Dr Claire Palles BSc, PhD

Dr Claire Palles

Institute of Cancer and Genomic Sciences
Birmingham Fellow

Contact details

Institute of Cancer and Genomic Sciences
Institute of Biomedical Research
University of Birmingham
B15 2TT

Claire Palles was appointed as a Birmingham Fellow in October 2017.  Her laboratory studies genetic predisposition to gastrointestinal cancers with a focus on discovery and characterisation of:

1)    Genetic variants associated with oesophageal adenocarcinoma and its precursor Barrett’s oesophagus

2)     Genetic variants associated with colorectal cancer and its precursor tumours. 

3)    Genetic variants that are associated with serious adverse events following treatment with chemotherapeutic agents

Claire has led the analysis of genome wide association studies to identify common genetic variants associated with colorectal cancer, Barrett’s oesophagus and toxicity adverse events following treatment with chemotherapeutics used to treat solid tumours.  Her lab aims to use publically available “big data” generated by projects such as The Cancer Genome Atlas and UKBiobank to understand genetic causes of gastrointestinal cancers.  Through close collaboration with clinicians at the Queen Elizabeth hospital, Birmingham Clinical Trials Unit and Human Biomaterials Resource Centre in Birmingham the group will also establish blood and tissue collections of their own, which will allow them to fine map association signals to genes and causal variants.  This work aims to identify new genes involved in gastrointestinal cancer predisposition and to use this knowledge to:

1)    develop better models of disease

2)    inform prevention strategies

3)    develop and test  new targeted therapies

Claire has currently authored over 30 scientific papers. She is keen to expand her group and make further contributions to prevent cancer and improve the delivery of therapeutics.


PhD: Identification of genetic variants in the Insulin like growth factor (IGF) pathway and their contribution to breast cancer risk (London School of Hygiene and Tropical Medicine and Breakthrough Breast Cancer Centre, Institute of Cancer Research, UK 2009)

BSc in Biological Sciences, first class honours (Warwick University, UK 2003).


Claire undertook her PhD studies at the Institute of Cancer Research London and in 2010 joined Professor Ian Tomlinson’s group in Oxford as a post-doctoral researcher.  Her key achievements during her time as a post doc were:  identifying the first genetic variants associated with risk of Barrett’s oesophagus at genome wide significance, identifying common genetic variants associated with toxicity to 5-fluoropyrimidine based therapy and identifying germline mutations in the exonuclease domains of POLE and POLD1 in patients with multiple bowel polyps.  In 2015 Claire was appointed as a leadership fellow in the Oxford Centre for Cancer Gene Research working on inherited risk factors for gastrointestinal cancers and their precursors.  Her appointment as a Birmingham fellow in October 2017 has enabled her to establish an independent research group.  To date Claire has authored over 30 scientific papers in high impact journals and reviews grants for CRUK and MRC as well as acting as an expert reviewer for journals such as The International Journal of Cancer.


Offers research projects as part of the MSc Genomic Medicine Programme.

Postgraduate supervision

Claire supervises a PhD student, a clinical academic fellow and several medical students.  She would be interested in hearing from people with either a scientific or clinical background that would be keen to join the group.


Tox SNPs: We want to identify genetic variants associated with serious adverse events following treatment with chemotherapeutics in the gastrointestinal cancer setting.  We are working with Oxford Cancer Biomarkers to develop predictive tests to identify patients at high risk of serious adverse events to assist when making treatment plans for cancer patients.

Risk SNPs : Meta-analysis of Genome wide association studies of gastrointestinal cancers and their precursors.  We want to combine GWAS studies to identify novel risk variants.  We will perform statistical and molecular fine mapping studies to identify casual variants and the genes they have an impact upon.  We aim to identify genes involved in the development of Barrett’s oesophagus  and colorectal polyps with the aims of designing chemoprevention drugs and making better disease models for testing these in.

MIPs: We have optimised a panel of >2,000 molecular inversion probes to allow cost effective reseqencing of the driver genes most commonly found to be mutated in colorectal cancer.  We are working with researchers at the Ludwig Institute and Wellcome Trust Centre for Human Genetics to use this panel to molecularly characterise tumours.

Research groups and centres:  5FUsafe

Other activities

  • Member of Colorectal GeCIP 100,000 genomes project
  • Consultancy work for Oxford Cancer Biomarkers


CRC GWAS European consortium publications.

1. Mendelian randomisation analysis strongly implicates adiposity with risk of developing colorectal cancer. Jarvis, D., J. S. Mitchell, P. J. Law, K. Palin, S. Tuupanen, A. Gylfe, U. A. Hanninen, T. Cajuso, T. Tanskanen, J. Kondelin, E. Kaasinen, A. P. Sarin, J. Kaprio, J. G. Eriksson, H. Rissanen, P. Knekt, E. Pukkala, P. Jousilahti, V. Salomaa, S. Ripatti, A. Palotie, H. Jarvinen, L. Renkonen-Sinisalo, A. Lepisto, J. Bohm, J. P. Meklin, N. A. Al-Tassan, C. Palles, L. Martin, E. Barclay, S. M. Farrington, M. N. Timofeeva, B. F. Meyer, S. M. Wakil, H. Campbell, C. G. Smith, S. Idziaszczyk, T. S. Maughan, R. Kaplan, R. Kerr, D. Kerr, D. D. Buchanan, A. K. Win, J. L. Hopper, M. A. Jenkins, N. M. Lindor, P. A. Newcomb, S. Gallinger, D. Conti, F. Schumacher, G. Casey, J. Taipale, L. A. Aaltonen, J. P. Cheadle, M. G. Dunlop, I. P. Tomlinson, and R. S. Houlston. Br J Cancer. 2016 Jul 12;115(2):266-72

2. Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease. Orlando, G., Law, P. J., Palin, K., Tuupanen, S., Gylfe, A., Hanninen, U. A., Cajuso, T., Tanskanen, T., Kondelin, J., Kaasinen, E., Sarin, A. P., Kaprio, J., Eriksson, J. G., Rissanen, H., Knekt, P., Pukkala, E., Jousilahti, P., Salomaa, V., Ripatti, S., Palotie, A., Jarvinen, H., Renkonen-Sinisalo, L., Lepisto, A., Bohm, J., Mecklin, J. P., Al-Tassan, N. A., Palles, C., Martin, L., Barclay, E., Tenesa, A., Farrington, S., Timofeeva, M. N., Meyer, B. F., Wakil, S. M., Campbell, H., Smith, C. G., Idziaszczyk, S., Maughan, T. S., Kaplan, R., Kerr, R., Kerr, D., Buchanan, D. D., Ko Win, A., Hopper, J., Jenkins, M., Lindor, N. M., Newcomb, P. A., Gallinger, S., Conti, D., Schumacher, F., Casey, G., Taipale, J., Cheadle, J. P., Dunlop, M. G., Tomlinson, I. P., Aaltonen, L. A. and Houlston, R. S Hum Mol Genet. 2016 Jun 1;25(11):2349-2359.

3. Correspondence:SEMA4A variation and risk of colorectal cancer. Kinnersley, B., D. Chubb, S. E. Dobbins, M. Frampton, S. Buch, M. N. Timofeeva, S. Castellvi-Bel, S. M. Farrington, A. Forsti, J. Hampe, K. Hemminki, R. M. Hofstra, E. Northwood, C. Palles, M. Pinheiro, C. Ruiz-Ponte, C. Schafmayer, M. R. Teixeira, H. Westers, T. van Wezel, D. Timothy Bishop, I. Tomlinson, M. G. Dunlop, and R. S. Houlston. Nat Commun. 2016 Mar 10;7:10611. doi: 10.1038/ncomms10611.

4. Meta-Analysis of Genome-Wide Association Studies Identifies Common Susceptibility Polymorphisms for Colorectal and Endometrial Cancer near Sh2b3 and Tshz1. Cheng, T. H. , D. Thompson , J. Painter , T. O'Mara , M. Gorman , L. Martin , C. Palles , A. Jones , D. D. Buchanan , A. Ko Win , J. Hopper , M. Jenkins , N. M. Lindor , P. A. Newcomb , S. Gallinger , D. Conti , F. Schumacher , G. Casey , G. G. Giles , P. Pharoah , J. Peto , A. Cox , A. Swerdlow , F. Couch , J. M. Cunningham , E. L. Goode , S. J. Winham , D. Lambrechts , P. Fasching , B. Burwinkel , H. Brenner , H. Brauch , J. Chang-Claude , H. B. Salvesen , V. Kristensen , H. Darabi , J. Li , T. Liu , A. Lindblom , P. Hall , M. E. de Polanco , M. Sans , A. Carracedo , S. Castellvi-Bel , A. Rojas-Martinez , S. Aguiar Jnr , M. R. Teixeira , A. M. Dunning , J. Dennis , G. Otton , T. Proietto , E. Holliday , J. Attia , K. Ashton , R. J. Scott , M. McEvoy , S. C. Dowdy , B. L. Fridley , H. M. Werner , J. Trovik , T. S. Njolstad , E. Tham , M. Mints , I. Runnebaum , P. Hillemanns , T. Dork , F. Amant , S. Schrauwen , A. Hein , M. W. Beckmann , A. Ekici , K. Czene , A. Meindl , M. K. Bolla , K. Michailidou , J. P. Tyrer , Q. Wang , S. Ahmed , C. S. Healey , M. Shah , D. Annibali , J. Depreeuw , N. A. Al-Tassan , R. Harris , B. F. Meyer , N. Whiffin , F. J. Hosking , B. Kinnersley , S. M. Farrington , M. Timofeeva , A. Tenesa , H. Campbell , R. W. Haile , S. Hodgson , L. Carvajal-Carmona , J. P. Cheadle , D. Easton , M. Dunlop , R. Houlston , A. Spurdle , I. Tomlinson. Sci Rep 5 (Dec 01 2015): 17369. http://dx.doi.org/10.1038/srep17369.

5. Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer. Timofeeva, M. N., B. Kinnersley, S. M. Farrington, N. Whiffin, C. Palles, V. Svinti, A. Lloyd, M. Gorman, L. Y. Ooi, F. Hosking, E. Barclay, L. Zgaga, S. Dobbins, L. Martin, E. Theodoratou, P. Broderick, A. Tenesa, C. Smillie, G. Grimes, C. Hayward, A. Campbell, D. Porteous, I. J. Deary, S. E. Harris, E. L. Northwood, J. H. Barrett, G. Smith, R. Wolf, D. Forman, H. Morreau, D. Ruano, C. Tops, J. Wijnen, M. Schrumpf, A. Boot, H. F. Vasen, F. J. Hes, T. van Wezel, A. Franke, W. Lieb, C. Schafmayer, J. Hampe, S. Buch, P. Propping, K. Hemminki, A. Forsti, H. Westers, R. Hofstra, M. Pinheiro, C. Pinto, M. Teixeira, C. Ruiz-Ponte, C. Fernandez-Rozadilla, A. Carracedo, A. Castells, S. Castellvi-Bel, H. Campbell, D. T. Bishop, I. P. Tomlinson, M. G. Dunlop, and R. S. Houlston. Sci Rep. 2015 Nov 10;5:16286.

6.  A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer. Al-Tassan, N. A., Whiffin, N., Hosking, F. J., Palles, C., Farrington, S. M., Dobbins, S. E., Harris, R., Gorman, M., Tenesa, A., Meyer, B. F., Wakil, S. M., Kinnersley, B., Campbell, H., Martin, L., Smith, C. G., Idziaszczyk, S., Barclay, E., Maughan, T. S., Kaplan, R., Kerr, R., Kerr, D., Buchanan, D. D., Win, A. K., Hopper, J., Jenkins, M., Lindor, N. M., Newcomb, P. A., Gallinger, S., Conti, D., Schumacher, F., Casey, G., Dunlop, M. G., Tomlinson, I. P., Cheadle, J. P. and Houlston, R. S. Sci Rep. 2015 May 20;5:10442

7. Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis.  Whiffin, N., Hosking, F. J., Farrington, S. M., Palles, C., Dobbins, S. E., Zgaga, L., Lloyd, A., Kinnersley, B., Gorman, M., Tenesa, A., Broderick, P., Wang, Y., Barclay, E., Hayward, C., Martin, L., Buchanan, D. D., Win, A. K., Hopper, J., Jenkins, M., Lindor, N. M., Newcomb, P. A., Gallinger, S., Conti, D., Schumacher, F., Casey, G., Liu, T., Swedish Low-Risk Colorectal Cancer Study, Group, Campbell, H., Lindblom, A., Houlston, R. S., Tomlinson, I. P. and Dunlop, M. G. Hum Mol Genet. 2014 Sep 1;23(17):4729-37.

8.  Role of the oxidative DNA damage repair gene OGG1 in colorectal tumorigenesis. Kinnersley, B., Buch, S., Castellvi-Bel, S., Farrington, S. M., Forsti, A., Hampe, J., Hemminki, K., Hofstra, R. M., Northwood, E., Palles, C., Pinheiro, M., Ruiz-Ponte, C., Schafmayer, C., Teixeira, M. R., Westers, H., Wezel, Tv, Bishop, D. T., Tomlinson, I., Dunlop, M. G. and Houlston, R. S.  J Natl Cancer Inst. 2014 Apr 26;106(5)

9. BMP2/BMP4 colorectal cancer susceptibility loci in northern and southern European populations. Fernandez-Rozadilla C, Palles C, et al. Carcinogenesis. 2013 Feb;34(2):314-8

10.  A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12. Fernandez-Rozadilla C, Cazier JB, Tomlinson IP, Carvajal-Carmona LG, Palles C, et al. BMC Genomics. 2013 Jan 26;14:55.

11. Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk. Dunlop MG, Dobbins SE, Farrington SM, Jones AM, Palles C, et al. Nat Genet. 2012 May 27;44(7):770-6.

12. Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer. Tomlinson IP, Carvajal-Carmona LG, Dobbins SE, Tenesa A, Jones AM, Howarth K, Palles C, et al. PLoS Genet. 2011 Jun;7(6):e1002105.

BO GWAS studies

I co-lead the analysis of the WTCCC2 study of BO from the disease team (all WTCCC2 studies were co-analysed by a WTCCC2 member and a disease team member).  This lead to publication number 1.

13. Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus. Su, Z. , L. J. Gay , A. Strange , C. Palles , G. B, , D. C. Whiteman , F. Lescai , C. Langford , M. Nanji , S. Edkins , A. van der Winkel , D. Levine , P. Sasieni , C. Bellenguez , K. Howarth , C. Freeman , N. Trudgill , A. T. Tucker , M. Pirinen , M. P. Peppelenbosch , L. J. van der Laan , E. J. Kuipers , J. P. Drenth , W. H. Peters , J. V. Reynolds , D. P. Kelleher , R. McManus , H. Grabsch , H. Prenen , R. Bisschops , K. Krishnadath , P. D. Siersema , J. W. van Baal , M. Middleton , R. Petty , R. Gillies , N. Burch , P. Bh,ari , S. Paterson , C. Edwards , I. Penman , K. Vaidya , Y. Ang , I. Murray , P. Patel , W. Ye , P. Mullins , A. H. Wu , N. C. Bird , H. Dallal , N. J. Shaheen , L. J. Murray , K. Koss , L. Bernstein , Y. Romero , L. J. Hardie , R. Zhang , H. Winter , D. A. Corley , S. Panter , H. A. Risch , B. J. Reid , I. Sargeant , M. D. Gammon , H. Smart , A. Dhar , H. McMurtry , H. Ali , G. Liu , A. G. Casson , W. H. Chow , M. Rutter , A. Tawil , D. Morris , C. Nwokolo , P. Isaacs , C. Rodgers , K. Ragunath , C. MacDonald , C. Haigh , D. Monk , G. Davies , S. Wajed , D. Johnston , M. Gibbons , S. Cullen , N. Church , R. Langley , M. Griffin , D. Alderson , P. Deloukas , S. E. Hunt , E. Gray , S. Dronov , S. C. Potter , A. Tashakkori-Ghanbaria , M. ,erson , C. Brooks , J. M. Blackwell , E. Bramon , M. A. Brown , J. P. Casas , A. Corvin , A. Duncanson , H. S. Markus , C. G. Mathew , C. N. Palmer , R. Plomin , A. Rautanen , S. J. Sawcer , R. C. Trembath , A. C. Viswanathan , N. Wood , G. Trynka , C. Wijmenga , J. B. Cazier , P. Atherfold , A. M. Nicholson , N. L. Gellatly , D. Glancy , S. C. Cooper , D. Cunningham , T. Lind , J. Hapeshi , D. Ferry , B. Rathbone , J. Brown , S. Love , S. Attwood , S. MacGregor , P. Watson , S. S,ers , W. Ek , R. F. Harrison , P. Moayyedi , J. de Caestecker , H. Barr , E. Stupka , T. L. Vaughan , L. Peltonen , C. C. Spencer , I. Tomlinson , P. Donnelly , J. A. Jankowski , Consortium Esophageal Adenocarcinoma Genetics , Consortium Wellcome Trust Case Control. Nat Genet. 2012 Oct;44(10):1131-6.

14. Polymorphisms near TBX5 and GDF7 are associated with increased risk for Barrett's esophagus. Palles C*, and Chegwidden, L* et al. Gastroenterology. 2015 Feb;148(2):367-78

15. Genome-wide association studies in oesophageal adenocarcinoma and Barrett's oesophagus: a large-scale meta-analysis.  Gharahkhani, P., R. C. Fitzgerald, T. L. Vaughan, C. Palles, I. Gockel, I. Tomlinson, M. F. Buas, A. May, C. Gerges, M. Anders, J. Becker, N. Kreuser, T. Noder, M. Venerito, L. Veits, T. Schmidt, H. Manner, C. Schmidt, T. Hess, A. C. Bohmer, J. R. Izbicki, A. H. Holscher, H. Lang, D. Lorenz, B. Schumacher, A. Hackelsberger, R. Mayershofer, O. Pech, Y. Vashist, K. Ott, M. Vieth, J. Weismuller, M. M. Nothen, Barrett's, Consortium Esophageal Adenocarcinoma, Consortium Esophageal Adenocarcinoma GenEtics, Consortium Wellcome Trust Case Control, S. Attwood, H. Barr, L. Chegwidden, J. de Caestecker, R. Harrison, S. B. Love, D. MacDonald, P. Moayyedi, H. Prenen, R. G. Watson, P. G. Iyer, L. A. Anderson, L. Bernstein, W. H. Chow, L. J. Hardie, J. Lagergren, G. Liu, H. A. Risch, A. H. Wu, W. Ye, N. C. Bird, N. J. Shaheen, M. D. Gammon, D. A. Corley, C. Caldas, S. Moebus, M. Knapp, W. H. Peters, H. Neuhaus, T. Rosch, C. Ell, S. MacGregor, P. Pharoah, D. C. Whiteman, J. Jankowski, and J. Schumacher.  Lancet Oncol. 2016 Oct;17(10):1363-1373.

16. Germline variation in inflammation-related pathways and risk of Barrett's oesophagus and oesophageal adenocarcinoma.Buas, M. F., Q. He, L. G. Johnson, L. Onstad, D. M. Levine, A. P. Thrift, P. Gharahkhani, C. Palles, J. Lagergren, R. C. Fitzgerald, W. Ye, C. Caldas, N. C. Bird, N. J. Shaheen, L. Bernstein, M. D. Gammon, A. H. Wu, L. J. Hardie, P. D. Pharoah, G. Liu, P. Iyer, D. A. Corley, H. A. Risch, W. H. Chow, H. Prenen, L. Chegwidden, S. Love, S. Attwood, P. Moayyedi, D. MacDonald, R. Harrison, P. Watson, H. Barr, J. deCaestecker, I. Tomlinson, J. Jankowski, D. C. Whiteman, S. MacGregor, T. L. Vaughan, and M. M. Madeleine.  Gut. 2016 Aug 2. pii: gutjnl-2016-311622

17. Common Variants Confer Susceptibility to Barrett's Esophagus: Insights from the First Genome-Wide Association Studies. Palles C, Findlay JM, Tomlinson I.Chapter in  Stem Cells, Pre-neoplasia, and Early Cancer of the Upper Gastrointestinal Tract, Volume 908 of the series Advances in Experimental Medicine and Biology pp 265-290 August 2016.

Exome and genome sequencing of germline DNA from patients with CRC

18.  Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.   D., P. Broderick, S. E. Dobbins, M. Frampton, B. Kinnersley, S. Penegar, A. Price, Y. P. Ma, A. L. Sherborne, C. Palles, M. N. Timofeeva, D. T. Bishop, M. G. Dunlop, I. Tomlinson, and R. S. Houlston.  Nat Commun. 2016 Jun 22;7:11883.

19. Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Palles C*, Cazier JB* et al Nat Genet. 2013 Feb;45(2):136-44.

Endometrial Cancer

20. Five endometrial cancer risk loci identified through genome-wide association analysis.  Cheng, T. H., D. J. Thompson, T. A. O'Mara, J. N. Painter, D. M. Glubb, S. Flach, A. Lewis, J. D. French, L. Freeman-Mills, D. Church, M. Gorman, L. Martin, Group National Study of Endometrial Cancer Genetics, S. Hodgson, P. M. Webb, Group Australian National Endometrial Cancer Study, J. Attia, E. G. Holliday, M. McEvoy, R. J. Scott, A. K. Henders, N. G. Martin, G. W. Montgomery, D. R. Nyholt, S. Ahmed, C. S. Healey, M. Shah, J. Dennis, P. A. Fasching, M. W. Beckmann, A. Hein, A. B. Ekici, P. Hall, K. Czene, H. Darabi, J. Li, T. Dork, M. Durst, P. Hillemanns, I. Runnebaum, F. Amant, S. Schrauwen, H. Zhao, D. Lambrechts, J. Depreeuw, S. C. Dowdy, E. L. Goode, B. L. Fridley, S. J. Winham, T. S. Njolstad, H. B. Salvesen, J. Trovik, H. M. Werner, K. Ashton, G. Otton, T. Proietto, T. Liu, M. Mints, E. Tham, Rendocas, Chibcha Consortium, M. J. Li, S. H. Yip, J. Wang, M. K. Bolla, K. Michailidou, Q. Wang, J. P. Tyrer, M. Dunlop, R. Houlston, C. Palles, J. L. Hopper, Aocs Group, J. Peto, A. J. Swerdlow, B. Burwinkel, H. Brenner, A. Meindl, H. Brauch, A. Lindblom, J. Chang-Claude, F. J. Couch, G. G. Giles, V. N. Kristensen, A. Cox, J. M. Cunningham, P. D. Pharoah, A. M. Dunning, S. L. Edwards, D. F. Easton, I. Tomlinson, and A. B. Spurdle. Nat Genet. 2016 Jun;48(6):667-74.

Analysis of somatic mutations using Ion Torrent platform

21.  Differential clonal evolution in oesophageal cancers in response to neo-adjuvant chemotherapy.   Findlay, J. M., F. Castro-Giner, S. Makino, E. Rayner, C. Kartsonaki, W. Cross, M. Kovac, D. Ulahannan, C. Palles, R. S. Gillies, T. P. MacGregor, D. Church, N. D. Maynard, F. Buffa, J. B. Cazier, T. A. Graham, L. M. Wang, R. A. Sharma, M. Middleton, and I. Tomlinson.  Nat Commun. 2016 Apr 5;7:11111.

Further work on proof reading domain mutations

22.  A panoply of errors: polymerase proofreading domain mutations in cancer.   Rayner, E., I. C. van Gool, C. Palles, S. E. Kearsey, T. Bosse, I. Tomlinson, and D. N. Church Nat Rev Cancer. 2016 Feb;16(2):71-81. doi: 10.1038/nrc.2015.12. Review.

23. POLE Proofreading Mutations Elicit an Antitumor Immune Response in Endometrial Cancer.   van Gool IC, Eggink FA, Freeman-Mills L, Stelloo E, Marchi E, de Bruyn M, Palles C, Nout RA, de Kroon CD, Osse EM, Klenerman P, Creutzberg CL, TomlinsonIP, Smit VT, Nijman HW, Bosse T, Church DN. Clin Cancer Res. 2015 Jul 15;21(14):3347-55

24. DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer. Church DN, Briggs SE, Palles C, et al. Hum Mol Genet. 2013 Jul 15;22(14):2820-8.

Non-medullary thyroid cancer genetics

25.  The HABP2 G534E variant is an unlikely cause of familial non-medullary thyroid cancer.  Sahasrabudhe, R., J. Stultz, J. Williamson, P. Lott, A. Estrada, M. Bohorquez, C. Palles, G. Polanco-Echeverry, E. Jaeger, L. Martin, M. Magdalena Echeverry, I. Tomlinson, L. G. Carvajal-Carmona, and Tcukin.  J Clin Endocrinol Metab. 2015 Dec 21:jc20153928.

Genetic determinants of drug toxicity

26.  Clinical relevance of DPYD variants c.1679T>G, c.1236G>A/HapB3, and c.1601G>A as predictors of severe fluoropyrimidine-associated toxicity: a systematic review and meta-analysis of individual patient data.  Meulendijks D, Henricks LM, Sonke GS, Deenen MJ, Froehlich TK, Amstutz U, Largiadèr CR, Jennings BA, Marinaki AM, Sanderson JD, Kleibl Z, Kleiblova P, Schwab M, Zanger UM, Palles C, et al.  Lancet Oncol. 2015

27. A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMS. Rosmarin D*, and Palles C* et al. Gut. 2015 Jan;64(1):111-20.

28. Genetic markers of toxicity from capecitabine and other fluorouracil-based regimens: investigation in the QUASAR2 study, systematic review, and meta-analysis. Rosmarin D, Palles C, et al. J Clin Oncol. 2014 Apr 1;32(10):1031-9.

29. Deciphering the genetic architecture of low-penetrance susceptibility to colorectal cancer. Whiffin N, Dobbins SE, Hosking FJ, Palles C, et al. Hum Mol Genet. 2013 Dec 15;22(24):5075-82.

30. Pharmacogenomics in colorectal cancer: a genome-wide association study to predict toxicity after 5-fluorouracil or FOLFOX administration. Fernandez-Rozadilla C, Cazier JB, Moreno V, Crous-Bou M, Guinó E, Durán G, Lamas MJ, López R, Candamio S, Gallardo E, Paré L, Baiget M, Páez D, López-Fernández LA, Cortejoso L, García MI, Bujanda L, González D, Gonzalo V, Rodrigo L, Reñé JM, Jover R, Brea-Fernández A, Andreu M, Bessa X, Llor X, Xicola R, Palles C, Tomlinson I, Castellví-Bel S, Castells A, Ruiz-Ponte C, Carracedo A; EPICOLON Consortium. Pharmacogenomics J. 2013 Jun;13(3):209-17.

31. ‘Toxgnostics': an unmet need in cancer medicine. Church D, Kerr R, Domingo E, Rosmarin D, Palles C, Maskell K, Tomlinson I, Kerr D. Nat Rev Cancer. 2014 Jun;14(6):440-5.

Breast cancer papers.  PhD

32. CYP3A variation, premenopausal estrone levels, and breast cancer risk. Johnson N, Walker K, Gibson LJ, Orr N, Folkerd E, Haynes B, Palles C, et al. J Natl Cancer Inst. 2012 May 2;104(9):657-69.

33. Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study. Fletcher O, Johnson N, Orr N, Hosking FJ, Gibson LJ, Walker K, Zelenika D, Gut I, Heath S, Palles C et al. J Natl Cancer Inst. 2011 Mar 2;103(5):425-35.

34. Sex steroids, growth factors and mammographic density: a cross-sectional study of UK postmenopausal Caucasian and Afro-Caribbean women. McCormack VA, Dowsett M, Folkerd E, Johnson N, Palles C, et al. Breast Cancer Res. 2009;11(3):R38.

35. Identification of genetic variants that influence circulating IGF1 levels: a targeted search strategy. Palles C et al. Hum Mol Genet. 2008 May 15;17(10):1457-64.

36. Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility. Johnson N, Fletcher O, Palles C, et al. Hum Mol Genet. 2007 May 1;16(9):1051-7.

37. Inconsistent association between the STK15 F31I genetic polymorphism and breast cancer risk. Fletcher O, Johnson N, Palles C, et al. J Natl Cancer Inst. 2006 Jul 19;98(14):1014-8.

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