E055 – Cancer predisposition and biomarkers

Objectives

The main objective of the Cancer Predisposition and Biomarkers group is the characterization of the genetic factors of cancer. This information is of particular relevance when it comes to elucidating the biological mechanisms responsible for the appearance of tumors, which is essential for the development of new therapies. In addition, they allow us to devise risk stratification strategies that could be used to complement current population screening programs.

Lines of research

The work of the Cancer Predisposition and Biomarkers group is focused on the analysis of how genomics together with other omic data can be used to identify those individuals most susceptible to developing cancer, mainly in the field of colorectal cancer. To do this, we use tools such as GWAS, TWAS and MWAS, which allow us to identify the genes responsible for the development of this disease.
Other lines of work in which we are currently involved include the intersection between single cell transcriptomics and liquid biopsy approaches in various types of tumors, transcriptomic and genomic measures of response to immunotherapy, the study of the mechanisms responsible for the appearance of resistance to treatment in cancer stem cells or the genetic predisposition to the appearance of adverse reactions to chemotherapeutic drugs.

• Bonjoch L; Fernandez-Rozadilla C; Alvarez-Barona M; et al; Ruiz-Ponte C. BMPR2 as a Novel Predisposition Gene for Hereditary Colorectal Polyposis, Gastroenterology (2023), doi: 10.1053/j.gastro.2023.03.006.
• Fernandez-Rozadilla C, Timofeeva M, Chen Z, Law P, Thomas M, Schmit S, Díez-Obrero V, Hsu L, Fernandez-Tajes J, Palles C, Sherwood K, Briggs S, Svinti V, Donnelly K, Farrington S, Blackmur J, Vaughan-Shaw P, Shu XO, Long J, Cai Q, Guo X, Lu Y, Broderick P, Studd J, Huyghe J, Harrison T, Conti D, Dampier C, Devall M, Schumacher F, Melas M, Rennert G, Obón-Santacana M, Martín-Sánchez V, Moratalla-Navarro F, Oh JH, Kim J, Jee SH, Jung KJ, Kweon SS, Shin MH, Shin A, Ahn YO, Kim DH, Oze I, Wen W, Matsuo K, Matsuda K, Tanikawa C, Ren Z, Gao YT, Jia WH, Hopper J, Jenkins M, Win AK, Pai R, Figueiredo J, Haile R, Gallinger S, Woods M, Newcomb P, Duggan D, Cheadle J, Kaplan R, Maughan T, Kerr R, Kerr D, Kirac I, Böhm J, Mecklin LP, Jousilahti P, Knekt P, Aaltonen L, Rissanen H, Pukkala E, Eriksson J, Cajuso T, Hänninen U, Kondelin J, Palin K, Tanskanen T, Renkonen-Sinisalo L, Zanke B, Männistö S, Albanes D, Weinstein S, Ruiz-Narvaez E, Palmer J, Buchanan D, Platz E, Visvanathan K, Ulrich C, Siegel E, Brezina S, Gsur A, Campbell P, Chang-Claude J, Hoffmeister M, Brenner H, Slattery M, Potter J, Tsilidis K, Schulze M, Gunter M, Murphy N, Castells A, Castellví-Bel S, Moreira L, Arndt V, Shcherbina A, Stern M, Pardamean B, Bishop T, Giles G, Southey M, Idos G, McDonnell K, Abu-Ful Z, Greenson J, Shulman K, Lejbkowicz F, Offit K, Su YR, Steinfelder R, Keku T, van Guelpen B, Hudson T, Hampel H, Pearlman R, Berndt S, Hayes R, Martinez ME, Thomas S, Corley D, Pharoah P, Larsson S, Yen Y, Lenz HJ, White E, Li L, Doheny K, Pugh E, Shelford T, Chan A, Cruz-Correa M, Lindblom A, Hunter D, Joshi A, Schafmayer C, Scacheri P, Kundaje A, Nickerson D, Schoen R, Hampe J, Stadler Z, Vodicka P, Vodickova L, Vymetalkova V, Papadopoulos N, Edlund C, Gauderman W, Thomas D, Shibata D, Toland A, Markowitz S, Kim A, Chanock S, van Duijnhoven F, Feskens E, Sakoda L, Gago-Dominguez M, Wolk A, Naccarati A, Pardini B, FitzGerald L, Lee SC, Ogino S, Bien S, Kooperberg C, Li C, Lin Y, Prentice R, Qu C, Bézieau S, Tangen C, Mardis E, Yamaji T, Sawada N, Iwasaki M, Haiman C, Le Marchand L, Wu A, Qu C, McNeil C, Coetzee G, Hayward C, Deary I, Harris S, Theodoratou E, Reid S, Walker M, Ooi LY, Moreno V, Casey G, Gruber S, Tomlinson I, Zheng W, Dunlop M, Houlston R, Peters U. Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries. Nat Genet. 2022, 55, 89–99 (2023). doi: 10.1038/s41588-022-01222-9.
• Fernández-Rozadilla C, Álvarez-Barona M, Quintana I, López-Novo A, Amigo J, Cameselle-Teijeiro JM, Roman E, Gonzalez D, Llor X, Bujanda L, Bessa X, Jover R, Balaguer F, Castells A, Castellví-Bel S, Capellá G, Carracedo A, Valle L, Ruiz-Ponte C. Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer. Sci Rep. 2021 May 27;11(1):11135. doi: 10.1038/s41598-021-90590-z.
• Fernandez-Rozadilla C, Simões AR, Lleonart ME, Carnero A, Carracedo Á. Tumor Profiling at the Service of Cancer Therapy. Front Oncol. 2021 Jan 11;10:595613. doi: 10.3389/fonc.2020.595613.
• Simões AR, Fernández-Rozadilla C, Maroñas O, Carracedo Á. The Road so Far in Colorectal Cancer Pharmacogenomics: Are We Closer to Individualised Treatment? J Pers Med. 2020 Nov 19;10(4):237. doi: 10.3390/jpm10040237.
• Fernandez-Rozadilla C, Alvarez-Barona M, Schamschula E, Bodo S, Lopez-Novo A, Dacal A, Calviño-Costas C, Lancho A, Amigo J, Bello X, Cameselle-Teijeiro JM, Carracedo A, Colas C, Muleris M, Wimmer K, Ruiz-Ponte C. Early Colorectal Cancers Provide New Evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum. Cancers (Basel). 2019 Jul 30;11(8):1081. doi: 10.3390/cancers1108108.
• Law PJ, Timofeeva M, Fernandez-Rozadilla C, […], Dunlop MG. Association analyses identify 31 new risk loci for colorectal cancer susceptibility. Nat Commun. 2019 May 14;10(1):2154. doi: 10.1038/s41467-019-09775-w.
• Fernandez-Rozadilla C, Kartsonaki C, Woolley C, McClellan M, Whittington D, Horgan G, Leedham S, Kriaucionis S, East J, Tomlinson I. Telomere length and genetics are independent colorectal tumour risk factors in an evaluation of biomarkers in normal bowel. Br J Cancer. 2018 Mar 6;118(5):727-732. doi: 10.1038/bjc.2017.486. Erratum in: Br J Cancer. 2018 Jun;118(12):1683. doi: 10.1038/s41416-018-0111-0.