List of works - Kathleen Claes

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

scientific article (publication date: 2013)

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

scientific article

Polymorphisms in base-excision repair and nucleotide-excision repair genes in relation to lung cancer risk.

scientific article published on 21 April 2007

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

scientific article published on 12 January 2015

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction

scientific article

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article published on 05 August 2009

Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients

scientific article published on 01 March 2006

Rapid detection of VHL exon deletions using real-time quantitative PCR.

scientific article published in January 2005

Acute normal tissue reactions in head-and-neck cancer patients treated with IMRT: influence of dose and association with genetic polymorphisms in DNA DSB repair genes.

scientific article published on March 2009

Chromosomal radiosensitivity in breast cancer patients with a known or putative genetic predisposition

scientific article published on December 2002

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

scientific article published in December 2016

Leiden Open Variation Database of the MUTYH gene

scientific article

Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2.

scientific article published on July 2003

Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association

scientific article published on 8 September 2009

Rapid and sensitive detection of BRCA1/2 mutations in a diagnostic setting: comparison of two high-resolution melting platforms

scientific article published on 10 April 2008

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

scientific article published on 27 April 2016

A replication study confirms the association of TNFSF4 (OX40L) polymorphisms with systemic sclerosis in a large European cohort

scientific article published on 27 December 2010

Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing

scientific article

Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

Radiation-induced damage to normal tissues after radiotherapy in patients treated for gynecologic tumors: association with single nucleotide polymorphisms in XRCC1, XRCC3, and OGG1 genes and in vitro chromosomal radiosensitivity in lymphocytes.

scientific article published in July 2005

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation

scientific article published on 14 July 2015

Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations

scientific article published on 8 February 2011

The Exon 13 Duplication in the BRCA1 Gene Is a Founder Mutation Present in Geographically Diverse Populations

article

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

scientific article

A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing

scientific article

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

scientific article published on 08 June 2016

SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints.

scientific article

Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer.

scientific article published on 20 May 2008

A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancer

scientific article published on 01 January 2004

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations

scientific article published on 30 March 2015

Chromosomal radiosensitivity in BRCA1 and BRCA2 mutation carriers.

scientific article published in October 2004

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

scientific article

BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families

scientific article published on March 2004

TGFbeta1 polymorphisms and late clinical radiosensitivity in patients treated for gynecologic tumors.

scientific article published in July 2006

Pathological splice mutations outside the invariant AG/GT splice sites of BRCA1 exon 5 increase alternative transcript levels in the 5' end of the BRCA1 gene

scientific article

DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System

scientific article published on 6 May 2016

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

Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice

scientific article published on March 2015

Polymorphisms in nonhomologous end-joining genes associated with breast cancer risk and chromosomal radiosensitivity

scientific article published in February 2008

Practical tools to implement massive parallel pyrosequencing of PCR products in next generation molecular diagnostics

scientific article

Questioning the Pathogenic Role of the GLA p.Ala143Thr "Mutation" in Fabry Disease: Implications for Screening Studies and ERT

scientific article published on 29 July 2012

Polymorphisms in the lectin pathway genes as a possible cause of early chronic Pseudomonas aeruginosa colonization in cystic fibrosis patients.

scientific article published on 29 August 2012

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

scientific article published on 21 December 2017

Genotyping of frequent BRCA1/2 SNPs with unlabeled probes: a supplement to HRMCA mutation scanning, allowing the strong reduction of sequencing burden

scientific article published on 30 July 2009

BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

scientific article published on 10 March 2017

Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families

scientific article published on 13 March 2012

The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

scientific article published on 10 May 2017

Non Coding RNA Molecules as Potential Biomarkers in Breast Cancer.

scientific article published on January 2015

Mutation analysis of the BRCA1 and BRCA2 genes in the Belgian patient population and identification of a Belgian founder mutation BRCA1 IVS5 + 3A > G

scientific article

Prevalence of BRCA1/2 mutations in sporadic breast/ovarian cancer patients and identification of a novel de novo BRCA1 mutation in a patient diagnosed with late onset breast and ovarian cancer: implications for genetic testing

scientific article

List of works by Kathleen Claes

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

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

Polymorphisms in base-excision repair and nucleotide-excision repair genes in relation to lung cancer risk.

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients

Rapid detection of VHL exon deletions using real-time quantitative PCR.

Acute normal tissue reactions in head-and-neck cancer patients treated with IMRT: influence of dose and association with genetic polymorphisms in DNA DSB repair genes.

Chromosomal radiosensitivity in breast cancer patients with a known or putative genetic predisposition

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

Leiden Open Variation Database of the MUTYH gene

Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2.

Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association

Rapid and sensitive detection of BRCA1/2 mutations in a diagnostic setting: comparison of two high-resolution melting platforms

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

A replication study confirms the association of TNFSF4 (OX40L) polymorphisms with systemic sclerosis in a large European cohort

Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing

Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers

Radiation-induced damage to normal tissues after radiotherapy in patients treated for gynecologic tumors: association with single nucleotide polymorphisms in XRCC1, XRCC3, and OGG1 genes and in vitro chromosomal radiosensitivity in lymphocytes.

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation

Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations

The Exon 13 Duplication in the BRCA1 Gene Is a Founder Mutation Present in Geographically Diverse Populations

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

A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints.

Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer.

A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancer

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations

Chromosomal radiosensitivity in BRCA1 and BRCA2 mutation carriers.

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

BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families

TGFbeta1 polymorphisms and late clinical radiosensitivity in patients treated for gynecologic tumors.

Pathological splice mutations outside the invariant AG/GT splice sites of BRCA1 exon 5 increase alternative transcript levels in the 5' end of the BRCA1 gene

DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System

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

Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice

Polymorphisms in nonhomologous end-joining genes associated with breast cancer risk and chromosomal radiosensitivity

Practical tools to implement massive parallel pyrosequencing of PCR products in next generation molecular diagnostics

Questioning the Pathogenic Role of the GLA p.Ala143Thr "Mutation" in Fabry Disease: Implications for Screening Studies and ERT

Polymorphisms in the lectin pathway genes as a possible cause of early chronic Pseudomonas aeruginosa colonization in cystic fibrosis patients.

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Genotyping of frequent BRCA1/2 SNPs with unlabeled probes: a supplement to HRMCA mutation scanning, allowing the strong reduction of sequencing burden

BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families

The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

Non Coding RNA Molecules as Potential Biomarkers in Breast Cancer.

Mutation analysis of the BRCA1 and BRCA2 genes in the Belgian patient population and identification of a Belgian founder mutation BRCA1 IVS5 + 3A > G

Prevalence of BRCA1/2 mutations in sporadic breast/ovarian cancer patients and identification of a novel de novo BRCA1 mutation in a patient diagnosed with late onset breast and ovarian cancer: implications for genetic testing