The impact of next generation sequencing on the analysis of breast cancer susceptibility: a role for extremely rare genetic variation?

Multiplex Genetic Testing for Cancer Susceptibility: Out on the High Wire Without a Net?

(2013) Susan M. Domchek et al.   JOURNAL OF CLINICAL ONCOLOGY

Large-scale genotyping identifies 41 new loci associated with breast cancer risk

(2013) Kyriaki Michailidou et al.   NATURE GENETICS

Exome Sequencing of Germline DNA from Non-BRCA1/2 Familial Breast Cancer Cases Selected on the Basis of aCGH Tumor Profiling

(2013) Florentine S. Hilbers et al.   PLoS One

Whole Exome Sequencing Suggests Much of Non-BRCA1/BRCA2 Familial Breast Cancer Is Due to Moderate and Low Penetrance Susceptibility Alleles

(2013) Francisco Javier Gracia-Aznarez et al.   PLoS One

Evidence of Gene–Environment Interactions between Common Breast Cancer Susceptibility Loci and Established Environmental Risk Factors

(2013) Stefan Nickels et al.   PLoS Genetics

Rare Mutations in XRCC2 Increase the Risk of Breast Cancer

(2012) D.J. Park et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom’s syndrome, is associated with breast cancer in Slavic populations

(2012) Darya Prokofyeva et al.   BREAST CANCER RESEARCH AND TREATMENT

Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing

(2012) K. De Leeneer et al.   BREAST CANCER RESEARCH AND TREATMENT

Familial Breast Cancer

(2012) F Lalloo et al.   CLINICAL GENETICS

Response to DNA damage of CHEK2 missense mutations in familial breast cancer

(2012) Wendy Roeb et al.   HUMAN MOLECULAR GENETICS

Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families

(2012) Ana Osorio et al.   HUMAN MOLECULAR GENETICS

Rare variants in XRCC2 as breast cancer susceptibility alleles: Table 1

(2012) Florentine S Hilbers et al.   JOURNAL OF MEDICAL GENETICS

BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

(2012) Amanda B Spurdle et al.   JOURNAL OF MEDICAL GENETICS

Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation: Figure 1

(2012) Hanan E Shamseldin et al.   JOURNAL OF MEDICAL GENETICS

Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

(2012) Elise Ruark et al.   NATURE

Germline RAD51C mutations confer susceptibility to ovarian cancer

(2012) Chey Loveday et al.   NATURE GENETICS

Recent Explosive Human Population Growth Has Resulted in an Excess of Rare Genetic Variants

(2012) A. Keinan et al.   SCIENCE

Breast Cancer-Associated Abraxas Mutation Disrupts Nuclear Localization and DNA Damage Response Functions

(2012) S. Solyom et al.   Science Translational Medicine

Exome Sequencing Identifies Rare Deleterious Mutations in DNA Repair Genes FANCC and BLM as Potential Breast Cancer Susceptibility Alleles

(2012) Ella R. Thompson et al.   PLoS Genetics

Genetic modifiers of cancer risk for BRCA1 and BRCA2 mutation carriers

(2011) R. L. Milne et al.   ANNALS OF ONCOLOGY

Cancer predisposing BARD1 mutations in breast–ovarian cancer families

(2011) Magdalena Ratajska et al.   BREAST CANCER RESEARCH AND TREATMENT

FAN1 variants identified in multiple-case early-onset breast cancer families via exome sequencing: no evidence for association with risk for breast cancer

(2011) Daniel J. Park et al.   BREAST CANCER RESEARCH AND TREATMENT

Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer

(2011) Shiyu Zhang et al.   GYNECOLOGIC ONCOLOGY

Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients

(2011) Ella R. Thompson et al.   HUMAN MUTATION

ENIGMA-Evidence-based network for the interpretation of germline mutant alleles: An international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes

(2011) Amanda B. Spurdle et al.   HUMAN MUTATION

High prevalence and breast cancer predisposing role of the BLM c.1642 C>T (Q548X) mutation in Russia

(2011) Anna P. Sokolenko et al.   INTERNATIONAL JOURNAL OF CANCER

Mutations in BRIP1 confer high risk of ovarian cancer

(2011) Thorunn Rafnar et al.   NATURE GENETICS

RAD51C Germline Mutations in Breast and Ovarian Cancer Cases from High-Risk Families

(2011) Jessica Clague et al.   PLoS One

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

Evaluation of the Contribution of the Three Breast Cancer Susceptibility Genes CHEK2, STK11, and PALB2 in Non-BRCA1/2 French Canadian Families with High Risk of Breast Cancer

(2010) Frédéric Guénard 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

Germline mutations in CDH1 are infrequent in women with early-onset or familial lobular breast cancers

(2010) K. A. Schrader et al.   JOURNAL OF MEDICAL GENETICS

Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene

(2010) Alfons Meindl et al.   NATURE GENETICS

Susceptibility Pathways in Fanconi's Anemia and Breast Cancer

(2010) Alan D. D'Andrea   NEW ENGLAND JOURNAL OF MEDICINE

A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example

(2009) Leila Mohammadi et al.   BMC CANCER

Rad50 c.687delT Does Not Contribute Significantly to Familial Breast Cancer in a French Population

(2009) N. Uhrhammer et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

Mutational analysis of FANCL , FANCM and the recently identified FANCI suggests that among the 13 known Fanconi Anemia genes, only FANCD1/BRCA2 plays a major role in high-risk breast cancer predisposition

(2009) María J. García et al.   CARCINOGENESIS

The prevalence of germ-line TP53 mutations in women diagnosed with breast cancer before age 30

(2009) Ophira M. Ginsburg et al.   Familial Cancer

Aberrations of the MRE11-RAD50-NBS1 DNA damage sensor complex in human breast cancer: MRE11 as a candidate familial cancer-predisposing gene

(2008) Jirina Bartkova et al.   Molecular Oncology