Ethnic‐specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population
Published 2022 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Ethnic‐specificity, evolution origin and deleteriousness of Asian
BRCA
variation revealed by over 7500
BRCA
variants derived from Asian population
Authors
Keywords
-
Journal
INTERNATIONAL JOURNAL OF CANCER
Volume 152, Issue 6, Pages 1159-1173
Publisher
Wiley
Online
2022-11-17
DOI
10.1002/ijc.34359
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- 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
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started