Related references
Note: Only part of the references are listed.Inherited mutations in BRCA1 and BRCA2 in an unselected multiethnic cohort of Asian patients with breast cancer and healthy controls from Malaysia
Wei Xiong Wen et al.
JOURNAL OF MEDICAL GENETICS (2018)
Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results
Mary Pritzlaff et al.
BREAST CANCER RESEARCH AND TREATMENT (2017)
The spectrum of BRCA mutations and characteristics of BRCA-associated breast cancers in China: Screening of 2,991 patients and 1,043 controls by next-generation sequencing
Guan-Tian Lang et al.
INTERNATIONAL JOURNAL OF CANCER (2017)
Overview of the BioBank Japan Project: Study design and profile
Akiko Nagai et al.
JOURNAL OF EPIDEMIOLOGY (2017)
Cross-sectional analysis of BioBank Japan clinical data: A large cohort of 200,000 patients with 47 common diseases
Makoto Hirata et al.
JOURNAL OF EPIDEMIOLOGY (2017)
Characteristics and prognosis of Japanese female breast cancer patients: The BioBank Japan
Koshi Nakamura et al.
JOURNAL OF EPIDEMIOLOGY (2017)
Settling the score: variant prioritization and Mendelian disease
Karen Eilbeck et al.
NATURE REVIEWS GENETICS (2017)
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource
Natasha T. Strande et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2017)
A study of over 35,000 women with breast cancer tested with a 25-gene panel of hereditary cancer genes
Saundra S. Buys et al.
CANCER (2017)
ClinVar: public archive of interpretations of clinically relevant variants
Melissa J. Landrum et al.
NUCLEIC ACIDS RESEARCH (2016)
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek et al.
NATURE (2016)
BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance
D. M. Eccles et al.
ANNALS OF ONCOLOGY (2015)
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
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Inherited Mutations in 17 Breast Cancer Susceptibility Genes Among a Large Triple-Negative Breast Cancer Cohort Unselected for Family History of Breast Cancer
Fergus J. Couch et al.
JOURNAL OF CLINICAL ONCOLOGY (2015)
Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk
Douglas F. Easton et al.
NEW ENGLAND JOURNAL OF MEDICINE (2015)
Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals
Masao Nagasaki et al.
NATURE COMMUNICATIONS (2015)
Hereditary Diffuse Gastric Cancer Syndrome CDH1 Mutations and Beyond
Samantha Hansford et al.
JAMA ONCOLOGY (2015)
Prevalence and differentiation of hereditary breast and ovarian cancers in Japan
Seigo Nakamura et al.
BREAST CANCER (2015)
Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 1.2014
Mary B. Daly et al.
JOURNAL OF THE NATIONAL COMPREHENSIVE CANCER NETWORK (2014)
Current status and new features of the Consensus Coding Sequence database
Catherine M. Farrell et al.
NUCLEIC ACIDS RESEARCH (2014)
Comparative In Vitro and In Silico Analyses of Variants in Splicing Regions of BRCA1 and BRCA2 Genes and Characterization of Novel Pathogenic Mutations
Mara Colombo et al.
PLOS ONE (2013)
Significant association between Nijmegen breakage syndrome 1 657del5 polymorphism and breast cancer risk
Guofeng Zhang et al.
TUMOR BIOLOGY (2013)
A practical method to detect SNVs and indels from whole genome and exome sequencing data
Daichi Shigemizu et al.
SCIENTIFIC REPORTS (2013)
Clinical significance of large rearrangements in BRCA1 and BRCA2
Thaddeus Judkins et al.
CANCER (2012)
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
Amanda B. Spurdle et al.
HUMAN MUTATION (2012)
An integrated map of genetic variation from 1,092 human genomes
David M. Altshuler et al.
NATURE (2012)
Dominant-Negative Features of Mutant TP53 in Germline Carriers Have Limited Impact on Cancer Outcomes
Paola Monti et al.
MOLECULAR CANCER RESEARCH (2011)
A framework for variation discovery and genotyping using next-generation DNA sequencing data
Mark A. DePristo et al.
NATURE GENETICS (2011)
Fast and accurate short read alignment with Burrows-Wheeler transform
Heng Li et al.
BIOINFORMATICS (2009)
Cross-sectional analysis of germline BRCA1 and BRCA2 mutations in Japanese patients suspected to have hereditary breast/ovarian cancer
Kokichi Sugano et al.
CANCER SCIENCE (2008)
Frequency and spectrum of cancers in the Peutz-Jeghers syndrome
Nicholas Hearle et al.
CLINICAL CANCER RESEARCH (2006)
Patterns of cancer incidence, mortality, and prevalence across five continents: Defining priorities to reduce cancer disparities in different geographic regions of the world
Farin Kamangar et al.
JOURNAL OF CLINICAL ONCOLOGY (2006)
A note on exact tests of Hardy-Weinberg equilibrium
JE Wigginton et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2
K Claes et al.
GENES CHROMOSOMES & CANCER (2003)
Polygenic susceptibility to breast cancer and implications for prevention
PDP Pharoah et al.
NATURE GENETICS (2002)
Environmental and heritable factors in the causation of cancer - Analyses of cohorts of twins from Sweden, Denmark, and Finland.
P Lichtenstein et al.
NEW ENGLAND JOURNAL OF MEDICINE (2000)
Share Paper
