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Claire Palles

Dr.

20112024

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  • 2024

    Fine-mapping analysis including over 254,000 East Asian and European descendants identifies 136 putative colorectal cancer susceptibility genes

    Chen, Z., Guo, X., Tao, R., Huyghe, J. R., Law, P. J., Fernandez-Rozadilla, C., Ping, J., Jia, G., Long, J., Li, C., Shen, Q., Xie, Y., Timofeeva, M. N., Thomas, M., Schmit, S. L., Díez-Obrero, V., Devall, M., Moratalla-Navarro, F., Fernandez-Tajes, J., Palles, C., & 185 othersSherwood, K., Briggs, S. E. W., Svinti, V., Donnelly, K., Farrington, S. M., Blackmur, J., Vaughan-Shaw, P. G., Shu, X-O., Lu, Y., Broderick, P., Studd, J., Harrison, T. A., Conti, D. V., Schumacher, F. R., Melas, M., Rennert, G., Obón-Santacana, M., Martín-Sánchez, V., Oh, J. H., Kim, J., Jee, S. H., Jung, K. J., Kweon, S-S., Shin, M-H., Shin, A., Ahn, Y-O., Kim, D-H., Oze, I., Wen, W., Matsuo, K., Matsuda, K., Tanikawa, C., Ren, Z., Gao, Y-T., Jia, W-H., Hopper, J. L., Jenkins, M. A., Win, A. K., Pai, R. K., Figueiredo, J. C., Haile, R. W., Gallinger, S., Woods, M. O., Newcomb, P. A., Duggan, D., Cheadle, J. P., Kaplan, R., Kerr, R., Kerr, D., Kirac, I., Böhm, J., Mecklin, J-P., Jousilahti, P., Knekt, P., Aaltonen, L. A., Rissanen, H., Pukkala, E., Eriksson, J. G., Cajuso, T., Hänninen, U., Kondelin, J., Palin, K., Tanskanen, T., Renkonen-Sinisalo, L., Männistö, S., Albanes, D., Weinstein, S. J., Ruiz-Narvaez, E., Palmer, J. R., Buchanan, D. D., Platz, E. A., Visvanathan, K., Ulrich, C. M., Siegel, E., Brezina, S., Gsur, A., Campbell, P. T., Chang-Claude, J., Hoffmeister, M., Brenner, H., Slattery, M. L., Potter, J. D., Tsilidis, K. K., Schulze, M. B., Gunter, M. J., Murphy, N., Castells, A., Castellví-Bel, S., Moreira, L., Arndt, V., Shcherbina, A., Bishop, D. T., Giles, G. G., Southey, M. C., Idos, G. E., McDonnell, K. J., Abu-Ful, Z., Greenson, J. K., Shulman, K., Lejbkowicz, F., Offit, K., Su, Y-R., Steinfelder, R., Keku, T. O., van Guelpen, B., Hudson, T. J., Hampel, H., Pearlman, R., Berndt, S. I., Hayes, R. B., Martinez, M. E., Thomas, S. S., Pharoah, P. D. P., Larsson, S. C., Yen, Y., Lenz, H-J., White, E., Li, L., Doheny, K. F., Pugh, E., Shelford, T., Chan, A. T., Cruz-Correa, M., Lindblom, A., Hunter, D. J., Joshi, A. D., Schafmayer, C., Scacheri, P. C., Kundaje, A., Schoen, R. E., Hampe, J., Stadler, Z. K., Vodicka, P., Vodickova, L., Vymetalkova, V., Edlund, C. K., Gauderman, W. J., Shibata, D., Toland, A., Markowitz, S., Kim, A., Chanock, S. J., van Duijnhoven, F., Feskens, E. J. M., Sakoda, L. C., Gago-Dominguez, M., Wolk, A., Pardini, B., FitzGerald, L. M., Lee, S. C., Ogino, S., Bien, S. A., Kooperberg, C., Li, C. I., Lin, Y., Prentice, R., Qu, C., Bézieau, S., Yamaji, T., Sawada, N., Iwasaki, M., Le Marchand, L., Wu, A. H., Qu, C., McNeil, C. E., Coetzee, G., Hayward, C., Deary, I. J., Harris, S. E., Theodoratou, E., Reid, S., Walker, M., Ooi, L. Y., Lau, K. S., Zhao, H., Hsu, L., Cai, Q., Dunlop, M. G., Gruber, S. B., Houlston, R. S., Moreno, V., Casey, G., Peters, U., Tomlinson, I. & Zheng, W., 26 Apr 2024, In: Nature Communications. 15, 1, 17 p., 3557.

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  • Phenome-wide Mendelian randomisation analysis of 378,142 cases reveals risk factors for eight common cancers

    Went, M., Sud, A., Mills, C., Hyde, A., Culliford, R., Law, P., Vijayakrishnan, J., Gockel, I., Maj, C., Schumacher, J., Palles, C., Kaiser, M. & Houlston, R., 25 Mar 2024, In: Nature Communications. 15, 1, 12 p., 2637.

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  • 2023

    Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair

    Sherwood, K., Ward, J. C., Soriano, I., Martin, L., Campbell, A., Rahbari, R., Kafetzopoulos, I., Sproul, D., Green, A., Sampson, J. R., Donaldson, A., Ong, K-R., Heinimann, K., Nielsen, M., Thomas, H., Latchford, A., Palles, C. & Tomlinson, I., 19 Jun 2023, In: Nature Communications. 14, 1, 10 p., 3636.

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  • Lineage skewing and genome instability underlie marrow failure in a zebrafish model of GATA2 deficiency

    Mahony, C. B., Copper, L., Vrljicak, P., Noyvert, B., Constantinidou, C., Browne, S., Pan, Y., Palles, C., Ott, S., Higgs, M. R. & Monteiro, R., 27 Jun 2023, In: Cell Reports. 42, 6, 20 p., 112571.

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  • 2022

    Combined exome and transcriptome sequencing of non-muscle-invasive bladder cancer: associations between genomic changes, expression subtypes, and clinical outcomes

    Goel, A., Ward, D. G., Noyvert, B., Yu, M., Gordon, N. S., Abbotts, B., Colbourne, J. K., Kissane, S., James, N. D., Zeegers, M. P., Cheng, K. K., Cazier, J., Whalley, C. M., Beggs, A. D., Palles, C., Arnold, R. & Bryan, R. T., Dec 2022, In: Genome medicine. 14, 1, 16 p., 59 .

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  • COVID-19 in children with haematological malignancies

    Millen, G. C., Arnold, R., Cazier, J-B., Curley, H., Feltbower, R., Gamble, A., Glaser, A., Grundy, R. G., Kirton, L., Lee, L. Y. W., McCabe, M. G., Palles, C., Phillips, B., Stiller, C. A., Varnai, C. & Kearns, P., 1 Feb 2022, In: Archives of Disease in Childhood. 107, 2, p. 186-188 3 p.

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  • Genetic variation in ST6GAL1 is a determinant of capecitabine and oxaliplatin induced hand-foot syndrome

    Watts, K., Wills, C., Madi, A., Palles, C., Maughan, T. S., Kaplan, R., Al‐tassan, N. A., Kerr, R., Kerr, D. J., Houlston, R. S., Escott‐price, V. & Cheadle, J. P., 25 Apr 2022, (E-pub ahead of print) In: International Journal of Cancer. 151, 6, p. 957-966

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  • Germline genetic variation and predicting immune checkpoint inhibitor induced toxicity

    Chin, I. S., Khan, A., Olsson-Brown, A., Papa, S., Middleton, G. & Palles, C., 24 Dec 2022, In: NPJ Genomic Medicine. 7, 1, 14 p., 73.

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  • Germline MBD4 deficiency causes a multi-tumor predisposition syndrome

    Genomics England Research Consortium, Colorectal Tumour Gene Identification (CORGI) Consortium & WGS500 Consortium, 5 May 2022, In: American Journal of Human Genetics. 109, 5, p. 953-960 8 p.

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  • Key findings from the UKCCMP cohort of 877 patients with haematological malignancy and COVID-19: disease control as an important factor relative to recent chemotherapy or anti-CD20 therapy

    UKCCMP team, 9 Feb 2022, In: British Journal of Haematology. 196, 4, p. 892-901 10 p.

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  • Mortality among adults with cancer undergoing chemotherapy or immunotherapy and infected with COVID-19

    UKCCMP team, 21 Feb 2022, In: JAMA network open. 5, 2, 11 p., e220130.

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  • Signatures of TOP1 transcription-associated mutagenesis in cancer and germline

    The Genomics England Research Consortium & Colorectal Cancer Domain UK 100,000 Genomes Project, 24 Feb 2022, In: Nature. 602, 7898, p. 623-631 9 p.

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  • Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features

    Genomics England Research Consortium, CLL pilot consortium, Gibson, J., Prabhu, A. V., Schwessinger, R., Jennings, D., James, T., Maheswari, U., Duran-Ferrer, M., Carninci, P., Knight, S. J. L., Månsson, R., Hughes, J., Davies, J., Ross, M., Bentley, D., Strefford, J. C., Devereux, S., Pettitt, A. R., Hillmen, P., & 9 othersCaulfield, M. J., Houlston, R. S., Martín-Subero, J. I., Schuh, A., Fox, C., Moss, P., Palles, C., Pratt, G. & Stankovic, T., 4 Nov 2022, In: Nature Genetics. 54, 11, p. 1675-1689 15 p.

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  • 2021

    Increased somatic mutation burdens in normal human cells due to defective DNA polymerases

    Robinson, P. S., Coorens, T. H. H., Palles, C., Mitchell, E., Abascal, F., Olafsson, S., Lee, B. C. H., Lawson, A. R. J., Lee-six, H., Moore, L., Sanders, M. A., Hewinson, J., Martin, L., Pinna, C. M. A., Galavotti, S., Rahbari, R., Campbell, P. J., Martincorena, I., Tomlinson, I. & Stratton, M. R., Oct 2021, In: Nature Genetics. 53, 10, p. 1434–1442 9 p.

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  • The clinical features of polymerase proof-reading associated polyposis (PPAP) and recommendations for patient management

    Colorectal Tumour Gene Identification (CORGI) Consortium, 5 May 2021, (E-pub ahead of print) In: Familial Cancer.

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  • 2020

    COVID-19 mortality in patients with cancer on chemotherapy or other anticancer treatments: a prospective cohort study

    UK Coronavirus Monitoring Project Team, 20 Jun 2020, In: The Lancet. 395, 10241, p. 1919-1926 8 p.

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    322 Citations (Scopus)
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  • COVID-19 prevalence and mortality in patients with cancer and the effect of primary tumour subtype and patient demographics: a prospective cohort study

    UK Coronavirus Cancer Monitoring Project Team, Oct 2020, In: The Lancet Oncology. 21, 10, p. 1309-1316 8 p.

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    98 Citations (Scopus)
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  • Detailed molecular and immune marker profiling of archival prostate cancer samples reveals an inverse association between TMPRSS2:ERG fusion status and immune cell infiltration

    Rao, S. R., Alham, N. K., Upton, E., Mcintyre, S., Bryant, R. J., Cerundolo, L., Bowes, E., Jones, S., Browne, M., Mills, I., Lamb, A., Tomlinson, I., Wedge, D., Browning, L., Sirinukunwattana, K., Palles, C., Hamdy, F. C., Rittscher, J. & Verrill, C., May 2020, In: Journal of Molecular Diagnostics. 22, 5, p. 652-669 18 p.

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  • 2019

    Association analyses identify 31 new risk loci for colorectal cancer susceptibility

    PRACTICAL consortium, 14 May 2019, In: Nature Communications. 10, 1, 15 p., 2154.

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    44 Citations (Scopus)
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  • 2018

    Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci

    Tanskanen, T., van den Berg, L., Välimäki, N., Aavikko, M., Ness-Jensen, E., Hveem, K., Wettergren, Y., Bexe Lindskog, E., Tõnisson, N., Metspalu, A., Silander, K., Orlando, G., Law, P. J., Tuupanen, S., Gylfe, A. E., Hänninen, U. A., Cajuso, T., Kondelin, J., Sarin, A-P., Pukkala, E., & 40 othersJousilahti, P., Salomaa, V., Ripatti, S., Palotie, A., Järvinen, H., Renkonen-Sinisalo, L., Lepistö, A., Böhm, J., Mecklin, J-P., Al-Tassan, N. A., Palles, C., Martin, L., Barclay, E., Tenesa, A., Farrington, S. M., 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., Win, A. K., Hopper, J., Jenkins, M. A., Newcomb, P. A., Gallinger, S., Conti, D., Schumacher, F. R., Casey, G., Cheadle, J. P., Dunlop, M. G., Tomlinson, I. P., Houlston, R. S., Palin, K. & Aaltonen, L. A., 9 Dec 2018, In: International Journal of Cancer. 142, 3, p. 540-546 7 p.

    Research output: Contribution to journal › Article › peer-review

    18 Citations (Scopus)

  • Mutation burden and other molecular markers of prognosis in colorectal cancer treated with curative intent: results from the QUASAR 2 clinical trial and an Australian community-based series

    Domingo, E., Camps, C., Kaisaki, P. J., Parsons, M. J., Mouradov, D., Pentony, M. M., Makino, S., Palmieri, M., Ward, R. L., Hawkins, N. J., Gibbs, P., Askautrud, H., Oukrif, D., Wang, H., Wood, J., Tomlinson, E., Bark, Y., Kaur, K., Johnstone, E. C., Palles, C., & 9 othersChurch, D. N., Novelli, M., Danielsen, H. E., Sherlock, J., Kerr, D., Kerr, R., Sieber, O., Taylor, J. C. & Tomlinson, I., Sept 2018, In: The Lancet Gastroenterology & Hepatology. 3, 9, p. 635-643

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    33 Citations (Scopus)
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  • Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response

    Temko, D., Van Gool, I. C., Rayner, E., Glaire, M., Makino, S., Brown, M., Chegwidden, L., Palles, C., Depreeuw, J., Beggs, A., Stathopoulou, C., Mason, J., Baker, A-M., Williams, M., Cerundolo, V., Rei, M., Taylor, J. C., Schuh, A., Ahmed, A., Amant, F., & 6 othersLambrechts, D., Smit, V. T., Bosse, T., Graham, T. A., Church, D. N. & Tomlinson, I., 31 Mar 2018, (E-pub ahead of print) In: Journal of Pathology.

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    34 Citations (Scopus)
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  • The evolutionary landscape of colorectal tumorigenesis

    Arnold, R., Chegwidden, L., Jiang, X., Palles, C., Tomlinson, I. P. M., S:CORT Consortium & Bach, S., Oct 2018, In: Nature Ecology and Evolution. 2, 10, p. 1661-1672 12 p.

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  • 2017

    Germline variation in inflammation-related pathways and risk of Barrett's oesophagus and oesophageal adenocarcinoma

    Buas, M. F., He, Q., Johnson, L. G., Onstad, L., Levine, D. M., Thrift, A. P., Gharahkhani, P., Palles, C., Lagergren, J., Fitzgerald, R. C., Ye, W., Caldas, C., Bird, N. C., Shaheen, N. J., Bernstein, L., Gammon, M. D., Wu, A. H., Hardie, L. J., Pharoah, P. D., Liu, G., & 20 othersIyer, P., Corley, D. A., Risch, H. A., Chow, W-H., Prenen, H., Chegwidden, L., Love, S., Attwood, S., Moayyedi, P., MacDonald, D., Harrison, R., Watson, P., Barr, H., deCaestecker, J., Tomlinson, I., Jankowski, J., Whiteman, D. C., MacGregor, S., Vaughan, T. L. & Madeleine, M. M., Oct 2017, In: Gut. 66, 10, p. 1739-1747 9 p.

    Research output: Contribution to journal › Article › peer-review

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    20 Citations (Scopus)

  • Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancer

    Rodriguez-Broadbent, H., Law, P. J., Sud, A., Palin, K., Tuupanen, S., Gylfe, A., Hänninen, U. A., Cajuso, T., Tanskanen, T., Kondelin, J., Kaasinen, E., Sarin, A-P., Ripatti, S., Eriksson, J. G., Rissanen, H., Knekt, P., Pukkala, E., Jousilahti, P., Salomaa, V., Palotie, A., & 36 othersRenkonen-Sinisalo, L., Lepistö, A., Böhm, J., Mecklin, J-P., Al-Tassan, N. A., Palles, C., Martin, L., Barclay, E., Farrington, S. M., 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., Passarelli, M. N., Figueiredo, J. C., Buchanan, D. D., Win, A. K., Hopper, J. L., Jenkins, M. A., Lindor, N. M., Newcomb, P. A., Gallinger, S., Conti, D., Schumacher, F., Casey, G., Aaltonen, L. A., Cheadle, J. P., Tomlinson, I. P., Dunlop, M. G. & Houlston, R. S., 15 Jun 2017, In: International Journal of Cancer. 140, 12, p. 2701-2708 8 p.

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    38 Citations (Scopus)

  • Pro-inflammatory fatty acid profile and colorectal cancer risk: A Mendelian randomisation analysis

    May-Wilson, S., Sud, A., Law, P. J., Palin, K., Tuupanen, S., Gylfe, A., Hänninen, U. A., Cajuso, T., Tanskanen, T., Kondelin, J., Kaasinen, E., Sarin, A-P., Eriksson, J. G., Rissanen, H., Knekt, P., Pukkala, E., Jousilahti, P., Salomaa, V., Ripatti, S., Palotie, A., & 34 othersRenkonen-Sinisalo, L., Lepistö, A., Böhm, J., Mecklin, J-P., Al-Tassan, N. A., Palles, C., Farrington, S. M., Timofeeva, M. N., Meyer, B. F., Wakil, S. M., Campbell, H., Smith, C. G., Idziaszczyk, S., Maughan, T. S., Fisher, D., Kerr, R., Kerr, D., Passarelli, M. N., Figueiredo, J. C., Buchanan, D. D., Win, A. K., Hopper, J. L., Jenkins, M. A., Lindor, N. M., Newcomb, P. A., Gallinger, S., Conti, D., Schumacher, F., Casey, G., Aaltonen, L. A., Cheadle, J. P., Tomlinson, I. P., Dunlop, M. G. & Houlston, R. S., Oct 2017, In: European Journal of Cancer. 84, p. 228-238 11 p.

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    39 Citations (Scopus)
  • 2016

    Differential clonal evolution in oesophageal cancers in response to neo-adjuvant chemotherapy

    Findlay, J., Castro-Griner, F., Makino, S., Rayner, E., Kartsonaki, C., Cross, W., Kovac, M. B., Ulahannan, D., Palles, C., Gillies, R. S., MacGregor, T. P., Church, D., Maynard, N. D., Buffa, F. M., Cazier, J-B., Graham, T. A., Wang, L-M., Sharma, R. A., Middleton, M. & Tomlinson, I., 5 Apr 2016, In: Nature Communications. 7, 11111 (2016).

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  • Genome-wide association studies in oesophageal adenocarcinoma and Barrett's oesophagus: a large-scale meta-analysis

    Gharahkhani, P., Fitzgerald, R. C., Vaughan, T. L., Gockel, I., Tomlinson, I., Buas, M. F., May, A., Gerges, C., Anders, M., Becker, J., Kreuser, N., Noder, T., Venerito, M., Veits, L., Schmidt, T., Manner, H., Schmidt, C., Hess, T., Böhmer, A. C., Izbicki, J. R., & 30 othersHölscher, A. H., Lang, H., Lorenz, D., Schumacher, B., Hackelsberger, A., Mayershofer, R., Pech, O., Vashist, Y., Ott, K., Vieth, M., Weismüller, J., Nöthen, M. M., Attwood, S., Barr, H., Chegwidden, L., de Caestecker, J., Harrison, R., Love, S. B., MacDonald, D., Moayyedi, P., Prenen, H., Watson, R. G. P., Iyer, P. G., Anderson, L. A., Bernstein, L., Chow, W-H., Hardie, L. J., Lagergren, J., Barrett's and Esophageal Adenocarcinoma Consortium (BEACON) & Palles, C., 31 Oct 2016, In: The Lancet Oncology. 17, 10, p. 1363-1373 11 p.

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    78 Citations (Scopus)
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  • Mendelian randomisation analysis strongly implicates adiposity with risk of developing colorectal cancer

    Jarvis, D., Mitchell, J. S., Law, P. J., Palin, K., Tuupanen, S., Gylfe, A., Hänninen, 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., & 37 othersPalotie, A., Järvinen, H., Renkonen-Sinisalo, L., Lepistö, A., Böhm, J., Meklin, J-P., Al-Tassan, N. A., Palles, C., Martin, L., Barclay, E., Farrington, S. M., 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., Win, A. K., Hopper, J. L., Jenkins, M. A., Lindor, N. M., Newcomb, P. A., Gallinger, S., Conti, D., Schumacher, F., Casey, G., Taipale, J., Aaltonen, L. A., Cheadle, J. P., Dunlop, M. G., Tomlinson, I. P. & Houlston, R. S., 12 Jul 2016, In: British Journal of Cancer. 115, 2, p. 266-72 7 p.

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    32 Citations (Scopus)

  • Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer

    Chubb, D., Broderick, P., Dobbins, S. E., Frampton, M., Kinnersley, B., Penegar, S., Price, A., Ma, Y. P., Sherborne, A. L., Palles, C., Timofeeva, M. N., Bishop, D. T., Dunlop, M. G., Tomlinson, I. & Houlston, R. S., 22 Jun 2016, In: Nature Communications. 7, 11883.

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    74 Citations (Scopus)

  • The HABP2 G534E variant is an unlikely cause of familial non-medullary thyroid cancer

    Sahasrabudhe, R., Stultz, J., Williamson, J., Lott, P., Estrada, A., Bohorquez, M., Palles, C., Polanco-Echeverry, G., Jaeger, E., Martin, L., Magdalena Echeverry, M., Tomlinson, I., Carvajal-Carmona, L. G. & TCUKIN Consortium, 1 Mar 2016, In: The Journal of clinical endocrinology and metabolism. 10, 3, p. 1098-1103 6 p.

    Research output: Contribution to journal › Article › peer-review

    25 Citations (Scopus)

  • 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., Hänninen, 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., & 37 othersJärvinen, H., Renkonen-Sinisalo, L., Lepistö, A., Böhm, 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., Win, A. K., 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. & Houlston, R. S., 1 Jun 2016, In: Human Molecular Genetics. 25, 11, p. 2349-2359 11 p.

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  • 2015

    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., Pagnamenta, A., Kaur, K., Pita, G., Martin, M., Domingo, E., Jones, A., Howarth, K., Freeman-Mills, L., Johnstone, E., Wang, H., Love, S., Scudder, C., Julier, P., Fernández-Rozadilla, C., Ruiz-Ponte, C., Carracedo, A., Castellvi-Bel, S., Castells, A., Gonzalez-Neira, A., & 6 othersTaylor, J., Kerr, R., Kerr, D., Tomlinson, I., Palles, C. & Tomlinson, I., Jan 2015, In: Gut. 64, 1, p. 111-120 10 p.

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  • Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1

    Cheng, T. H. T., Thompson, D., Painter, J., O'Mara, T., Gorman, M., Martin, L., Palles, C., Jones, A., Buchanan, D. D., Win, A. K., Hopper, J., Jenkins, M., Lindor, N. M., Newcomb, P. A., Gallinger, S., Conti, D., Schumacher, F., Casey, G., Giles, G. G., Pharoah, P., & 81 othersPeto, J., Cox, A., Swerdlow, A., Couch, F., Cunningham, J. M., Goode, E. L., Winham, S. J., Lambrechts, D., Fasching, P., Burwinkel, B., Brenner, H., Brauch, H., Chang-Claude, J., Salvesen, H. B., Kristensen, V., Darabi, H., Li, J., Liu, T., Lindblom, A., Hall, P., de Polanco, M. E., Sans, M., Carracedo, A., Castellvi-Bel, S., Rojas-Martinez, A., Aguiar Jnr, S., Teixeira, M. R., Dunning, A. M., Dennis, J., Otton, G., Proietto, T., Holliday, E., Attia, J., Ashton, K., Scott, R. J., McEvoy, M., Dowdy, S. C., Fridley, B. L., Werner, H. M. J., Trovik, J., Njolstad, T. S., Tham, E., Mints, M., Runnebaum, I., Hillemanns, P., Dörk, T., Amant, F., Schrauwen, S., Hein, A., Beckmann, M. W., Ekici, A., Czene, K., Meindl, A., Bolla, M. K., Michailidou, K., Tyrer, J. P., Wang, Q., Ahmed, S., Healey, C. S., Shah, M., Annibali, D., Depreeuw, J., Al-Tassan, N. A., Harris, R., Meyer, B. F., Whiffin, N., Hosking, F. J., Kinnersley, B., Farrington, S. M., Timofeeva, M., Tenesa, A., Campbell, H., Haile, R. W., Hodgson, S., Carvajal-Carmona, L., Cheadle, J. P., Easton, D., Dunlop, M., Houlston, R., Spurdle, A. & Tomlinson, I., 1 Dec 2015, In: Scientific Reports. 5, 17369.

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  • Polymorphisms near TBX5 and GDF7 are associated with increased risk for Barrett's esophagus

    Palles, C., Chegwidden, L., Li, X., Findlay, J. M., Farnham, G., Castro Giner, F., Peppelenbosch, M. P., Kovac, M., Adams, C. L., Prenen, H., Briggs, S., Harrison, R., Sanders, S., MacDonald, D., Haigh, C., Tucker, A., Love, S., Nanji, M., deCaestecker, J., Ferry, D., & 78 othersRathbone, B., Hapeshi, J., Barr, H., Moayyedi, P., Watson, P., Zietek, B., Maroo, N., Gay, L., Underwood, T., Boulter, L., McMurtry, H., Monk, D., Patel, P., Ragunath, K., Al Dulaimi, D., Murray, I., Koss, K., Veitch, A., Trudgill, N., Nwokolo, C., Rembacken, B., Atherfold, P., Green, E., Ang, Y., Kuipers, E. J., Chow, W., Paterson, S., Kadri, S., Beales, I., Grimley, C., Mullins, P., Beckett, C., Farrant, M., Dixon, A., Kelly, S., Johnson, M., Wajed, S., Dhar, A., Sawyer, E., Roylance, R., Onstad, L., Gammon, M. D., Corley, D. A., Shaheen, N. J., Bird, N. C., Hardie, L. J., Reid, B. J., Ye, W., Liu, G., Romero, Y., Bernstein, L., Wu, A. H., Casson, A. G., Fitzgerald, R., Whiteman, D. C., Risch, H. A., Levine, D. M., Vaughan, T. L., Verhaar, A. P., van den Brande, J., Toxopeus, E. L., Spaander, M. C., Wijnhoven, B. P. L., van der Laan, L. J. W., Krishnadath, K., Wijmenga, C., Trynka, G., McManus, R., Reynolds, J. V., O'Sullivan, J., MacMathuna, P., McGarrigle, S. A., Kelleher, D., Vermeire, S., Cleynen, I., Bisschops, R., Tomlinson, I. & Jankowski, J., Feb 2015, In: Gastroenterology. 148, 2, p. 367-378 12 p.

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  • Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer

    Timofeeva, M. N., Kinnersley, B., Farrington, S. M., Whiffin, N., Palles, C., Svinti, V., Lloyd, A., Gorman, M., Ooi, L-Y., Hosking, F., Barclay, E., Zgaga, L., Dobbins, S., Martin, L., Theodoratou, E., Broderick, P., Tenesa, A., Smillie, C., Grimes, G., Hayward, C., & 41 othersCampbell, A., Porteous, D., Deary, I. J., Harris, S. E., Northwood, E. L., Barrett, J. H., Smith, G., Wolf, R., Forman, D., Morreau, H., Ruano, D., Tops, C., Wijnen, J., Schrumpf, M., Boot, A., Vasen, H. F. A., Hes, F. J., van Wezel, T., Franke, A., Lieb, W., Schafmayer, C., Hampe, J., Buch, S., Propping, P., Hemminki, K., Försti, A., Westers, H., Hofstra, R., Pinheiro, M., Pinto, C., Teixeira, M., Ruiz-Ponte, C., Fernández-Rozadilla, C., Carracedo, A., Castells, A., Castellví-Bel, S., Campbell, H., Bishop, D. T., Tomlinson, I. P. M., Dunlop, M. G. & Houlston, R. S., 10 Nov 2015, In: Scientific Reports. 5, 16286.

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    18 Citations (Scopus)
  • 2014

    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., Church, D., Domingo, E., Jones, A., Johnstone, E., Wang, H., Love, S., Julier, P., Scudder, C., Nicholson, G., Gonzalez-Neira, A., Martin, M., Sargent, D., Green, E., McLeod, H., Zanger, U. M., Schwab, M., Braun, M., Seymour, M., & 24 othersThompson, L., Lacas, B., Boige, V., Ribelles, N., Afzal, S., Enghusen, H., Jensen, S. A., Etienne-Grimaldi, M-C., Milano, G., Wadelius, M., Glimelius, B., Garmo, H., Gusella, M., Lecomte, T., Laurent-Puig, P., Martinez-Balibrea, E., Sharma, R., Garcia-Foncillas, J., Kleibl, Z., Morel, A., Pignon, J-P., Midgley, R., Kerr, D. & Tomlinson, I., 1 Apr 2014, In: Journal of Clinical Oncology . 32, 10, p. 1031-1039 9 p.

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    153 Citations (Scopus)
  • 2013

    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, J-B., Tomlinson, I. P., Carvajal-Carmona, L. G., Palles, C., Lamas, M. J., Baiget, M., López-Fernández, L. A., Brea-Fernández, A., Abulí, A., Bujanda, L., Clofent, J., Gonzalez, D., Xicola, R., Andreu, M., Bessa, X., Jover, R., Llor, X., Moreno, V., Castells, A., & 4 othersCarracedo, Á., Castellvi-Bel, S., Ruiz-Ponte, C. & EPICOLON Consortium, 2013, In: BMC Genomics. 14, p. 55

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    32 Citations (Scopus)

  • DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer

    Church, D. N., Briggs, S. E. W., Palles, C., Domingo, E., Kearsey, S. J., Grimes, J. M., Gorman, M., Martin, L., Howarth, K. M., Hodgson, S. V., Kaur, K., Taylor, J., Tomlinson, I. P. M. & NSECG Collaborators, 15 Jul 2013, In: Human Molecular Genetics. 22, 14, p. 2820-8 9 p.

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    202 Citations (Scopus)

  • Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

    Palles, C., Cazier, J-B., Howarth, K. M., Domingo, E., Jones, A. M., Broderick, P., Kemp, Z., Spain, S. L., Guarino, E., Guarino Almeida, E., Salguero, I., Sherborne, A., Chubb, D., Carvajal-Carmona, L. G., Ma, Y., Kaur, K., Dobbins, S., Barclay, E., Gorman, M., Martin, L., & 19 othersKovac, M. B., Humphray, S., Lucassen, A., Holmes, C. C., Bentley, D., Donnelly, P., Taylor, J., Petridis, C., Roylance, R., Sawyer, E. J., Kerr, D. J., Clark, S., Grimes, J., Kearsey, S. E., Thomas, H. J. W., McVean, G., Houlston, R. S., Tomlinson, I. & Colorectal Tumour Gene Identification (CORGI) Consortium, Feb 2013, In: Nature Genetics. 45, 2, p. 136-44 9 p.

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    601 Citations (Scopus)

  • Pharmacogenomics in colorectal cancer: a genome-wide association study to predict toxicity after 5-fluorouracil or FOLFOX administration

    Fernandez-Rozadilla, C., Cazier, J. B., Moreno, V., Crous-Bou, M., Guinó, E., Durán, G., Lamas, M. J., López, R., Candamio, S., Gallardo, E., Paré, L., Baiget, M., Páez, D., López-Fernández, L. A., Cortejoso, L., García, M. I., Bujanda, L., González, D., Gonzalo, V., Rodrigo, L., & 14 othersReñé, J. M., 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, Jun 2013, In: The Pharmacogenomics Journal. 13, 3, p. 209-17 9 p.

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    34 Citations (Scopus)
  • 2012

    Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus

    Su, Z., Gay, L. J., Strange, A., Palles, C., Band, G., Whiteman, D. C., Lescai, F., Langford, C., Nanji, M., Edkins, S., van der Winkel, A., Levine, D., Sasieni, P., Bellenguez, C., Howarth, K., Freeman, C., Trudgill, N., Tucker, A. T., Pirinen, M., Peppelenbosch, M. P., & 31 othersvan der Laan, L. J. W., Kuipers, E. J., Drenth, J. P. H., Peters, W. H., Reynolds, J. V., Kelleher, D. P., McManus, R., Grabsch, H., Prenen, H., Bisschops, R., Krishnadath, K., Siersema, P. D., van Baal, J. W. P. M., Middleton, M., Petty, R., Gillies, R., Burch, N., Bhandari, P., Paterson, S., Edwards, C., Alderson, D., Gray, E., Anderson, M., Cazier, J-B., Cooper, S. C., Ferry, D., Watson, P., Harrison, R. F., Moayyedi, P., Jankowski, J. A. Z. & Esophageal Adenocarcinoma Genetics Consortium, Oct 2012, In: Nature Genetics. 44, 10, p. 1131-6 6 p.

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    125 Citations (Scopus)

  • Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk

    Dunlop, M. G., Dobbins, S. E., Farrington, S. M., Jones, A. M., Palles, C., Whiffin, N., Tenesa, A., Spain, S., Broderick, P., Ooi, L-Y., Domingo, E., Smillie, C., Henrion, M., Frampton, M., Martin, L., Grimes, G., Gorman, M., Semple, C., Ma, Y. P., Barclay, E., & 31 othersPrendergast, J., Cazier, J-B., Olver, B., Penegar, S., Lubbe, S., Chander, I., Carvajal-Carmona, L. G., Ballereau, S., Lloyd, A., Vijayakrishnan, J., Zgaga, L., Rudan, I., Theodoratou, E., Starr, J. M., Deary, I., Kirac, I., Kovacević, D., Aaltonen, L. A., Renkonen-Sinisalo, L., Mecklin, J-P., Matsuda, K., Nakamura, Y., Okada, Y., Gallinger, S., Duggan, D. J., Conti, D., Newcomb, P., Hopper, J., Jenkins, M. A., Colorectal Tumour Gene Identification (CORGI) Consortium & Maher, E., 2012, In: Nature Genetics. 44, 7, p. 770-6 7 p.

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    177 Citations (Scopus)
  • 2011

    Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer

    Tomlinson, I. P. M., Carvajal-Carmona, L. G., Dobbins, S. E., Tenesa, A., Jones, A. M., Howarth, K., Palles, C., Broderick, P., Jaeger, E. E. M., Farrington, S., Lewis, A., Prendergast, J. G. D., Pittman, A. M., Theodoratou, E., Olver, B., Walker, M., Penegar, S., Barclay, E., Whiffin, N., Martin, L., & 31 othersBallereau, S., Lloyd, A., Gorman, M., Lubbe, S., Howie, B., Marchini, J., Ruiz-Ponte, C., Fernandez-Rozadilla, C., Castells, A., Carracedo, A., Castellvi-Bel, S., Duggan, D., Conti, D., Cazier, J-B., Campbell, H., Sieber, O., Lipton, L., Gibbs, P., Martin, N. G., Montgomery, G. W., Young, J., Baird, P. N., Gallinger, S., Newcomb, P., Hopper, J., Jenkins, M. A., Aaltonen, L. A., Kerr, D. J., Cheadle, J., Pharoah, P. & COGENT Consortium, Jun 2011, In: PLoS Genetics. 7, 6, p. e1002105

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    163 Citations (Scopus)