List of works - Michael Parsons

A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry

scientific article published on 11 October 2012

Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants

scientific article published on 23 August 2019

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

scientific article published on 13 November 2019

Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer

scientific article published on 10 September 2020

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

scientific article published on 26 December 2018

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

scientific article published on 03 July 2019

Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines

scholarly article

Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort

scientific article published on 19 December 2019

Colorectal tumour BRAF V600E and MLH1 promoter methylation status in the assessment of mismatch repair gene sequence variants of unknown clinical significance.

scientific article published on 12 April 2012

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

scientific article published on 23 March 2016

Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity

scientific article

Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour features for MMR variant classification.

scientific article published on March 2012

Estimation of probabilities in favour of pathogenicity for missense substitutions for use in clinical evaluation of mismatch repair gene variants

article

Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers

scientific article published on February 2017

Federated analysis of BRCA1 and BRCA2 variation in a Japanese cohort

scientific article published on 09 March 2022

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

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

scientific article published on 18 May 2020

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

scientific article published in Nature Communications

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

scientific article published on 01 September 2019

Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation

scientific article published on 28 January 2014

Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples

scientific article published on 8 April 2016

Publisher Correction: Shared heritability and functional enrichment across six solid cancers

scientific article published on 23 September 2019

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

Reply to J. Moline et al

scientific article published on 09 June 2014

Shared heritability and functional enrichment across six solid cancers

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

scientific article published on 26 July 2019

Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report

scientific article published on 08 April 2019

Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.

scientific article

List of works by Michael Parsons

A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry

Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants

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

Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer

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

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

Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines

Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort

Colorectal tumour BRAF V600E and MLH1 promoter methylation status in the assessment of mismatch repair gene sequence variants of unknown clinical significance.

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity

Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour features for MMR variant classification.

Estimation of probabilities in favour of pathogenicity for missense substitutions for use in clinical evaluation of mismatch repair gene variants

Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers

Federated analysis of BRCA1 and BRCA2 variation in a Japanese cohort

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

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

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

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation

Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples

Publisher Correction: Shared heritability and functional enrichment across six solid cancers

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

Reply to J. Moline et al

Shared heritability and functional enrichment across six solid cancers

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

Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report

Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.