Paul Pharoah
University of Cambridge
H-index: 160
Europe-United Kingdom
Description
Paul Pharoah, With an exceptional h-index of 160 and a recent h-index of 99 (since 2020), a distinguished researcher at University of Cambridge, specializes in the field of Cancer, genetics, public health.
His recent articles reflect a diverse array of research interests and contributions to the field:
Exome sequencing identifies HELB as a novel susceptibility gene for non-mucinous, non-high-grade-serous epithelial ovarian cancer
Allometric versus traditional body-shape indices and risk of colorectal cancer: a Mendelian randomization analysis
Fine-mapping analysis including over 254,000 East Asian and European descendants identifies 136 putative colorectal cancer susceptibility genes
Differences in polygenic score distributions in European ancestry populations: implications for breast cancer risk prediction
Expression of transglutaminase-2 (TGM2) in the prognosis of female invasive breast cancer
Abstract A004: Patterns of lncRNA-regulated gene expression in high-grade serous ovarian carcinomas
Risks of second primary cancers among 584,965 female and male breast cancer survivors in England: a 25-year retrospective cohort study
Novel breast cancer susceptibility loci under linkage peaks identified in African ancestry consortia
Professor Information
University | University of Cambridge |
---|---|
Position | ___ |
Citations(all) | 109209 |
Citations(since 2020) | 46821 |
Cited By | 82602 |
hIndex(all) | 160 |
hIndex(since 2020) | 99 |
i10Index(all) | 729 |
i10Index(since 2020) | 581 |
University Profile Page | University of Cambridge |
Research & Interests List
Cancer
genetics
public health
Top articles of Paul Pharoah
Exome sequencing identifies HELB as a novel susceptibility gene for non-mucinous, non-high-grade-serous epithelial ovarian cancer
Rare, germline loss-of-function variants in a handful of genes that encode DNA repair proteins have been shown to be associated with epithelial ovarian cancer with a stronger association for the high-grade serous hiostotype. The aim of this study was to collate exome sequencing data from multiple epithelial ovarian cancer case cohorts and controls in order to systematically evaluate the role of coding, loss-of-function variants across the genome in epithelial ovarian cancer risk. We assembled exome data for a total of 2,573 non-mucinous cases (1,876 high-grade serous and 697 non-high grade serous) and 13,925 controls. Harmonised variant calling and quality control filtering was applied across the different data sets. We carried out a gene-by-gene simple burden test for association of rare loss-of-function variants (minor allele frequency < 0.1%) with all non-mucinous ovarian cancer, high grade serous ovarian cancer and non-high grade serous ovarian cancer using logistic regression adjusted for the top four principal components to account for cryptic population structure and genetic ancestry. Seven of the top 10 associated genes were associations of the known ovarian cancer susceptibility genes BRCA1, BRCA2, BRIP1, RAD51C, RAD51D, MSH6 and PALB2 (false discovery probability < 0.1). A further four genes (HELB, OR2T35, NBN and MYO1A) had a false discovery rate of less than 0.1. Of these, HELB was most strongly associated with the non-high grade serous histotype (P = 1.3x10-6, FDR = 9.1x10-4). Further support for this association comes from the observation that loss of function variants in this gene are also associated …
Authors
Ed M Dicks,Jonthan P Tyrer,Suzana Ezquina,Michelle Jones,John Baierl,Pei-Chen Peng,Michael Diaz,Ellen Goode,Stacey J Winham,Thilo Doerk,Toon Van Gorp,Anna De Fazio,David Bowtell,Kunle Odunsi,Kirsten Moysich,Marina Pavanello,Ian Campbell,James D Brenton,Susan J Ramus,Simon A Gayther,Paul DP Pharoah
Journal
medRxiv
Published Date
2024
Allometric versus traditional body-shape indices and risk of colorectal cancer: a Mendelian randomization analysis
BackgroundTraditional body-shape indices such as Waist Circumference (WC), Hip Circumference (HC), and Waist-to-Hip Ratio (WHR) are associated with colorectal cancer (CRC) risk, but are correlated with Body Mass Index (BMI), and adjustment for BMI introduces a strong correlation with height. Thus, new allometric indices have been developed, namely A Body Shape Index (ABSI), Hip Index (HI), and Waist-to-Hip Index (WHI), which are uncorrelated with weight and height; these have also been associated with CRC risk in observational studies, but information from Mendelian randomization (MR) studies is missing.MethodsWe used two-sample MR to examine potential causal cancer site- and sex-specific associations of the genetically-predicted allometric body-shape indices with CRC risk, and compared them with BMI-adjusted traditional body-shape indices, and BMI. Data were obtained from UK Biobank …
Authors
Marina O Rontogianni,Emmanouil Bouras,Elom Kouassivi Aglago,Heinz Freisling,Neil Murphy,Michelle Cotterchio,Jochen Hampe,Annika Lindblom,Rish K Pai,Paul DP Pharoah,Amanda I Phipps,Franzel JB van Duijnhoven,Kala Visvanathan,Bethany van Guelpen,Christopher I Li,Hermann Brenner,Andrew J Pellatt,Shuji Ogino,Marc J Gunter,Ulrike Peters,Sofia Christakoudi,Konstantinos K Tsilidis
Journal
International Journal of Obesity
Published Date
2024/1/31
Fine-mapping analysis including over 254,000 East Asian and European descendants identifies 136 putative colorectal cancer susceptibility genes
Genome-wide association studies (GWAS) have identified more than 200 common genetic variants independently associated with colorectal cancer (CRC) risk, but the causal variants and target genes are mostly unknown. We sought to fine-map all known CRC risk loci using GWAS data from 100,204 cases and 154,587 controls of East Asian and European ancestry. Our stepwise conditional analyses revealed 238 independent association signals of CRC risk, each with a set of credible causal variants (CCVs), of which 28 signals had a single CCV. Our cis-eQTL/mQTL and colocalization analyses using colorectal tissue-specific transcriptome and methylome data separately from 1299 and 321 individuals, along with functional genomic investigation, uncovered 136 putative CRC susceptibility genes, including 56 genes not previously reported. Analyses of single-cell RNA-seq data from colorectal tissues revealed 17 …
Authors
Zhishan Chen,Xingyi Guo,Ran Tao,Jeroen R Huyghe,Philip J Law,Ceres Fernandez-Rozadilla,Jie Ping,Guochong Jia,Jirong Long,Chao Li,Quanhu Shen,Yuhan Xie,Maria N Timofeeva,Minta Thomas,Stephanie L Schmit,Virginia Díez-Obrero,Matthew Devall,Ferran Moratalla-Navarro,Juan Fernandez-Tajes,Claire Palles,Kitty Sherwood,Sarah EW Briggs,Victoria Svinti,Kevin Donnelly,Susan M Farrington,James Blackmur,Peter G Vaughan-Shaw,Xiao-Ou Shu,Yingchang Lu,Peter Broderick,James Studd,Tabitha A Harrison,David V Conti,Fredrick R Schumacher,Marilena Melas,Gad Rennert,Mireia Obón-Santacana,Vicente Martín-Sánchez,Jae Hwan Oh,Jeongseon Kim,Sun Ha Jee,Keum Ji Jung,Sun-Seog Kweon,Min-Ho Shin,Aesun Shin,Yoon-Ok Ahn,Dong-Hyun Kim,Isao Oze,Wanqing Wen,Keitaro Matsuo,Koichi Matsuda,Chizu Tanikawa,Zefang Ren,Yu-Tang Gao,Wei-Hua Jia,John L Hopper,Mark A Jenkins,Aung Ko Win,Rish K Pai,Jane C Figueiredo,Robert W Haile,Steven Gallinger,Michael O Woods,Polly A Newcomb,David Duggan,Jeremy P Cheadle,Richard Kaplan,Rachel Kerr,David Kerr,Iva Kirac,Jan Böhm,Jukka-Pekka Mecklin,Pekka Jousilahti,Paul Knekt,Lauri A Aaltonen,Harri Rissanen,Eero Pukkala,Johan G Eriksson,Tatiana Cajuso,Ulrika Hänninen,Johanna Kondelin,Kimmo Palin,Tomas Tanskanen,Laura Renkonen-Sinisalo,Satu Männistö,Demetrius Albanes,Stephanie J Weinstein,Edward Ruiz-Narvaez,Julie R Palmer,Daniel D Buchanan,Elizabeth A Platz,Kala Visvanathan,Cornelia M Ulrich,Erin Siegel,Stefanie Brezina,Andrea Gsur,Peter T Campbell,Jenny Chang-Claude,Michael Hoffmeister,Hermann Brenner,Martha L Slattery,John D Potter,Kostas K Tsilidis,Matthias B Schulze,Marc J Gunter,Neil Murphy,Antoni Castells,Sergi Castellví-Bel,Leticia Moreira,Volker Arndt,Anna Shcherbina,D Timothy Bishop,Graham G Giles,Melissa C Southey,Gregory E Idos,Kevin J McDonnell,Zomoroda Abu-Ful,Joel K Greenson,Katerina Shulman,Flavio Lejbkowicz,Kenneth Offit,Yu-Ru Su,Robert Steinfelder,Temitope O Keku,Bethany van Guelpen,Thomas J Hudson,Heather Hampel,Rachel Pearlman,Sonja I Berndt,Richard B Hayes,Marie Elena Martinez,Sushma S Thomas,Paul DP Pharoah,Susanna C Larsson,Yun Yen,Heinz-Josef Lenz,Emily White,Li Li,Kimberly F Doheny,Elizabeth Pugh,Tameka Shelford,Andrew T Chan,Marcia Cruz-Correa,Annika Lindblom,David J Hunter,Amit D Joshi,Clemens Schafmayer,Peter C Scacheri,Anshul Kundaje,Robert E Schoen
Journal
Nature Communications
Published Date
2024/4/26
Differences in polygenic score distributions in European ancestry populations: implications for breast cancer risk prediction
The 313-variant polygenic risk score (PRS313) provides a promising tool for breast cancer risk prediction. However, evaluation of the PRS313 across different European populations which could influence risk estimation has not been performed. Here, we explored the distribution of PRS313 across European populations using genotype data from 94,072 females without breast cancer, of European-ancestry from 21 countries participating in the Breast Cancer Association Consortium (BCAC) and 225,105 female participants from the UK Biobank. The mean PRS313 differed markedly across European countries, being highest in south-eastern Europe and lowest in north-western Europe. Using the overall European PRS313 distribution to categorise individuals leads to overestimation and underestimation of risk in some individuals from south-eastern and north-western countries, respectively. Adjustment for principal components explained most of the observed heterogeneity in mean PRS. Country-specific PRS distributions may be used to calibrate risk categories in individuals from different countries.
Authors
Kristia Yiangou,Nasim Mavaddat,Joe Dennis,Maria Zanti,Qin Wang,Manjeet K Bolla,Mustapha Abubakar,Thomas U Ahearn,Irene L Andrulis,Hoda Anton-Culver,Natalia N Antonenkova,Volker Arndt,Kristan J Aronson,Annelie Augustinsson,Adinda Baten,Sabine Behrens,Marina Bermisheva,Amy Berrington de Gonzalez,Katarzyna Bialkowska,Nicholas Boddicker,Clara Bodelon,Natalia V Bogdanova,Stig E Bojesen,Kristen D Brantley,Hiltrud Brauch,Hermann Brenner,Nicola J Camp,Federico Canzian,Jose E Castelao,Melissa H Cessna,Jenny Chang-Claude,Georgia Chenevix-Trench,Wendy K Chung,NBCS Collaborators,Sarah V Colonna,Fergus J Couch,Angela Cox,Simon S Cross,Kamila Czene,Mary B Daly,Peter Devilee,Thilo Dork,Alison M Dunning,Diana M Eccles,A Heather Eliassen,Christoph Engel,Mikael Eriksson,D Gareth Evans,Peter A Fasching,Olivia Fletcher,Henrik Flyger,Lin Fritschi,Manuela Gago-Dominguez,Aleksandra Gentry-Maharaj,Anna Gonzalez-Neira,Pascal Guenel,Eric Hahnen,Christopher A Haiman,Ute Hamann,Jaana M Hartikainen,Vikki Ho,James Hodge,Antoinette Hollestelle,Ellen Honisch,Maartje J Hooning,Reiner Hoppe,John L Hopper,Sacha Howell,Anthony Howell,ABCTB Investigators,kConFab Investigators,Simona Jakovchevska,Anna Jakubowska,Helena Jernstrom,Nichola Johnson,Rudolf Kaaks,Elza K Khusnutdinova,Cari M Kitahara,Stella Koutros,Vessela N Kristensen,James V Lacey,Diether Lambrechts,Flavio Lejbkowicz,Annika Lindblom,Michael Lush,Arto Mannermaa,Dimitrios Mavroudis,Usha Menon,Rachel A Murphy,Heli Nevanlinna,Nadia Obi,Kenneth Offit,Tjoung-Won Park-Simon,Alpa V Patel,Cheng Peng,Paolo Peterlongo,Guillermo Pita,Dijana Plaseska-Karanfilska,Katri Pylkas,Paolo Radice,Muhammad U Rashid,Gad Rennert,Eleanor Roberts,Juan Rodriguez,Atocha Romero,Efraim H Rosenberg,Emmanouil Saloustros,Dale P Sandler,Elinor J Sawyer,Rita K Schmutzler,Christopher G Scott,Xiao-Ou Shu,Melissa C Southey,Jennifer Stone,Jack A Taylor,Lauren R Teras,Irma van de Beek,Walter Willett,Robert Winqvist,Wei Zheng,Celine M Vachon,Marjanka K Schmidt,Per Hall,Robert J MacInnis,Roger L Milne,Paul DP Pharoah,Jacques Simard,Antonis C Antoniou,Douglas F Easton,Kyriaki Michailidou
Journal
medRxiv
Published Date
2024
Expression of transglutaminase-2 (TGM2) in the prognosis of female invasive breast cancer
BackgroundTransglutaminase 2 (TGM2) is a protein expressed in several isoforms in both intra- and extra-cellular tissue compartments. It has multiple functions that are important in cancer biology and several small studies have suggested expression of TGM2 in breast cancers is associated with a poorer prognosis. The aim of this study was to evaluate the role of intra-cellular and extra-cellular TGM2 expression in breast cancer and to determine whether there were any differences by hormone receptor status.MethodsWe carried out TGM2 immunostaining of tissue micro-arrays comprising 2169 tumour cores and scored these for both intra- and extra-cellular and expression.ResultsIntra-cellular (tumour cell) TGM2 positivity was associated with a better prognosis (HR = 0.74, 95% CI 0.59–0.92) with a larger effect stronger in hormone-receptor-negative cases (HR = 0.56, 95% CI 0.37–0.85). Extra-cellular (stromal …
Authors
Fiona M Blows,H Raza Ali,Wei Cope,Paul DP Pharoah,Claire VS Pike,Elena Provenzano,Peter Coussons
Journal
BJC Reports
Published Date
2024/1/24
Abstract A004: Patterns of lncRNA-regulated gene expression in high-grade serous ovarian carcinomas
Introduction: Identifying dysregulated gene expression in ovarian cancers has been limited by a deficit of available normal tissues. Here, we generated the largest set of high-grade serous ovarian cancer (HGSOC) tumors with normal precursor tissues for transcriptome analyses to identify lncRNA expression patterns, provide insight into their cellular contexts and functions, and assess their relevance to HGSOC pathogenesis and genetic susceptibility. Methods: We performed RNA sequencing on 220 primary HGSOCs and 116 benign epithelia (micro-dissected fallopian tube, ovarian surface, and inclusion cyst epithelia), and combined samples with 428 HGSOCs from TCGA, 60 HGSOCs from a prior study, and 180 bulk ovary tissues from GTEx. Reads were processed with a uniform bioinformatic and quality control pipeline, combined and batch corrected. Normalized TPM expression values were compared using …
Authors
Brett M Reid,Ann Chen,Zhihua Chen,Florian A Karreth,Peter Kanetsky,Jennifer B Permuth,Ozlen Saglam,Jamie K Teer,Xiaoqing Yu,Simon Gayther,Ellen Goode,Paul Pharoah,Thomas A Sellers,Kate Lawrenson,Jonathan Tyrer
Journal
Cancer Research
Published Date
2024/3/4
Risks of second primary cancers among 584,965 female and male breast cancer survivors in England: a 25-year retrospective cohort study
BackgroundSecond primary cancers (SPCs) after breast cancer (BC) present an increasing public health burden, with little existing research on socio-demographic, tumour, and treatment effects. We addressed this in the largest BC survivor cohort to date, using a novel linkage of National Disease Registration Service datasets.MethodsThe cohort included 581,403 female and 3562 male BC survivors diagnosed between 1995 and 2019. We estimated standardized incidence ratios (SIRs) for combined and site-specific SPCs using incidences for England, overall and by age at BC and socioeconomic status. We estimated incidences and Kaplan–Meier cumulative risks stratified by age at BC, and assessed risk variation by socio-demographic, tumour, and treatment characteristics using Cox regression.FindingsBoth genders were at elevated contralateral breast (SIR: 2.02 (95% CI: 1.99–2.06) females; 55.4 (35.5–82.4 …
Authors
Isaac Allen,Hend Hassan,Walburga Yvonne Joko-Fru,Catherine Huntley,Lucy Loong,Tameera Rahman,Bethany Torr,Andrew Bacon,Craig Knott,Sophie Jose,Sally Vernon,Margreet Lüchtenborg,Joanna Pethick,Katrina Lavelle,Fiona McRonald,Diana Eccles,Eva JA Morris,Steven Hardy,Clare Turnbull,Marc Tischkowitz,Paul Pharoah,Antonis C Antoniou
Journal
The Lancet Regional Health–Europe
Published Date
2024/3/27
Novel breast cancer susceptibility loci under linkage peaks identified in African ancestry consortia
Background Expansion of genome-wide association studies across population groups is needed to improve our understanding of shared and unique genetic contributions to breast cancer. We performed association and replication studies guided by a priori linkage findings from African ancestry (AA) relative pairs. Methods We performed fixed-effect inverse-variance weighted meta-analysis under three significant AA breast cancer linkage peaks (3q26-27, 12q22-23, and 16q21-22) in 9241 AA cases and 10 193 AA controls. We examined associations with overall breast cancer as well as estrogen receptor (ER)-positive and negative subtypes (193,132 SNPs). We replicated associations in the African-ancestry Breast Cancer Genetic Consortium (AABCG). Results In AA women, we identified two associations on chr12q for overall breast cancer (rs1420647 …
Authors
Heather M Ochs-Balcom,Leah Preus,Zhaohui Du,Robert C Elston,Craig C Teerlink,Guochong Jia,Xingyi Guo,Qiuyin Cai,Jirong Long,Jie Ping,Bingshan Li,Daniel O Stram,Xiao-Ou Shu,Maureen Sanderson,Guimin Gao,Thomas Ahearn,Kathryn L Lunetta,Gary Zirpoli,Melissa A Troester,Edward A Ruiz-Narváez,Stephen A Haddad,Jonine Figueroa,Esther M John,Leslie Bernstein,Jennifer J Hu,Regina G Ziegler,Sarah Nyante,Elisa V Bandera,Sue A Ingles,Nicholas Mancuso,Michael F Press,Sandra L Deming,Jorge L Rodriguez-Gil,Song Yao,Temidayo O Ogundiran,Oladosu Ojengbede,Manjeet K Bolla,Joe Dennis,Alison M Dunning,Douglas F Easton,Kyriaki Michailidou,Paul DP Pharoah,Dale P Sandler,Jack A Taylor,Qin Wang,Katie M O’Brien,Clarice R Weinberg,Cari M Kitahara,William Blot,Katherine L Nathanson,Anselm Hennis,Barbara Nemesure,Stefan Ambs,Lara E Sucheston-Campbell,Jeannette T Bensen,Stephen J Chanock,Andrew F Olshan,Christine B Ambrosone,Olufunmilayo I Olopade,Ghana Breast Health Study Team,David V Conti,Julie Palmer,Montserrat García-Closas,Dezheng Huo,Wei Zheng,Christopher Haiman
Journal
Human molecular genetics
Published Date
2024/1/23
Professor FAQs
What is Paul Pharoah's h-index at University of Cambridge?
The h-index of Paul Pharoah has been 99 since 2020 and 160 in total.
What are Paul Pharoah's top articles?
The articles with the titles of
Exome sequencing identifies HELB as a novel susceptibility gene for non-mucinous, non-high-grade-serous epithelial ovarian cancer
Allometric versus traditional body-shape indices and risk of colorectal cancer: a Mendelian randomization analysis
Fine-mapping analysis including over 254,000 East Asian and European descendants identifies 136 putative colorectal cancer susceptibility genes
Differences in polygenic score distributions in European ancestry populations: implications for breast cancer risk prediction
Expression of transglutaminase-2 (TGM2) in the prognosis of female invasive breast cancer
Abstract A004: Patterns of lncRNA-regulated gene expression in high-grade serous ovarian carcinomas
Risks of second primary cancers among 584,965 female and male breast cancer survivors in England: a 25-year retrospective cohort study
Novel breast cancer susceptibility loci under linkage peaks identified in African ancestry consortia
...
are the top articles of Paul Pharoah at University of Cambridge.
What are Paul Pharoah's research interests?
The research interests of Paul Pharoah are: Cancer, genetics, public health
What is Paul Pharoah's total number of citations?
Paul Pharoah has 109,209 citations in total.
What are the co-authors of Paul Pharoah?
The co-authors of Paul Pharoah are Douglas Easton, Paolo Boffetta, Reza Malekzadeh M.D, Carlos Caldas, Alison M Dunning, Diana Eccles.