Professor Paul Pharoah

University of Cambridge
Department of Public Health and Primary Care
Strangeways Research Laboratory

Position: Professor
Personal home page: http://ccge.medschl.cam.ac.uk/dr-paul-pharoah/

PubMed journal articles - click here

Professor Paul Pharoah is pleased to consider applications from prospective PhD students.

Research description

I am interested in the architecture of genetic susceptibility to common cancers (primarily breast, ovarian and colorectal). I am also interested in understanding how germline genetic variation influences disease heterogeneity and heterogeneity in the clinical outcomes of cancer.

Research Programme
Ovarian Cancer
Methods and technologies
Public health
Statistical analysis
Tumour type interests
Breast
Ovary

Key publications

1. Pharoah PD, H Song, E Dicks, MP Intermaggio, P Harrington, C Baynes, K Alsop, G Australian Ovarian Cancer Study, N Bogdanova, MS Cicek, JM Cunningham, BL Fridley, A Gentry-Maharaj, P Hillemanns, S Lele, J Lester, V McGuire, KB Moysich, S Poblete, W Sieh, L Sucheston-Campbell, M Widschwendter, C Ovarian Cancer Association, AS Whittemore, T Dork, U Menon, K Odunsi, EL Goode, BY Karlan, DD Bowtell, SA Gayther, SJ Ramus (2016) Mar PPM1D Mosaic Truncating Variants in Ovarian Cancer Cases May Be Treatment-Related Somatic Mutations. J. Natl. Cancer Inst. 108. 26823519

2. Kar SP, J Beesley, A Amin Al Olama, K Michailidou, J Tyrer, Z Kote-Jarai, K Lawrenson, S Lindstrom, SJ Ramus, DJ Thompson, A Investigators, AS Kibel, A Dansonka-Mieszkowska, A Michael, AK Dieffenbach, A Gentry-Maharaj, AS Whittemore, A Wolk, A Monteiro, A Peixoto, A Kierzek, A Cox, A Rudolph, A Gonzalez-Neira, AH Wu, A Lindblom, A Swerdlow, AS Group, S Australian Cancer, A BioResource, A Ziogas, AB Ekici, B Burwinkel, BY Karlan, BG Nordestgaard, C Blomqvist, C Phelan, C McLean, CL Pearce, C Vachon, C Cybulski, C Slavov, C Stegmaier, C Maier, CB Ambrosone, CK Hogdall, CC Teerlink, D Kang, DC Tessier, DJ Schaid, DO Stram, DW Cramer, DE Neal, D Eccles, D Flesch-Janys, DR Edwards, D Wokozorczyk, DA Levine, D Yannoukakos, EJ Sawyer, EV Bandera, EM Poole, EL Goode, E Khusnutdinova, E Hogdall, F Song, F Bruinsma, F Heitz, F Modugno, FC Hamdy, F Wiklund, GG Giles, H Olsson, H Wildiers, HU Ulmer, H Pandha, HA Risch, H Darabi, HB Salvesen, H Nevanlinna, H Gronberg, H Brenner, H Brauch, H Anton-Culver, H Song, HY Lim, I McNeish, I Campbell, I Vergote, J Gronwald, J Lubinski, JL Stanford, J Benitez, JA Doherty, JB Permuth, J Chang-Claude, JL Donovan, J Dennis, JM Schildkraut, J Schleutker, JL Hopper, J Kupryjanczyk, JY Park, J Figueroa, JA Clements, JA Knight, J Peto, JM Cunningham, J Pow-Sang, J Batra, K Czene, KH Lu, K Herkommer, KT Khaw, I kConFab, K Matsuo, K Muir, K Offitt, K Chen, KB Moysich, K Aittomaki, K Odunsi, LA Kiemeney, LF Massuger, LM Fitzgerald, LS Cook, L Cannon-Albright, MJ Hooning, MC Pike, MK Bolla, M Luedeke, MR Teixeira, MT Goodman, MK Schmidt, M Riggan, M Aly, MA Rossing, MW Beckmann, M Moisse, M Sanderson, MC Southey, M Jones, M Lush, MA Hildebrandt, MF Hou, MJ Schoemaker, M Garcia-Closas, N Bogdanova, N Rahman, N Investigators, ND Le, N Orr, N Wentzensen, N Pashayan, P Peterlongo, P Guenel, P Brennan, P Paulo, PM Webb, P Broberg, PA Fasching, P Devilee, Q Wang, Q Cai, Q Li, R Kaneva, R Butzow, RK Kopperud, RK Schmutzler, RA Stephenson, RJ MacInnis, RN Hoover, R Winqvist, R Ness, RL Milne, RC Travis, S Benlloch, SH Olson, SK McDonnell, SS Tworoger, S Maia, S Berndt, SC Lee, SH Teo, SN Thibodeau, SE Bojesen, SM Gapstur, SK Kjaer, T Pejovic, TL Tammela, G Network, P consortium, T Dork, T Bruning, T Wahlfors, TJ Key, TL Edwards, U Menon, U Hamann, V Mitev, VM Kosma, VW Setiawan, V Kristensen, V Arndt, W Vogel, W Zheng, W Sieh, WJ Blot, W Kluzniak, XO Shu, YT Gao, F Schumacher, ML Freedman, A Berchuck, AM Dunning, J Simard, CA Haiman, A Spurdle, TA Sellers, DJ Hunter, BE Henderson, P Kraft, SJ Chanock, FJ Couch, P Hall, SA Gayther, DF Easton, G Chenevix-Trench, R Eeles, PD Pharoah, D Lambrechts (2016) Jul 17 Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types. Cancer Discov. 27432226

3. Ramus SJ, H Song, E Dicks, JP Tyrer, AN Rosenthal, MP Intermaggio, L Fraser, A Gentry-Maharaj, J Hayward, S Philpott, C Anderson, CK Edlund, D Conti, P Harrington, D Barrowdale, DD Bowtell, K Alsop, G Mitchell, AS Group, MS Cicek, JM Cunningham, BL Fridley, J Alsop, M Jimenez-Linan, S Poblete, S Lele, L Sucheston-Campbell, KB Moysich, W Sieh, V McGuire, J Lester, N Bogdanova, M Durst, P Hillemanns, C Ovarian Cancer Association, K Odunsi, AS Whittemore, BY Karlan, T Dork, EL Goode, U Menon, IJ Jacobs, AC Antoniou, PD Pharoah, SA Gayther (2015) Nov Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. J. Natl. Cancer Inst. 107. 26315354

4. Kuchenbaecker KB, SJ Ramus, J Tyrer, A Lee, HC Shen, J Beesley, K Lawrenson, L McGuffog, S Healey, JM Lee, TJ Spindler, YG Lin, T Pejovic, Y Bean, Q Li, S Coetzee, D Hazelett, A Miron, M Southey, MB Terry, DE Goldgar, SS Buys, R Janavicius, CM Dorfling, EJ van Rensburg, SL Neuhausen, YC Ding, TV Hansen, L Jonson, AM Gerdes, B Ejlertsen, D Barrowdale, J Dennis, J Benitez, A Osorio, MJ Garcia, I Komenaka, JN Weitzel, P Ganschow, P Peterlongo, L Bernard, A Viel, B Bonanni, B Peissel, S Manoukian, P Radice, L Papi, L Ottini, F Fostira, I Konstantopoulou, J Garber, D Frost, J Perkins, R Platte, S Ellis, Embrace, AK Godwin, RK Schmutzler, A Meindl, C Engel, C Sutter, OM Sinilnikova, GS Collaborators, F Damiola, S Mazoyer, D Stoppa-Lyonnet, K Claes, K De Leeneer, J Kirk, GC Rodriguez, M Piedmonte, DM O'Malley, M de la Hoya, T Caldes, K Aittomaki, H Nevanlinna, JM Collee, MA Rookus, JC Oosterwijk, R Breast Cancer Family, L Tihomirova, N Tung, U Hamann, C Isaccs, M Tischkowitz, EN Imyanitov, MA Caligo, IG Campbell, FB Hogervorst, Hebon, E Olah, O Diez, I Blanco, J Brunet, C Lazaro, MA Pujana, A Jakubowska, J Gronwald, J Lubinski, G Sukiennicki, RB Barkardottir, M Plante, J Simard, P Soucy, M Montagna, S Tognazzo, MR Teixeira, KC Investigators, VS Pankratz, X Wang, N Lindor, CI Szabo, N Kauff, J Vijai, CA Aghajanian, G Pfeiler, A Berger, CF Singer, MK Tea, CM Phelan, MH Greene, PL Mai, G Rennert, AM Mulligan, S Tchatchou, IL Andrulis, G Glendon, AE Toland, UB Jensen, TA Kruse, M Thomassen, A Bojesen, J Zidan, E Friedman, Y Laitman, M Soller, A Liljegren, B Arver, Z Einbeigi, M Stenmark-Askmalm, OI Olopade, RL Nussbaum, TR Rebbeck, KL Nathanson, SM Domchek, KH Lu, BY Karlan, C Walsh, J Lester, S Australian Cancer, G Australian Ovarian Cancer Study, A Hein, AB Ekici, MW Beckmann, PA Fasching, D Lambrechts, E Van Nieuwenhuysen, I Vergote, S Lambrechts, E Dicks, JA Doherty, KG Wicklund, MA Rossing, A Rudolph, J Chang-Claude, S Wang-Gohrke, U Eilber, KB Moysich, K Odunsi, L Sucheston, S Lele, LR Wilkens, MT Goodman, PJ Thompson, YB Shvetsov, IB Runnebaum, M Durst, P Hillemanns, T Dork, N Antonenkova, N Bogdanova, A Leminen, LM Pelttari, R Butzow, F Modugno, JL Kelley, RP Edwards, RB Ness, A du Bois, F Heitz, I Schwaab, P Harter, K Matsuo, S Hosono, S Orsulic, A Jensen, SK Kjaer, E Hogdall, HN Hasmad, MA Azmi, SH Teo, YL Woo, BL Fridley, EL Goode, JM Cunningham, RA Vierkant, F Bruinsma, GG Giles, D Liang, MA Hildebrandt, X Wu, DA Levine, M Bisogna, A Berchuck, ES Iversen, JM Schildkraut, P Concannon, RP Weber, DW Cramer, KL Terry, EM Poole, SS Tworoger, EV Bandera, I Orlow, SH Olson, C Krakstad, HB Salvesen, IL Tangen, L Bjorge, AM van Altena, KK Aben, LA Kiemeney, LF Massuger, M Kellar, A Brooks-Wilson, LE Kelemen, LS Cook, ND Le, C Cybulski, H Yang, J Lissowska, LA Brinton, N Wentzensen, C Hogdall, L Lundvall, L Nedergaard, H Baker, H Song, D Eccles, I McNeish, J Paul, K Carty, N Siddiqui, R Glasspool, AS Whittemore, JH Rothstein, V McGuire, W Sieh, BT Ji, W Zheng, XO Shu, YT Gao, B Rosen, HA Risch, JR McLaughlin, SA Narod, AN Monteiro, A Chen, HY Lin, J Permuth-Wey, TA Sellers, YY Tsai, Z Chen, A Ziogas, H Anton-Culver, A Gentry-Maharaj, U Menon, P Harrington, AW Lee, AH Wu, CL Pearce, G Coetzee, MC Pike, A Dansonka-Mieszkowska, A Timorek, IK Rzepecka, J Kupryjanczyk, M Freedman, H Noushmehr, DF Easton, K Offit, FJ Couch, S Gayther, PP Pharoah, AC Antoniou, G Chenevix-Trench, B Consortium of Investigators of Modifiers of, Brca (2015) Feb Identification of six new susceptibility loci for invasive epithelial ovarian cancer. Nat. Genet. 47, 164-71. 25581431

5. Guo Q, MK Schmidt, P Kraft, S Canisius, C Chen, S Khan, J Tyrer, MK Bolla, Q Wang, J Dennis, K Michailidou, M Lush, S Kar, J Beesley, AM Dunning, M Shah, K Czene, H Darabi, M Eriksson, D Lambrechts, C Weltens, K Leunen, SE Bojesen, BG Nordestgaard, SF Nielsen, H Flyger, J Chang-Claude, A Rudolph, P Seibold, D Flesch-Janys, C Blomqvist, K Aittomaki, R Fagerholm, TA Muranen, FJ Couch, JE Olson, C Vachon, IL Andrulis, JA Knight, G Glendon, AM Mulligan, A Broeks, FB Hogervorst, CA Haiman, BE Henderson, F Schumacher, L Le Marchand, JL Hopper, H Tsimiklis, C Apicella, MC Southey, A Cox, SS Cross, MW Reed, GG Giles, RL Milne, C McLean, R Winqvist, K Pylkas, A Jukkola-Vuorinen, M Grip, MJ Hooning, A Hollestelle, JW Martens, AM van den Ouweland, F Marme, A Schneeweiss, R Yang, B Burwinkel, J Figueroa, SJ Chanock, J Lissowska, EJ Sawyer, I Tomlinson, MJ Kerin, N Miller, H Brenner, AK Dieffenbach, V Arndt, B Holleczek, A Mannermaa, V Kataja, VM Kosma, JM Hartikainen, J Li, JS Brand, K Humphreys, P Devilee, RA Tollenaar, C Seynaeve, P Radice, P Peterlongo, B Bonanni, P Mariani, PA Fasching, MW Beckmann, A Hein, AB Ekici, G Chenevix-Trench, R Balleine, I kConFab, KA Phillips, J Benitez, MP Zamora, JI Arias Perez, P Menendez, A Jakubowska, J Lubinski, K Jaworska-Bieniek, K Durda, U Hamann, M Kabisch, HU Ulmer, T Rudiger, S Margolin, V Kristensen, S Nord, DG Evans, JE Abraham, HM Earl, L Hiller, JA Dunn, S Bowden, C Berg, D Campa, WR Diver, SM Gapstur, MM Gaudet, SE Hankinson, RN Hoover, A Husing, R Kaaks, MJ Machiela, W Willett, M Barrdahl, F Canzian, SF Chin, C Caldas, DJ Hunter, S Lindstrom, M Garcia-Closas, P Hall, DF Easton, DM Eccles, N Rahman, H Nevanlinna, PD Pharoah (2015) May Identification of novel genetic markers of breast cancer survival. J. Natl. Cancer Inst. 107. 25890600

6. Easton DF, PD Pharoah, AC Antoniou, M Tischkowitz, SV Tavtigian, KL Nathanson, P Devilee, A Meindl, FJ Couch, M Southey, DE Goldgar, DG Evans, G Chenevix-Trench, N Rahman, M Robson, SM Domchek, WD Foulkes (2015) Jun 4 Gene-panel sequencing and the prediction of breast-cancer risk. N. Engl. J. Med. 372, 2243-57. 26014596

7. Song H, MS Cicek, E Dicks, P Harrington, SJ Ramus, JM Cunningham, BL Fridley, JP Tyrer, J Alsop, M Jimenez-Linan, SA Gayther, EL Goode, PD Pharoah (2014) Sep 1 The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population. Hum. Mol. Genet. 23, 4703-9. 24728189

8. Pharoah PD, YY Tsai, SJ Ramus, CM Phelan, EL Goode, K Lawrenson, M Buckley, BL Fridley, JP Tyrer, H Shen, R Weber, R Karevan, MC Larson, H Song, DC Tessier, F Bacot, D Vincent, JM Cunningham, J Dennis, E Dicks, KK Aben, H Anton-Culver, N Antonenkova, SM Armasu, L Baglietto, EV Bandera, MW Beckmann, MJ Birrer, G Bloom, N Bogdanova, JD Brenton, LA Brinton, A Brooks-Wilson, R Brown, R Butzow, I Campbell, ME Carney, RS Carvalho, J Chang-Claude, YA Chen, Z Chen, WH Chow, MS Cicek, G Coetzee, LS Cook, DW Cramer, C Cybulski, A Dansonka-Mieszkowska, E Despierre, JA Doherty, T Dork, A du Bois, M Durst, D Eccles, R Edwards, AB Ekici, PA Fasching, D Fenstermacher, J Flanagan, YT Gao, M Garcia-Closas, A Gentry-Maharaj, G Giles, A Gjyshi, M Gore, J Gronwald, Q Guo, MK Halle, P Harter, A Hein, F Heitz, P Hillemanns, M Hoatlin, E Hogdall, CK Hogdall, S Hosono, A Jakubowska, A Jensen, KR Kalli, BY Karlan, LE Kelemen, LA Kiemeney, SK Kjaer, GE Konecny, C Krakstad, J Kupryjanczyk, D Lambrechts, S Lambrechts, ND Le, N Lee, J Lee, A Leminen, BK Lim, J Lissowska, J Lubinski, L Lundvall, G Lurie, LF Massuger, K Matsuo, V McGuire, JR McLaughlin, U Menon, F Modugno, KB Moysich, T Nakanishi, SA Narod, RB Ness, H Nevanlinna, S Nickels, H Noushmehr, K Odunsi, S Olson, I Orlow, J Paul, T Pejovic, LM Pelttari, J Permuth-Wey, MC Pike, EM Poole, X Qu, HA Risch, L Rodriguez-Rodriguez, MA Rossing, A Rudolph, I Runnebaum, IK Rzepecka, HB Salvesen, I Schwaab, G Severi, H Shen, V Shridhar, XO Shu, W Sieh, MC Southey, P Spellman, K Tajima, SH Teo, KL Terry, PJ Thompson, A Timorek, SS Tworoger, AM van Altena, D van den Berg, I Vergote, RA Vierkant, AF Vitonis, S Wang-Gohrke, N Wentzensen, AS Whittemore, E Wik, B Winterhoff, YL Woo, AH Wu, HP Yang, W Zheng, A Ziogas, F Zulkifli, MT Goodman, P Hall, DF Easton, CL Pearce, A Berchuck, G Chenevix-Trench, E Iversen, AN Monteiro, SA Gayther, JM Schildkraut, TA Sellers (2013) Apr GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. Nat. Genet. 45, 362-70. 23535730

9. Bolton KL, G Chenevix-Trench, C Goh, S Sadetzki, SJ Ramus, BY Karlan, D Lambrechts, E Despierre, D Barrowdale, L McGuffog, S Healey, DF Easton, O Sinilnikova, J Benitez, MJ Garcia, S Neuhausen, MH Gail, P Hartge, S Peock, D Frost, DG Evans, R Eeles, AK Godwin, MB Daly, A Kwong, ES Ma, C Lazaro, I Blanco, M Montagna, E D'Andrea, MO Nicoletto, SE Johnatty, SK Kjaer, A Jensen, E Hogdall, EL Goode, BL Fridley, JT Loud, MH Greene, PL Mai, A Chetrit, F Lubin, G Hirsh-Yechezkel, G Glendon, IL Andrulis, AE Toland, L Senter, ME Gore, C Gourley, CO Michie, H Song, J Tyrer, AS Whittemore, V McGuire, W Sieh, U Kristoffersson, H Olsson, A Borg, DA Levine, L Steele, MS Beattie, S Chan, RL Nussbaum, KB Moysich, J Gross, I Cass, C Walsh, AJ Li, R Leuchter, O Gordon, M Garcia-Closas, SA Gayther, SJ Chanock, AC Antoniou, PD Pharoah (2012) Jan 25 Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer. J.A.M.A. 307, 382-90. 22274685

10. Pharoah PD, AC Antoniou, DF Easton, BA Ponder (2008) Jun 26 Polygenes, risk prediction, and targeted prevention of breast cancer. N. Engl. J. Med. 358, 2796-803. 18579814

11. Pharoah PD, A Antoniou, M Bobrow, RL Zimmern, DF Easton, BA Ponder (2002) May Polygenic susceptibility to breast cancer and implications for prevention. Nat. Genet. 31, 33-6. 11984562

Distribution of predicted deleterious mutations in the BRIP1 (A), BARD1 (B), NBN (C), and PALB2 (D) genes identified in germline of 3,300 ovarian cancer patients and 3,300 controls. The location of each mutation is shown with respect to domains of functional significance in the translated protein and the exon structure of the coding sequence. Mutations in cases are illustrated in black; mutations in controls are in green. Also shown is where a mutation was identified in more than individual (eg, x2, x3, etc)