Publications
RECENT PUBLICATIONS:
Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries
Ceres Fernandez-Rozadilla, Maria Timofeeva, Zhishan Chen, Philip Law, Minta Thomas, Stephanie Schmit, Virginia Díez-Obrero, Li Hsu, Juan Fernandez-Tajes, Claire Palles, Kitty Sherwood, Sarah Briggs, Victoria Svinti, Kevin Donnelly, Susan Farrington, James Blackmur, Peter Vaughan-Shaw, Xiao-ou Shu, Jirong Long, Qiuyin Cai, Xingyi Guo, Yingchang Lu, Peter Broderick, James Studd, …Ulrike Peters Show authors
Nature Genetics 55,89–99 (2023)
https://www.nature.com/articles/s41588-022-01222-9
Risk factors for eight common cancers revealed from a phenome-wide Mendelian randomisation analysis of 378,142 cases and 485,715 controls
Molly Went, Amit Sud, Charlie Mills, Abi Hyde, Richard Culliford, Philip Law, Jayaram Vijayakrishnan, Ines Gockel, Carlo Maj, Johannes Schumacher, Claire Palles, Martin Kaiser, Richard Houlston
https://www.medrxiv.org/content/10.1101/2023.02.15.23285952v1
Whole genome sequencing of 2,023 colorectal cancers reveals mutational landscapes, new driver genes and immune interactions
Alex Cornish, Andreas Gruber, Ben Kinnersley, Daniel Chubb, Anna Frangou, Giulio Caravagna, Boris Noyvert, Eszter Lakatos, Henry Wood, Claudia Arnedo-Pac, Richard Culliford, Jacob Househam, William Cross, Amit Sud, Philip Law, Maire Ni Leathlobhair, Aliah Hawari, Steve Thorn, Kitty Sherwood, Guler Gul, Juan Fernandez-Tajes, Luis Zapata, Ludmil Alexandrov, Nirupa Murugaesu, Alona Sosinsky, Jonathan Mitchell, Nuria Lopez-Bigas, Philip Quirke, David Church, Ian Tomlinson, Andrea Sottoriva, Trevor Graham, David Wedge, Richard Houlston
https://www.biorxiv.org/content/10.1101/2022.11.16.515599v1
Selected Publications:
3D Chromatin
Orlando G, Law PJ, Cornish AJ, Dobbins SE, Chubb D, Broderick P, ...; 2018; Promoter capture Hi-C-based identification of recurrent noncoding mutations in colorectal cancer. Nat Genet 50 (10), 1375-1380
Jäger R, Migliorini G, Henrion M, Kandaswamy R, Speedy HE, Heindl A, ...; 2015; Capture Hi-C identifies the chromatin interactome of colorectal cancer risk loci. Nat Commun 6 (1), 1-9
GWAS
Law PJ, Timofeeva M, Fernandez-Rozadilla C, Broderick P, Studd J, Fernandez-Tajes J, ...; 2019; Association analyses identify 31 new risk loci for colorectal cancer susceptibility. Nat Commun 10(1):2154
Atkins I, Kinnersley B, Ostrom QT, Labreche K, Il'yasova D, Armstrong GN, ...; 2019; Transcriptome-Wide Association Study Identifies New Candidate Susceptibility Genes for Glioma. Cancer Res 79(8):2065-2071
Went M, Sud A, Försti A, Halvarsson BM, Weinhold N, Kimber S, ...; 2018; Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma. Nat Commun 9(1):3707
A Sud, B Kinnersley, RS Houlston; 2017; Genome-wide association studies of cancer: current insights and future perspectives. Nat Rev Cancer 17 (11), 692-704
Melin BS, Barnholtz-Sloan JS, Wrensch MR, Johansen C, Il'yasova D, Kinnersley B, ...; 2017; Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors. Nat Genet 49(5):789-794
Wang Y, McKay JD, Rafnar T, Wang Z, Timofeeva MN, Broderick P, ...; 2014; Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer. Nat Genet 46(7):736-41
Speedy HE, Di Bernardo MC, Sava GP, Dyer MJ, Holroyd A, Wang Y, ...; 2014; A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia. Nat Genet 46(1):56-60
Dunlop MG, Dobbins SE, Farrington SM, Jones AM, Palles C, Whiffin N, ...; 2012; Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk. Nat Genet 44(7):770-6
Broderick P, Chubb D, Johnson DC, Weinhold N, Försti A, Lloyd A, ...; 2011; Common variation at 3p22.1 and 7p15.3 influences multiple myeloma risk. Nat Genet 44(1):58-61
Dobbins SE, Broderick P, Melin B, Feychting M, Johansen C, Andersson U, ...; 2011; Common variation at 10p12.31 near MLLT10 influences meningioma risk. Nat Genet 43(9):825-7
Sherborne AL, Hosking FJ, Prasad RB, Kumar R, Koehler R, Vijayakrishnan J, ...; 2010; Variation in CDKN2A at 9p21.3 influences childhood acute lymphoblastic leukemia risk. Nat Genet 42(6):492-4
Enciso-Mora V, Broderick P, Ma Y, Jarrett RF, Hjalgrim H, Hemminki K, ...; 2010; A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3). Nat Genet 42(12):1126-1130
Papaemmanuil E, Hosking FJ, Vijayakrishnan J, Price A, Olver B, Sheridan E, ...; 2009; Loci on 7p12.2, 10q21.2 and 14q11.2 are associated with risk of childhood acute lymphoblastic leukemia. Nat Genet 41(9):1006-10
Shete S, Hosking FJ, Robertson LB, Dobbins SE, Sanson M, Malmer B, ...; 2009; Genome-wide association study identifies five susceptibility loci for glioma. Nat Genet 41(8):899-904
Amos CI, Wu X, Broderick P, Gorlov IP, Gu J, Eisen T, ...; 2008; Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1. Nat Genet 40(5):616-22
Sequencing
Peyre M, Miyagishima D, Bielle F, Chapon F, Sierant M, Venot Q, ...; 2021; Somatic PIK3CA Mutations in Sporadic Cerebral Cavernous Malformations. N Engl J Med 385(11):996
Cornish AJ, Chubb D, Frangou A, Hoang PH, Kaiser M, Wedge DC, ...; 2020; Reference bias in the Illumina Isaac aligner. Bioinformatics 36 (17), 4671-4672
Labreche K, Kinnersley B, Berzero G, Di Stefano AL, Rahimian A, Detrait I, ...; 2018; Diffuse gliomas classified by 1p/19q co-deletion, TERT promoter and IDH mutation status are associated with specific genetic risk loci. Acta Neuropathol 135(5):743-755
Chubb D, Broderick P, Dobbins SE, Frampton M, Kinnersley B, Penegar S, ...; 2016; Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer; Nat Commun 7:11883
Speedy HE, Kinnersley B, Chubb D, Broderick P, Law PJ, Litchfield K, ...; 2016; Germ line mutations in shelterin complex genes are associated with familial chronic lymphocytic leukemia. Blood 128(19):2319-2326
Chubb D, Broderick P, Frampton M, Kinnersley B, Sherborne A, Penegar S, ...; 2015; Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing. J Clin Oncol 33(5):426-32
Ma Y, Dobbins SE, Sherborne AL, Chubb D, Galbiati M, Cazzaniga G, ...; 2013; Developmental timing of mutations revealed by whole-genome sequencing of twins with acute lymphoblastic leukemia. Proc Natl Acad Sci USA 110(18):7429-33
Palles C, Cazier JB, Howarth KM, Domingo E, Jones AM, Broderick P, ...; 2013; Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat Genet 45(2):136-44
Functional biology
Speedy HE, Beekman R, Chapaprieta V, Orlando G, Law PJ, Martín-García D, ...; 2019; Insight into genetic predisposition to chronic lymphocytic leukemia from integrative epigenomics. Nat Commun 10(1):3615
Studd JB, Vijayakrishnan J, Yang M, Migliorini G, Paulsson K, Houlston RS; 2018; Genetic and regulatory mechanism of susceptibility to high-hyperdiploid acute lymphoblastic leukaemia at 10q21.2; Nat Commun 6:6178
Li N, Johnson DC, Weinhold N, Studd JB, Orlando G, Mirabella F, ...; 2016; Multiple myeloma risk variant at 7p15.3 creates an IRF4-binding site and interferes with CDCA7L expression; Nat Commun 7:13656
Weinhold N, Johnson DC, Chubb D, Chen B, Försti A, Hosking FJ, ...; 2013; The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma. Nat Genet 45(5):522-525
