mutations in RAD51D confer susceptibility to ovarian cancer

(2011) Chey Loveday et al.   NATURE GENETICS

Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing

(2011) T. Walsh et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Screening RAD51C nucleotide alterations in patients with a family history of breast and ovarian cancer

(2010) Yonglan Zheng et al.   BREAST CANCER RESEARCH AND TREATMENT

Two novel variants in the 3′UTR of the BRCA1 gene in familial breast and/or ovarian cancer

(2010) Stéphanie Lheureux et al.   BREAST CANCER RESEARCH AND TREATMENT

Large genomic rearrangements of the BRCA1 and BRCA2 genes: review of the literature and report of a novel BRCA1 mutation

(2010) Michelle D. Sluiter et al.   BREAST CANCER RESEARCH AND TREATMENT

A missense variant within BRCA1 exon 23 causing exon skipping

(2010) Etienne Rouleau et al.   CANCER GENETICS AND CYTOGENETICS

BARD1 homozygous deletion, a possible alternative to BRCA1 mutation in basal breast cancer

(2010) Renaud Sabatier et al.   GENES CHROMOSOMES & CANCER

A One-Step Prescreening for Point Mutations and Large Rearrangement in BRCA1 and BRCA2 Genes Using Quantitative Polymerase Chain Reaction and High-Resolution Melting Curve Analysis

(2010) Florence Coulet et al.   Genetic Testing and Molecular Biomarkers

Cancer predisposing missense and protein truncatingBARD1mutations in non-BRCA1orBRCA2breast cancer families

(2010) Sylvia De Brakeleer 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

Distinct Roles of BARD1 Isoforms in Mitosis: Full-Length BARD1 Mediates Aurora B Degradation, Cancer-Associated BARD1  Scaffolds Aurora B and BRCA2

(2009) S. Ryser et al.   CANCER RESEARCH

Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study

(2009) Virginie Caux-Moncoutier et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Large intron 14 rearrangement in APC results in splice defect and attenuated FAP

(2009) Thérèse M. F. Tuohy et al.   HUMAN GENETICS

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

(2009) Sabina Benko et al.   NATURE GENETICS

Familial breast cancer screening reveals an alteration in the RAP80 UIM domain that impairs DNA damage response function

(2009) J Nikkilä et al.   ONCOGENE

High resolution discovery and confirmation of copy number variants in 90 Yoruba Nigerians

(2009) Hajime Matsuzaki et al.   GENOME BIOLOGY

Germline RAP80 mutations and susceptibility to breast cancer

(2008) Mohammad Reza Akbari et al.   BREAST CANCER RESEARCH AND TREATMENT

A Novel Breast Cancer-Associated BRIP1 (FANCJ/BACH1) Germ-line Mutation Impairs Protein Stability and Function

(2008) A. De Nicolo et al.   CLINICAL CANCER RESEARCH

Detection and precise mapping of germline rearrangements inBRCA1, BRCA2, MSH2, andMLH1using zoom-in array comparative genomic hybridization (aCGH)

(2008) Johan Staaf et al.   HUMAN MUTATION