Identification of a Comprehensive Spectrum of Genetic Factors for Hereditary Breast Cancer in a Chinese Population by Next-Generation Sequencing

Mutation screen and RNA analysis disclose the changed splicing of the E-cadherin transcription in gastric cancer

(2013) Xiaowei Li et al.   Familial Cancer

Routine TP53 testing for breast cancer under age 30: ready for prime time?

(2012) Jeanna M. McCuaig et al.   Familial Cancer

Identification of BRCA1/2 Founder Mutations in Southern Chinese Breast Cancer Patients Using Gene Sequencing and High Resolution DNA Melting Analysis

(2012) Ava Kwong et al.   PLoS One

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

Abundant Pleiotropy in Human Complex Diseases and Traits

(2011) Shanya Sivakumaran et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Prevalence and characterization of BRCA1 and BRCA2 germline mutations in Chinese women with familial breast cancer

(2011) Juan Zhang et al.   BREAST CANCER RESEARCH AND TREATMENT

High-Resolution Melting Analysis for Mutation Screening of RGSL1, RGS16, and RGS8 in Breast Cancer

(2011) E. Wiechec et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer

(2011) Lucía Pérez-Carbonell et al.   GUT

Novel LOVD databases for hereditary breast cancer and colorectal cancer genes in the Chinese population

(2011) Min Pan et al.   HUMAN MUTATION

Double heterozygosity in the BRCA1 and BRCA2 genes in the Jewish population

(2010) O. Lavie et al.   ANNALS OF ONCOLOGY

Population-Based Estimate of the Contribution ofTP53Mutations to Subgroups of Early-Onset Breast Cancer: Australian Breast Cancer Family Study: Table 1.

(2010) Judy Mouchawar et al.   CANCER RESEARCH

Association of Risk-Reducing Surgery in BRCA1 or BRCA2 Mutation Carriers With Cancer Risk and Mortality

(2010) Susan M. Domchek   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes

(2010) M. W. G. Ruijs et al.   JOURNAL OF MEDICAL GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Susceptibility Pathways in Fanconi's Anemia and Breast Cancer

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

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

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

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

A polymorphism in Werner syndrome gene is associated with breast cancer susceptibility in Chinese women

(2009) Zhanwei Wang et al.   BREAST CANCER RESEARCH AND TREATMENT

Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives

(2009)   GENETICS IN MEDICINE

SNP detection for massively parallel whole-genome resequencing

(2009) R. Li et al.   GENOME RESEARCH

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH

Beyond Li Fraumeni Syndrome: Clinical Characteristics of Families Withp53Germline Mutations

(2009) Kelly D. Gonzalez et al.   JOURNAL OF CLINICAL ONCOLOGY

The prevalence of PALB2 germline mutations in BRCA1/BRCA2 negative Chinese women with early onset breast cancer or affected relatives

(2008) A-Yong Cao et al.   BREAST CANCER RESEARCH AND TREATMENT

Genetic Instability Caused by Loss of MutS Homologue 3 in Human Colorectal Cancer

(2008) A. C. Haugen et al.   CANCER RESEARCH

Germline mutation in theFGFR3gene in aTWIST1-negative family with saethre-chotzen syndrome and breast cancer

(2008) Pelle Sahlin et al.   GENES CHROMOSOMES & CANCER

Feasibility of Screening for Lynch Syndrome Among Patients With Colorectal Cancer

(2008) Heather Hampel et al.   JOURNAL OF CLINICAL ONCOLOGY

Genome-wide association studies for complex traits: consensus, uncertainty and challenges

(2008) Mark I. McCarthy et al.   NATURE REVIEWS GENETICS

The emerging landscape of breast cancer susceptibility

(2007) Michael R Stratton et al.   NATURE GENETICS