Pathogenic and likely pathogenic variants in PALB2 , CHEK2 , and other known breast cancer susceptibility genes among 1054 BRCA -negative Hispanics with breast cancer

The spectrum of genetic variants in hereditary pancreatic cancer includes Fanconi anemia genes

(2017) Thomas P. Slavin et al.   Familial Cancer

National Estimates of Genetic Testing in Women With a History of Breast or Ovarian Cancer

(2017) Christopher P. Childers et al.   JOURNAL OF CLINICAL ONCOLOGY

Gaps in Incorporating Germline Genetic Testing Into Treatment Decision-Making for Early-Stage Breast Cancer

(2017) Allison W. Kurian et al.   JOURNAL OF CLINICAL ONCOLOGY

Clinical testing with a panel of 25 genes associated with increased cancer risk results in a significant increase in clinically significant findings across a broad range of cancer histories

(2017) Eric T. Rosenthal et al.   Cancer Genetics

Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer

(2017) Fergus J. Couch et al.   JAMA Oncology

Extending Comprehensive Cancer Center Expertise in Clinical Cancer Genetics and Genomics to Diverse Communities: The Power of Partnership

(2017) Deborah J. MacDonald et al.   Journal of the National Comprehensive Cancer Network

Haplotype analyses of the c.1027C>T and c.2167_2168delAT recurrent truncating mutations in the breast cancer-predisposing gene PALB2

(2016) Irene Catucci et al.   BREAST CANCER RESEARCH AND TREATMENT

Age- and Tumor Subtype–Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers

(2016) Marjanka K. Schmidt et al.   JOURNAL OF CLINICAL ONCOLOGY

Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer

(2016) Nadine Tung et al.   JOURNAL OF CLINICAL ONCOLOGY

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

The prevalence of BRCA1 and BRCA2 mutations among young Mexican women with triple-negative breast cancer

(2015) C. Villarreal-Garza et al.   BREAST CANCER RESEARCH AND TREATMENT

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Progress and remaining challenges for cancer control in Latin America and the Caribbean

(2015) Kathrin Strasser-Weippl et al.   LANCET ONCOLOGY

Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk

(2015) Douglas F. Easton et al.   NEW ENGLAND JOURNAL OF MEDICINE

Significant clinical impact of recurrentBRCA1andBRCA2mutations in Mexico

(2014) Cynthia Villarreal-Garza et al.   CANCER

Prevalence ofBRCA1andBRCA2mutations in unselected breast cancer patients from Peru

(2014) J. Abugattas et al.   CLINICAL GENETICS

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Clinical significance of large rearrangements inBRCA1andBRCA2

(2012) Thaddeus Judkins et al.   CANCER

Prevalence and Type of BRCA Mutations in Hispanics Undergoing Genetic Cancer Risk Assessment in the Southwestern United States: A Report From the Clinical Cancer Genetics Community Research Network

(2012) Jeffrey N. Weitzel et al.   JOURNAL OF CLINICAL ONCOLOGY

Reconstructing Native American population history

(2012) David Reich et al.   NATURE

SIFT web server: predicting effects of amino acid substitutions on proteins

(2012) Ngak-Leng Sim et al.   NUCLEIC ACIDS RESEARCH

Development of a Panel of Genome-Wide Ancestry Informative Markers to Study Admixture Throughout the Americas

(2012) Joshua Mark Galanter et al.   PLoS Genetics

BRCA1 and BRCA2 mutations among ovarian cancer patients from Colombia

(2011) Alexandra Ortiz Rodríguez et al.   GYNECOLOGIC ONCOLOGY

Genetic Variation in Native Americans, Inferred from Latino SNP and Resequencing Data

(2011) J. D. Wall et al.   MOLECULAR BIOLOGY AND EVOLUTION

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

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

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

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

Absence of the BRCA1 del (exons 9–12) mutation in breast/ovarian cancer families outside of Mexican Hispanics

(2009) Diana Torres et al.   BREAST CANCER RESEARCH AND TREATMENT

Detection of nonneutral substitution rates on mammalian phylogenies

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

Genetic Ancestry and Risk of Breast Cancer among U.S. Latinas

(2008) L. Fejerman et al.   CANCER RESEARCH

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

(2008) C Sue Richards et al.   GENETICS IN MEDICINE

CHEK2*1100delC Genotyping for Clinical Assessment of Breast Cancer Risk: Meta-Analyses of 26,000 Patient Cases and 27,000 Controls

(2008) Maren Weischer et al.   JOURNAL OF CLINICAL ONCOLOGY