Ethnic‐specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population

Human BRCA pathogenic variants were originated during recent human history

(2022) Jiaheng Li et al.   Life Science Alliance

Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants

(2022) Yukihide Momozawa et al.   JAMA Oncology

Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations

(2022) Zixin Qin et al.   Life Science Alliance

Next Generation HGVS Nomenclature Checker

(2021) Mihai Lefter et al.   BIOINFORMATICS

Comprehensive Identification of Deleterious TP53 Missense VUS Variants Based on Their Impact on TP53 Structural Stability

(2021) Benjamin Tam et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

The UCSC Genome Browser database: 2022 update

(2021) Brian T Lee et al.   NUCLEIC ACIDS RESEARCH

Familial/inherited cancer syndrome: a focus on the highly consanguineous Arab population

(2020) Fawz S. AlHarthi et al.   npj Genomic Medicine

Population Screening for Inherited Predisposition to Breast and Ovarian Cancer

(2020) Ranjit Manchanda et al.   Annual Review of Genomics and Human Genetics

Prevalence of BRCA1/BRCA2 pathogenic variation in Chinese Han population

(2020) Hui Dong et al.   JOURNAL OF MEDICAL GENETICS

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Ethnic-specific BRCA1/2 variation within Asia population: evidence from over 78 000 cancer and 40 000 non-cancer cases of Indian, Chinese, Korean and Japanese populations

(2020) Shanmuga Priya Bhaskaran et al.   JOURNAL OF MEDICAL GENETICS

Can population BRCA screening be applied in non-Ashkenazi Jewish populations? Experience in Macau population

(2020) Zixin Qin et al.   JOURNAL OF MEDICAL GENETICS

dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs

(2020) Xiaoming Liu et al.   Genome Medicine

Germline variation in BRCA1 /2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients

(2019) Shanmuga Priya Bhaskaran et al.   INTERNATIONAL JOURNAL OF CANCER

The Missing Diversity in Human Genetic Studies

(2019) Giorgio Sirugo et al.   CELL

BRCA1 and BRCA2 Pathogenic Sequence Variants in Women of African Origin or Ancestry

(2019) Tara M. Friebel et al.   HUMAN MUTATION

Genetic Testing and Results in a Population-Based Cohort of Breast Cancer Patients and Ovarian Cancer Patients

(2019) Allison W. Kurian et al.   JOURNAL OF CLINICAL ONCOLOGY

The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries

(2019) Yael Laitman et al.   HUMAN MUTATION

Poly (ADP-ribose) Polymerase Inhibition in Patients with Breast Cancer and BRCA 1 and 2 Mutations

(2019) Yolanda Jerez et al.   DRUGS

Common Genetic Variation and Breast Cancer Risk—Past, Present, and Future

(2018) Jenna Lilyquist et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

(2018) Timothy R. Rebbeck et al.   HUMAN MUTATION

Cancer genetics, precision prevention and a call to action

(2018) Clare Turnbull et al.   NATURE GENETICS

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls

(2018) Yukihide Momozawa et al.   Nature Communications

BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2

(2018) Melissa S. Cline et al.   PLoS Genetics

Inherited mutations inBRCA1andBRCA2in an unselected multiethnic cohort of Asian patients with breast cancer and healthy controls from Malaysia

(2017) Wei Xiong Wen et al.   JOURNAL OF MEDICAL GENETICS

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

(2016) Johan T. den Dunnen et al.   HUMAN MUTATION

Population Frequency of Germline BRCA1/2 Mutations

(2016) Kara N. Maxwell et al.   JOURNAL OF CLINICAL ONCOLOGY

Excavating Neandertal and Denisovan DNA from the genomes of Melanesian individuals

(2016) B. Vernot et al.   SCIENCE

The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study

(2015) Eunyoung Kang 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

Comprehensive spectrum ofBRCA1andBRCA2deleterious mutations in breast cancer in Asian countries

(2015) Ava Kwong et al.   JOURNAL OF MEDICAL GENETICS

Significant clinical impact of recurrentBRCA1andBRCA2mutations in Mexico

(2014) Cynthia Villarreal-Garza et al.   CANCER

Population-Based Screening forBRCA1andBRCA2

(2014) Mary-Claire King et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Role of BRCA1 in brain development

(2014) Gerald M. Pao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins

(2013) M. Infante et al.   CARCINOGENESIS

BRCA1 and BRCA2 mutations and female fertility

(2013) Ken R. Smith et al.   CURRENT OPINION IN OBSTETRICS & GYNECOLOGY

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

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

Recurrent BRCA1 and BRCA2 mutations in breast cancer patients of African ancestry

(2012) Jing Zhang et al.   BREAST CANCER RESEARCH AND TREATMENT

Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations

(2012) Yael Laitman et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

VennDiagram: a package for the generation of highly-customizable Venn and Euler diagrams in R

(2011) Hanbo Chen et al.   BMC BIOINFORMATICS

Population genetics of malaria resistance in humans

(2011) P W Hedrick   HEREDITY

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

A Smoothed Backbone-Dependent Rotamer Library for Proteins Derived from Adaptive Kernel Density Estimates and Regressions

(2011) Maxim V. Shapovalov et al.   STRUCTURE

On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations

(2010) Nancy Hamel et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

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

Inhibition of Poly(ADP-Ribose) Polymerase in Tumors fromBRCAMutation Carriers

(2009) Peter C. Fong et al.   NEW ENGLAND JOURNAL OF MEDICINE