List of works - Vijai Joseph

A Germline Variant on Chromosome 4q31.1 Associates with Susceptibility to Developing Colon Cancer Metastasis

scientific article published on 11 January 2016

A Recurrent ERCC3 Truncating Mutation Confers Moderate Risk for Breast Cancer

scientific article

A genome-wide association study of marginal zone lymphoma shows association to the HLA region

scientific article

A locus for juvenile myoclonic epilepsy maps to 2q33-q36.

scientific article

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population

scientific article

A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers

scientific article

A rare TP53 mutation predominant in Ashkenazi Jews confers risk of multiple cancers

scientific article published on 16 July 2020

A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome

scientific article

A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia

scientific article

Abstract 2378: Harmonization of next generation sequencing data within consortia for gene discovery in familial breast cancer

article

Abstract 3282: Determination of cancer susceptibility in probands with breast and ovarian cancer

article published in 2014

Abstract 5071: A genome-wide association study suggests evidence of variants at 6p21.32 associated with marginal zone lymphoma

Abstract 5072: Meta-analysis of genome-wide association studies identifies novel susceptibility loci for follicular lymphoma

Abstract LB-272: Genome-wide association study identifies multiple susceptibility loci for diffuse large B-cell lymphoma

An analysis of the association between prostate cancer risk loci, PSA levels, disease aggressiveness and disease-specific mortality

scientific article

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

scientific article published on 25 April 2015

Analysis of heritability and shared heritability based on genome-wide association studies for thirteen cancer types

journal article published in 2015

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

scientific article

Assessment of SLX4 Mutations in Hereditary Breast Cancers

scientific article

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

scientific article published on 13 November 2019

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.

scientific article

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

scientific article

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

scientific article published on 31 December 2014

Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium

scientific article published on 18 August 2011

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

scientific article

COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration

scientific article published on 21 June 2013

Cancer genomics and inherited risk

scientific article published on 21 January 2014

Cancer susceptibility mutations in individuals with breast and ovarian cancer using next-generation sequencing

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

Case-control analysis identifies shared properties of rare germline variation in cancer predisposing genes

scientific article published on 04 February 2019

Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

scientific article published on 02 July 2020

Clinical Evaluation of Cisplatin Sensitivity of Germline Polymorphisms in Neoadjuvant Chemotherapy for Urothelial Cancer

scientific article published on 10 March 2016

Clinical characteristics of a South Indian cohort of juvenile myoclonic epilepsy probands

scientific article

Collaborative science in the next-generation sequencing era: a viewpoint on how to combine exome sequencing data across sites to identify novel disease susceptibility genes

scientific article

Common genetic variants and modification of penetrance of BRCA2-associated breast cancer

scientific article

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers

scientific article

Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article published on 20 February 2012

Comparison of 6q25 breast cancer hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

scientific article

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

scholarly article by Mia M Gaudet published in November 2010

Correction: Comparison of 6q25 Breast Cancer Hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

scientific article published in PLoS ONE

DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

Discovery of common and rare genetic risk variants for colorectal cancer

scientific article published on 03 December 2018

Discriminatory accuracy and potential clinical utility of genomic profiling for breast cancer risk in BRCA-negative women

scientific article published on 19 October 2010

Erratum: Author Correction: The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk

scientific article published on 7 November 2017

Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer

scientific article published on May 2016

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

scientific article

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

scientific article

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

scientific article

Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes

article

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

scientific article published on 07 January 2020

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

scientific article published on 7 September 2016

GABRG2, rs211037 is associated with epilepsy susceptibility, but not with antiepileptic drug resistance and febrile seizures.

scientific article published in November 2013

Genetic architecture of prostate cancer in the Ashkenazi Jewish population

scientific article

Genetic association analysis of ATP binding cassette protein family reveals a novel association of ABCB1 genetic variants with epilepsy risk, but not with drug-resistance

scientific article (publication date: 2014)

Genetic association analysis of KCNQ3 and juvenile myoclonic epilepsy in a South Indian population

scientific article published on 20 August 2003

Genetic overlap between autoimmune diseases and non-Hodgkin lymphoma subtypes

scientific article published on 13 August 2019

Genetic susceptibility to diffuse large B-cell lymphoma in a pooled study of three Eastern Asian populations

scientific article published on 22 January 2015

Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article

Genetic variation in DNA repair pathways and risk of non-Hodgkin's lymphoma

scientific article

Genetically Determined Height and Risk of Non-hodgkin Lymphoma

scientific article published on 01 January 2019

Genetically predicted longer telomere length is associated with increased risk of B-cell lymphoma subtypes

scientific article

Genome Sequencing of Multiple Primary Tumors Reveals a Novel PALB2 Variant

article

Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia

scientific article published on 06 February 2017

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

article

Genome-wide association studies of cancer predisposition

scientific article published on October 2010

Genome-wide association study identifies five susceptibility loci for follicular lymphoma outside the HLA region

scientific article published in October 2014

Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia

scientific journal article

Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma

scientific article

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

scientific article (publication date: 2013)

Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia

scientific article

HLA class I and II diversity contributes to the etiologic heterogeneity of non-Hodgkin lymphoma subtypes.

scientific article

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

scientific article

High-depth whole genome sequencing of a large population-specific reference panel: Enhancing sensitivity, accuracy, and imputation

High-depth whole genome sequencing of an Ashkenazi Jewish reference panel: enhancing sensitivity, accuracy, and imputation.

scientific article published on 28 April 2018

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

scientific article

Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk

scientific article published on 27 March 2013

Identification of a novel susceptibility locus at 13q34 and refinement of the 20p12.2 region as a multi-signal locus associated with bladder cancer risk in individuals of European ancestry

scientific article published on 4 January 2016

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

scientific article

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

scientific article published on 12 January 2015

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

scientific article published on 23 October 2017

Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer

scientific article published on 06 July 2016

Inherited Germline Cancer Susceptibility Gene Variants in Individuals with Non–Muscle-Invasive Bladder Cancer

scientific article published in 2022

Inherited mutations in breast cancer patients with and without multiple primary cancers

Integrative clinical genomics of metastatic cancer

scientific article published on 2 August 2017

Lipid Trait Variants and the Risk of Non-Hodgkin Lymphoma Subtypes: A Mendelian Randomization Study

scientific article published on 27 February 2020

Lupus-related single nucleotide polymorphisms and risk of diffuse large B-cell lymphoma

scientific article

Major vault protein (MVP) gene polymorphisms and drug resistance in mesial temporal lobe epilepsy with hippocampal sclerosis ⬇️

scientific article published on June 7, 2013

Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.

scientific article

Mendelian randomisation study of smoking exposure in relation to breast cancer risk

scientific article published in October 2021

Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia

scientific article published on 9 March 2016

Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

scientific article published on 15 February 2018

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

scientific article published in May 2015

Novel Common Genetic Susceptibility Loci for Colorectal Cancer

scientific article published on 01 February 2019

Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

scientific article

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

scientific article

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

scientific article published on 15 July 2020

Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores

scientific article

Prediction of breast cancer risk based on profiling with common genetic variants

scientific article published on 8 April 2015

Prevalence of BRCA1 and BRCA2 mutations in Ashkenazi Jewish families with breast and pancreatic cancer

scientific article published on 19 May 2011

Prevalence of HOXB13 mutation in a population of Ashkenazi Jewish men treated for prostate cancer

scientific article published on December 2013

Rare de novo germline copy-number variation in testicular cancer

scientific article published on 2 August 2012

Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia

scientific article

Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins

scientific article

Susceptibility loci associated with prostate cancer progression and mortality

scientific article published on 11 May 2010

Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies

scientific journal article

The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk

scientific article

Tissue-Specific Enrichment of Lymphoma Risk Loci in Regulatory Elements

scientific article published on 30 September 2015

Toward automation of germline variant curation in clinical cancer genetics

scientific article published on 21 February 2019

Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

scientific article published on 01 March 2020

Two high-risk susceptibility loci at 6p25.3 and 14q32.13 for Waldenström macroglobulinemia

scientific article published in Nature Communications

Two truncating variants in FANCC and breast cancer risk

scientific article published on 29 August 2019

Variants at IRX4 as prostate cancer expression quantitative trait loci

scientific article published on 11 September 2013

List of works by Vijai Joseph

A Germline Variant on Chromosome 4q31.1 Associates with Susceptibility to Developing Colon Cancer Metastasis

A Recurrent ERCC3 Truncating Mutation Confers Moderate Risk for Breast Cancer

A genome-wide association study of marginal zone lymphoma shows association to the HLA region

A locus for juvenile myoclonic epilepsy maps to 2q33-q36.

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population

A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers

A rare TP53 mutation predominant in Ashkenazi Jews confers risk of multiple cancers

A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome

A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia

Abstract 2378: Harmonization of next generation sequencing data within consortia for gene discovery in familial breast cancer

Abstract 3282: Determination of cancer susceptibility in probands with breast and ovarian cancer

Abstract 5071: A genome-wide association study suggests evidence of variants at 6p21.32 associated with marginal zone lymphoma

Abstract 5072: Meta-analysis of genome-wide association studies identifies novel susceptibility loci for follicular lymphoma

Abstract LB-272: Genome-wide association study identifies multiple susceptibility loci for diffuse large B-cell lymphoma

An analysis of the association between prostate cancer risk loci, PSA levels, disease aggressiveness and disease-specific mortality

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

Analysis of heritability and shared heritability based on genome-wide association studies for thirteen cancer types

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

Assessment of SLX4 Mutations in Hereditary Breast Cancers

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration

Cancer genomics and inherited risk

Cancer susceptibility mutations in individuals with breast and ovarian cancer using next-generation sequencing

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

Case-control analysis identifies shared properties of rare germline variation in cancer predisposing genes

Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

Clinical Evaluation of Cisplatin Sensitivity of Germline Polymorphisms in Neoadjuvant Chemotherapy for Urothelial Cancer

Clinical characteristics of a South Indian cohort of juvenile myoclonic epilepsy probands

Collaborative science in the next-generation sequencing era: a viewpoint on how to combine exome sequencing data across sites to identify novel disease susceptibility genes

Common genetic variants and modification of penetrance of BRCA2-associated breast cancer

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers

Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

Comparison of 6q25 breast cancer hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

Correction: Comparison of 6q25 Breast Cancer Hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers

Discovery of common and rare genetic risk variants for colorectal cancer

Discriminatory accuracy and potential clinical utility of genomic profiling for breast cancer risk in BRCA-negative women

Erratum: Author Correction: The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk

Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

GABRG2, rs211037 is associated with epilepsy susceptibility, but not with antiepileptic drug resistance and febrile seizures.

Genetic architecture of prostate cancer in the Ashkenazi Jewish population

Genetic association analysis of ATP binding cassette protein family reveals a novel association of ABCB1 genetic variants with epilepsy risk, but not with drug-resistance

Genetic association analysis of KCNQ3 and juvenile myoclonic epilepsy in a South Indian population

Genetic overlap between autoimmune diseases and non-Hodgkin lymphoma subtypes

Genetic susceptibility to diffuse large B-cell lymphoma in a pooled study of three Eastern Asian populations

Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers

Genetic variation in DNA repair pathways and risk of non-Hodgkin's lymphoma

Genetically Determined Height and Risk of Non-hodgkin Lymphoma

Genetically predicted longer telomere length is associated with increased risk of B-cell lymphoma subtypes

Genome Sequencing of Multiple Primary Tumors Reveals a Novel PALB2 Variant

Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

Genome-wide association studies of cancer predisposition

Genome-wide association study identifies five susceptibility loci for follicular lymphoma outside the HLA region

Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia

Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia

HLA class I and II diversity contributes to the etiologic heterogeneity of non-Hodgkin lymphoma subtypes.

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

High-depth whole genome sequencing of a large population-specific reference panel: Enhancing sensitivity, accuracy, and imputation

High-depth whole genome sequencing of an Ashkenazi Jewish reference panel: enhancing sensitivity, accuracy, and imputation.

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk

Identification of a novel susceptibility locus at 13q34 and refinement of the 20p12.2 region as a multi-signal locus associated with bladder cancer risk in individuals of European ancestry

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

Identification of six new susceptibility loci for invasive epithelial ovarian cancer