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List of works by Anthony Renwick

A common coding variant in CASP8 is associated with breast cancer risk

article

A genome-wide association study identifies susceptibility loci for Wilms tumor

scientific journal article

A genome-wide association study of testicular germ cell tumor

scientific article

A multicenter study of cancer incidence in CHEK2 1100delC mutation carriers

scientific article published on December 2006

ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles

scientific article

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 and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

scientific article

CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting

scientific article published on 28 July 2015

Clinical Annotation Reference Templates: a resource for consistent variant annotation

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

scientific article

Confirmation of 5p12 as a susceptibility locus for progesterone-receptor-positive, lower grade breast cancer

scientific article

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

Corrigendum: Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth

article

Corrigendum: Mutations in the transcriptional repressor REST predispose to Wilms tumor.

scientific article

Erratum: Corrigendum: A common coding variant in CASP8 is associated with breast cancer risk

scholarly article published in Nature Genetics

Evaluation of Fanconi Anemia genes in familial breast cancer predisposition

article

Evaluation ofRAD50 in familial breast cancer predisposition

Exploring the link between MORF4L1 and risk of breast cancer

scientific article

Gene-gene interactions in breast cancer susceptibility

scientific article

Genome-wide association study identifies five new breast cancer susceptibility loci

scientific article

Germline RAD51C mutations confer susceptibility to ovarian cancer

Germline mutations in RAD51D confer susceptibility to ovarian cancer

scientific article (publication date: 7 August 2011)

ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling using the ICR142 NGS validation series

article by Elise Ruark et al published 31 August 2018 in Wellcome Open Research

Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

scientific article

Multi-stage genome-wide association study identifies new susceptibility locus for testicular germ cell tumour on chromosome 3q25 ⬇️

scientific article

Mutation and association analysis of GEN1 in breast cancer susceptibility

scientific article published on 30 May 2010

Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.

scientific article published on 13 May 2015

Mutations in the transcriptional repressor REST predispose to Wilms tumor

scientific article published on 9 November 2015

OpEx - a validated, automated pipeline optimised for clinical exome sequence analysis.

scientific article published on 3 August 2016

PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene

scientific article

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

scientific article published on 8 April 2015

Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer

scientific article published on 18 April 2012

Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042.

scientific article published on 30 June 2009

The ICR1000 UK exome series: a resource of gene variation in an outbred population

scientific article published on 22 September 2015

The ICR142 NGS validation series: a resource for orthogonal assessment of NGS analysis

scientific article

The ICR639 CPG NGS validation series: A resource to assess analytical sensitivity of cancer predisposition gene testing

article

The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS data

scientific article

The Quality Sequencing Minimum (QSM): providing comprehensive, consistent, transparent next generation sequencing  data quality assurance

scientific article published on 4 April 2018

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

scientific article

Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles

article

Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer

scientific article

Whole-exome sequencing reveals the mutational spectrum of testicular germ cell tumours

scientific article

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