Lista de obras - Bryony A Thompson - Dominio Público Uruguay

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

artículo científico publicado en 2012

A review of mismatch repair gene transcripts: issues for interpretation of mRNA splicing assays

artículo científico

Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants.

artículo científico publicado en 2016

BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

scientific article published on August 2012

Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions

artículo científico publicado en 2012

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.

artículo científico

Detailed characterization of MLH1 p.D41H and p.N710D variants coexisting in a Lynch syndrome family with conserved MLH1 expression tumors.

artículo científico publicado en 2014

Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity

artículo científico publicado en 2010

Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria.

artículo científico publicado en 2017

Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis.

artículo científico publicado en 2017

FANCM c5791C>T stopgain mutation (rs144567652) is a familial colorectal cancer risk factor

artículo científico publicado en 2020

Microsatellite instability use in mismatch repair gene sequence variant classification

artículo científico publicado en 2015

Mutation deep within an intron of MSH2 causes Lynch syndrome

artículo científico publicado en 2011

Nucleosome positioning is unaltered at MLH1 splice site mutations in cells derived from Lynch syndrome patients

artículo científico publicado en 2014

Pancreatic cancer and a novel MSH2 germline alteration

artículo científico publicado en 2011

Panel sequencing of 264 candidate susceptibility genes and segregation analysis in a cohort of non-BRCA1, non-BRCA2 breast cancer families.

artículo científico publicado en 2017

Reply to J. Moline et al

artículo científico publicado en 2014

Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary

artículo científico publicado en 2011

The InSiGHT database: utilizing 100 years of insights into Lynch syndrome.

artículo científico publicado en 2013

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.

artículo científico publicado en 2013

Use of DNA-damaging agents and RNA pooling to assess expression profiles associated with BRCA1 and BRCA2 mutation status in familial breast cancer patients.

artículo científico publicado en 2010

Lista de obras de Bryony A Thompson

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

A review of mismatch repair gene transcripts: issues for interpretation of mRNA splicing assays

Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants.

BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions

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.

Detailed characterization of MLH1 p.D41H and p.N710D variants coexisting in a Lynch syndrome family with conserved MLH1 expression tumors.

Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity

Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria.

Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis.

FANCM c5791C>T stopgain mutation (rs144567652) is a familial colorectal cancer risk factor

Microsatellite instability use in mismatch repair gene sequence variant classification

Mutation deep within an intron of MSH2 causes Lynch syndrome

Nucleosome positioning is unaltered at MLH1 splice site mutations in cells derived from Lynch syndrome patients

Pancreatic cancer and a novel MSH2 germline alteration

Panel sequencing of 264 candidate susceptibility genes and segregation analysis in a cohort of non-BRCA1, non-BRCA2 breast cancer families.

Reply to J. Moline et al

Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary

The InSiGHT database: utilizing 100 years of insights into Lynch syndrome.

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.

Use of DNA-damaging agents and RNA pooling to assess expression profiles associated with BRCA1 and BRCA2 mutation status in familial breast cancer patients.