Meta-analysis of Germline Whole-exome Sequencing in 1435 Cases of Testicular Germ Cell Tumour to Evaluate Disruptive Mutations Under Dominant, Recessive, and X-linked Inheritance Models

Authors: Kuzbari, Zeid ^a, Rowlands, Charlie F. ^a, Wade, Isaac ^a, Garrett, Alice ^{a, b}, Loveday, Chey ^a, Choi, Subin ^a, Torr, Beth ^a, Litchfield, Kevin ^{c, d}, Reid, Alison ^e, Huddart, Robert ^e, Broderick, Peter ^a, Houlston, Richard S. ^a, Turnbull, Clare ^{a, ⁎}

Source: In European Urology Open Science March 2025 73:51-59

Impact of ambient air pollution on colorectal cancer risk and survival: insights from a prospective cohort and epigenetic Mendelian randomization study

Authors: Jiang, Fangyuan ^a, Zhao, Jianhui ^a, Sun, Jing ^a, Chen, Wenxi ^a, Zhao, Yuyuan ^a, Zhou, Siyun ^a, Yuan, Shuai ^b, Timofeeva, Maria ^c, Law, Philip J. ^d, Larsson, Susanna C. ^{b, e}, Chen, Dong ^f, Houlston, Richard S. ^d, Dunlop, Malcolm G. ^g, Theodoratou, Evropi ^{g, h}, Li, Xue ^{a, ∗}

Source: In eBioMedicine May 2024 103

Utility of polygenic risk scores in UK cancer screening: a modelling analysis

Authors: Huntley, Catherine, Torr, Bethany, Sud, Amit, Rowlands, Charlie F, Way, Rosalind, Snape, Katie, Hanson, Helen, Swanton, Charles, Broggio, John, Lucassen, Anneke, McCartney, Margaret, Houlston, Richard S, Hingorani, Aroon D, Jones, Michael E, Turnbull, Clare

Source: Lancet oncology. 24(6):658-668

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100194936553.0x000001&indx=1&recIds=ETOCvdc_100194936553.0x000001

Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer‐specific survival

Authors: Morra, Anna, Schreurs, Maartje A. C., Andrulis, Irene L., Anton‐Culver, Hoda, Augustinsson, Annelie, Beckmann, Matthias W., Behrens, Sabine, Bojesen, Stig E., Bolla, Manjeet K., Brauch, Hiltrud, Broeks, Annegien, Buys, Saundra S., Camp, Nicola J., Castelao, Jose E., Cessna, Melissa H., Chang‐Claude, Jenny, Chung, Wendy K., Sahlberg, Kristine K., Børresen‐Dale, Anne‐Lise, Gram, Inger Torhild, Olsen, Karina Standahl, Engebråten, Olav, Naume, Bjørn, Geisler, Jürgen, Grenaker Alnæs, Grethe I., Colonna, Sarah V., Couch, Fergus J., Cox, Angela, Cross, Simon S., Czene, Kamila, Daly, Mary B., Dennis, Joe, Devilee, Peter, Dörk, Thilo, Dunning, Alison M., Dwek, Miriam, Easton, Douglas F., Eccles, Diana M., Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Fehm, Tanja N., Figueroa, Jonine D., Flyger, Henrik, Gabrielson, Marike, Gago‐Dominguez, Manuela, García‐Closas, Montserrat, García‐Sáenz, José A., Genkinger, Jeanine, Grassmann, Felix, Gündert, Melanie, Hahnen, Eric, Haiman, Christopher A., Hamann, Ute, Harrington, Patricia A., Hartikainen, Jaana M., Hoppe, Reiner, Hopper, John L., Houlston, Richard S., Howell, Anthony, Clarke, Christine, Marsh, Deborah, Scott, Rodney, Baxter, Robert, Yip, Desmond, Carpenter, Jane, Davis, Alison, Pathmanathan, Nirmala, Simpson, Peter, Graham, J. Dinny, Sachchithananthan, Mythily, Amor, David, Andrews, Lesley, Antill, Yoland, Balleine, Rosemary, Beesley, Jonathan, Bennett, Ian, Bogwitz, Michael, Botes, Leon, Brennan, Meagan, Brown, Melissa, Buckley, Michael, Burke, Jo, Butow, Phyllis, Caldon, Liz, Campbell, Ian, Cao, Michelle, Chakrabarti, Anannya, Chauhan, Deepa, Chauhan, Manisha, Chenevix‐Trench, Georgia, Christian, Alice, Cohen, Paul, Colley, Alison, Crook, Ashley, Cui, James, Courtney, Eliza, Cummings, Margaret, Dawson, Sarah‐Jane, DeFazio, Anna, Delatycki, Martin, Dickson, Rebecca, Dixon, Joanne, Edkins, Ted, Edwards, Stacey, Farshid, Gelareh, Fellows, Andrew, Fenton, Georgina, Field, Michael, Flanagan, James, Fong, Peter, Forrest, Laura, Fox, Stephen, French, Juliet, Friedlander, Michael, Gaff, Clara, Gattas, Mike, George, Peter, Greening, Sian, Harris, Marion, Hart, Stewart, Hayward, Nick, Hopper, John, Hoskins, Cass, Hunt, Clare, James, Paul, Jenkins, Mark, Kidd, Alexa, Kirk, Judy, Koehler, Jessica, Kollias, James, Lakhani, Sunil, Lawrence, Mitchell, Lee, Jason, Li, Shuai, Lindeman, Geoff, Lipton, Lara, Lobb, Liz, Loi, Sherene, Mann, Graham, McLachlan, Sue Anne, Meiser, Bettina, Milne, Roger, Nightingale, Sophie, O'Connell, Shona, O'Sullivan, Sarah, Ortega, David Gallego, Pachter, Nick, Pang, Jia‐Min, Pathak, Gargi, Patterson, Briony, Pearn, Amy, Phillips, Kelly, Pieper, Ellen, Ramus, Susan, Rickard, Edwina, Robinson, Bridget, Saleh, Mona, Skandarajah, Anita, Salisbury, Elizabeth, Saunders, Christobel, Saunus, Jodi, Scott, Clare, Sexton, Adrienne, Shelling, Andrew, Southey, Melissa, Spurdle, Amanda, Taylor, Jessica, Taylor, Renea, Thorne, Heather, Trainer, Alison, Tucker, Kathy, Visvader, Jane, Walker, Logan, Williams, Rachael, Winship, Ingrid, Young, Mary Ann, Zaheed, Milita, Jakubowska, Anna, Janni, Wolfgang, Jernström, Helena, John, Esther M., Johnson, Nichola, Jones, Michael E., Kristensen, Vessela N., Kurian, Allison W., Lambrechts, Diether, Le Marchand, Loic, Lindblom, Annika, Lubiński, Jan, Lux, Michael P., Mannermaa, Arto, Mavroudis, Dimitrios, Mulligan, Anna Marie, Muranen, Taru A., Nevanlinna, Heli, Nevelsteen, Ines, Neven, Patrick, Newman, William G., Obi, Nadia, Offit, Kenneth, Olshan, Andrew F., Park‐Simon, Tjoung‐Won, Patel, Alpa V., Peterlongo, Paolo, Phillips, Kelly‐Anne, Plaseska‐Karanfilska, Dijana, Polley, Eric C., Presneau, Nadege, Pylkäs, Katri, Rack, Brigitte, Radice, Paolo, Rashid, Muhammad U., Rhenius, Valerie, Robson, Mark, Romero, Atocha, Saloustros, Emmanouil, Sawyer, Elinor J., Schmutzler, Rita K., Schuetze, Sabine, Scott, Christopher, Shah, Mitul, Smichkoska, Snezhana, Southey, Melissa C., Tapper, William J., Teras, Lauren R., Tollenaar, Rob A. E. M., Tomczyk, Katarzyna, Tomlinson, Ian, Troester, Melissa A., Vachon, Celine M., Veen, Elke M., Wang, Qin, Wendt, Camilla, Wildiers, Hans, Winqvist, Robert, Ziogas, Argyrios, Hall, Per, Pharoah, Paul D. P., Adank, Muriel A., Hollestelle, Antoinette, Schmidt, Marjanka K., Hooning, Maartje J.

Source: Cancer medicine. 12(15):16142-16162

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100191750966.0x000001&indx=1&recIds=ETOCvdc_100191750966.0x000001

Germline variation in RASAL2 may predict survival in patients with RAS‐activated colorectal cancer

Authors: Wills, Christopher, Watts, Katie, Maughan, Timothy S., Fisher, David, Al‐Tassan, Nada A., Houlston, Richard S., Escott‐Price, Valentina, Cheadle, Jeremy P.

Source: Genes, chromosomes & cancer. 62(6):332-341

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100182804718.0x000001&indx=1&recIds=ETOCvdc_100182804718.0x000001

Bidirectional Mendelian randomisation analysis of the relationship between circulating vitamin D concentration and colorectal cancer risk

Authors: He, Yazhou, Zhang, Xiaomeng, Timofeeva, Maria, Farrington, Susan M., Li, Xue, Xu, Wei, Campbell, Harry, Houlston, Richard S., Tomlinson, Ian P., Theodoratou, Evropi, Dunlop, Malcolm G.

Source: International journal of cancer. 150(2):303-307

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100135315421.0x000001&indx=1&recIds=ETOCvdc_100135315421.0x000001

Alcohol consumption, DNA methylation and colorectal cancer risk: Results from pooled cohort studies and Mendelian randomization analysis

Authors: Zhou, Xuan, Wang, Lijuan, Xiao, Jiarui, Sun, Jing, Yu, Lili, Zhang, Han, Meng, Xiangrui, Yuan, Shuai, Timofeeva, Maria, Law, Philip J., Houlston, Richard S., Ding, Kefeng, Dunlop, Malcolm G., Theodoratou, Evropi, Li, Xue

Source: International journal of cancer. 151(1):83-94

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100187492149.0x000001&indx=1&recIds=ETOCvdc_100187492149.0x000001

Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases

Authors: Yngvadottir, Bryndis, Andreou, Avgi, Bassaganyas, Laia, Larionov, Alexey, Cornish, Alex J, Chubb, Daniel, Saunders, Charlie N, Smith, Philip S, Zhang, Huairen, Cole, Yasemin, Research Consortium, Genomics England, Larkin, James, Browning, Lisa, Turajlic, Samra, Litchfield, Kevin, Houlston, Richard S, Maher, Eamonn R

Source: Human molecular genetics. 31(17):3001-3011

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100159662195.0x000001&indx=1&recIds=ETOCvdc_100159662195.0x000001

Elongin C (ELOC/TCEB1)-associated von Hippel–Lindau disease

Authors: Andreou, Avgi, Yngvadottir, Bryndis, Bassaganyas, Laia, Clark, Graeme, Martin, Ezequiel, Whitworth, James, Cornish, Alex J, Houlston, Richard S, Rich, Philip, Egan, Catherine, Hodgson, Shirley V, Warren, Anne Y, Snape, Katie, Maher, Eamonn R

Source: Human molecular genetics. 31(16):2728-2737

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100158929862.0x000001&indx=1&recIds=ETOCvdc_100158929862.0x000001

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

Authors: Watts, Katie, Wills, Christopher, Madi, Ayman, Palles, Claire, Maughan, Timothy S., Kaplan, Richard, Al‐Tassan, Nada A., Kerr, Rachel, Kerr, David J., Houlston, Richard S., Escott‐Price, Valentina, Cheadle, Jeremy P.

Source: International journal of cancer. 151(6):957-966

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100156723709.0x000001&indx=1&recIds=ETOCvdc_100156723709.0x000001

A genome-wide search for determinants of survival in 1926 patients with advanced colorectal cancer with follow-up in over 22,000 patients

Authors: Wills, Christopher, He, Yazhou, Summers, Matthew G., Lin, Yi, Phipps, Amanda I., Watts, Katie, Law, Philip J., Al-Tassan, Nada A., Maughan, Timothy S., Kaplan, Richard, Houlston, Richard S., Peters, Ulrike, Newcomb, Polly A., Chan, Andrew T., Buchanan, Daniel D., Gallinger, Steve, Marchand, Loic L., Pai, Rish K., Shi, Qian, Alberts, Steven R., Gray, Victoria, West, Hannah D., Escott-Price, Valentina, Dunlop, Malcolm G., Cheadle, Jeremy P.

Source: In European Journal of Cancer December 2021 159:247-258

Large-scale cross-cancer fine-mapping of the 5p15.33 region reveals multiple independent signals

Authors: Chen, Hongjie, Majumdar, Arunabha, Wang, Lu, Kar, Siddhartha, Brown, Kevin M., Feng, Helian, Turman, Constance, Dennis, Joe, Easton, Douglas, Michailidou, Kyriaki, Simard, Jacques, Bishop, Timothy, Cheng, Iona C., Huyghe, Jeroen R., Schmit, Stephanie L., O’Mara, Tracy A., Spurdle, Amanda B., Gharahkhani, Puya, Schumacher, Johannes, Jankowski, Janusz, Gockel, Ines, Bondy, Melissa L., Houlston, Richard S., Jenkins, Robert B., Melin, Beatrice, Lesseur, Corina, Ness, Andy R., Diergaarde, Brenda, Olshan, Andrew F., Amos, Christopher I., Christiani, David C., Landi, Maria T., McKay, James D., Brossard, Myriam, Iles, Mark M., Law, Matthew H., MacGregor, Stuart, Beesley, Jonathan, Jones, Michelle R., Tyrer, Jonathan, Winham, Stacey J., Klein, Alison P., Petersen, Gloria, Li, Donghui, Wolpin, Brian M., Eeles, Rosalind A., Haiman, Christopher A., Kote-Jarai, Zsofia, Schumacher, Fredrick R., Brennan, Paul, Chanock, Stephen J., Gaborieau, Valerie, Purdue, Mark P., Pharoah, Paul, Hung, Rayjean J., Amundadottir, Laufey T., Kraft, Peter, Pasaniuc, Bogdan, Lindström, Sara

Source: In Human Genetics and Genomics Advances 8 July 2021 2(3)

Rare disease gene association discovery in the 100,000 Genomes Project

Authors: Cipriani, Valentina, Vestito, Letizia, Magavern, Emma F., Jacobsen, Julius O. B., Arno, Gavin, Behr, Elijah R., Benson, Katherine A., Bertoli, Marta, Bockenhauer, Detlef, Bowl, Michael R., Burley, Kate, Chan, Li F., Chinnery, Patrick, Conlon, Peter J., Costa, Marcos A., Davidson, Alice E., Dawson, Sally J., Elhassan, Elhussein A. E., Flanagan, Sarah E., Futema, Marta, Gale, Daniel P., García-Ruiz, Sonia, Corcia, Cecilia Gonzalez, Griffin, Helen R., Hambleton, Sophie, Hicks, Amy R., Houlden, Henry, Houlston, Richard S., Howles, Sarah A., Kleta, Robert, Lekkerkerker, Iris, Lin, Siying, Liskova, Petra, Mitchison, Hannah H., Morsy, Heba, Mumford, Andrew D., Newman, William G., Neatu, Ruxandra, O’Toole, Edel A., Ong, Albert C. M., Pagnamenta, Alistair T., Rahman, Shamima, Rajan, Neil, Robinson, Peter N., Ryten, Mina, Sadeghi-Alavijeh, Omid, Sayer, John A., Shovlin, Claire L., Taylor, Jenny C., Teltsh, Omri, Tomlinson, Ian, Tucci, Arianna, Turnbull, Clare, van Eerde, Albertien M., Ware, James S., Watts, Laura M., Webster, Andrew R., Westbury, Sarah K., Zheng, Sean L., Caulfield, Mark, Smedley, Damian

Source: Nature; 20250101, Issue: Preprints p1-9, 9p

Copy number evolution and its relationship with patient outcome—an analysis of 178 matched presentation-relapse tumor pairs from the Myeloma XI trial

Authors: Croft, James, Ellis, Sidra, Sherborne, Amy L., Sharp, Kim, Price, Amy, Jenner, Matthew W., Drayson, Mark T., Owen, Roger G., Chown, Sally, Lindsay, Jindriska, Karunanithi, Kamaraj, Hunter, Hannah, Gregory, Walter M., Davies, Faith E., Morgan, Gareth J., Cook, Gordon, Atanesyan, Lilit, Savola, Suvi, Cairns, David A., Jackson, Graham, Houlston, Richard S., Kaiser, Martin F.

Source: Leukemia. 35(7):2043-2053

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100193112090.0x000001&indx=1&recIds=ETOCvdc_100193112090.0x000001

Genome‐wide association studies of toxicity to oxaliplatin and fluoropyrimidine chemotherapy with or without cetuximab in 1800 patients with advanced colorectal cancer

Authors: Watts, Katie, Wills, Christopher, Madi, Ayman, Palles, Claire, Maughan, Timothy S., Kaplan, Richard, Al‐Tassan, Nada A., Kerr, Rachel, Kerr, David, Gray, Victoria, West, Hannah, Houlston, Richard S., Escott‐Price, Valentina, Cheadle, Jeremy P.

Source: International journal of cancer. 149(9):1713-1722

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100187486886.0x000001&indx=1&recIds=ETOCvdc_100187486886.0x000001

A genome-wide search for determinants of survival in 1926 patients with advanced colorectal cancer with follow-up in over 22, 000 patients

Authors: Wills, Christopher, He, Yazhou, Summers, Matthew G., Lin, Yi, Phipps, Amanda I., Watts, Katie, Law, Philip J., Al-Tassan, Nada A., Maughan, Timothy S., Kaplan, Richard, Houlston, Richard S., Peters, Ulrike, Newcomb, Polly A., Chan, Andrew T., Buchanan, Daniel D., Gallinger, Steve, Marchand, Loic L., Pai, Rish K., Shi, Qian, Alberts, Steven R., Gray, Victoria, West, Hannah D., Escott-Price, Valentina, Dunlop, Malcolm G., Cheadle, Jeremy P.

Source: European journal of cancer. 159:247-258

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100150667979.0x000001&indx=1&recIds=ETOCvdc_100150667979.0x000001

Relationship between genetically determined telomere length and glioma risk

Authors: Saunders, Charlie N, Kinnersley, Ben, Culliford, Richard, Cornish, Alex J, Law, Philip J, Houlston, Richard S

Source: Neuro-oncology. 24(2):171-181

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100139940745.0x000001&indx=1&recIds=ETOCvdc_100139940745.0x000001

Partitioned glioma heritability shows subtype-specific enrichment in immune cells

Authors: Ostrom, Quinn T, Edelson, Jacob, Byun, Jinyoung, Han, Younghun, Kinnersley, Ben, Melin, Beatrice, Houlston, Richard S, Monje, Michelle, Walsh, Kyle M, Amos, Christopher I, Bondy, Melissa L

Source: Neuro-oncology. 23(8):1304-1314

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100127023005.0x000001&indx=1&recIds=ETOCvdc_100127023005.0x000001

Search for multiple myeloma risk factors using Mendelian randomization

Authors: Went, Molly ^*, Cornish, Alex J., Law, Philip J., Kinnersley, Ben, van Duin, Mark, Weinhold, Niels, Försti, Asta, Hansson, Markus, Sonneveld, Pieter, Goldschmidt, Hartmut, Morgan, Gareth J., Hemminki, Kari, Nilsson, Björn, Kaiser, Martin, Houlston, Richard S.

Source: In Blood Advances 26 May 2020 4(10):2172-2179

Modifiable pathways for colorectal cancer: a mendelian randomisation analysis

Authors: Cornish, Alex J ^*, Law, Philip J, Timofeeva, Maria, Palin, Kimmo, Farrington, Susan M, Palles, Claire, Jenkins, Mark A, Casey, Graham, Brenner, Hermann, Chang-Claude, Jenny, Hoffmeister, Michael, Kirac, Iva, Maughan, Tim, Brezina, Stefanie, Gsur, Andrea, Cheadle, Jeremy P, Aaltonen, Lauri A, Tomlinson, Ian, Dunlop, Malcolm G, Houlston, Richard S

Source: In The Lancet Gastroenterology & Hepatology January 2020 5(1):55-62