Recurrent APC Splice Variant c.835-8A>G in Patients With Unexplained Colorectal Polyposis Fulfilling the Colibactin Mutational Signature

被引:16
作者
Terlouw, Diantha [1 ]
Suerink, Manon [2 ]
Boot, Arnoud [1 ,3 ]
van Wezel, Tom [1 ]
Nielsen, Maartje [2 ]
Morreau, Hans [1 ]
机构
[1] Leiden Univ, Med Ctr, Dept Pathol, Albinusdreef 2, NL-2333 ZA Leiden, Netherlands
[2] Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands
[3] Duke Natl Univ Singapore, Dept Canc & Stem Cell Biol, Med Sch, Singapore, Singapore
关键词
Unexplained Adenomatous Polyposis Coli; Bacterial Infection; Hotspot APC Variant; pks plus E coli; SOMATIC MUTATION; LANDSCAPE;
D O I
10.1053/j.gastro.2020.06.055
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
[No abstract available]
引用
收藏
页码:1612 / +
页数:8
相关论文
共 9 条
  • [1] Precancer in ulcerative colitis: the role of the field effect and its clinical implications
    Baker, Kathryn T.
    Salk, Jesse J.
    Brentnall, Teresa A.
    Risques, Rosa Ana
    [J]. CARCINOGENESIS, 2018, 39 (01) : 11 - 20
  • [2] Characterization of colibactin-associated mutational signature in an Asian oral squamous cell carcinoma and in other mucosal tumor types
    Boot, Arnoud
    Ng, Alvin W. T.
    Chong, Fui Teen
    Ho, Szu-Chi
    Yu, Willie
    Tan, Daniel S. W.
    Iyer, N. Gopalakrishna
    Rozen, Steven G.
    [J]. GENOME RESEARCH, 2020, 30 (06) : 803 - 813
  • [3] Mutational spectrum of APC and genotype-phenotype correlations in Greek FAP patients
    Fostira, Florentia
    Thodi, Georgia
    Sandaltzopoulos, Raphael
    Fountzilas, George
    Yannoukakos, Drakoulis
    [J]. BMC CANCER, 2010, 10
  • [4] Distinct Patterns of Somatic Mosaicism in the APC Gene in Neoplasms From Patients With Unexplained Adenomatous Polyposis
    Jansen, Anne M. L.
    Crobach, Stijn
    Geurts-Giele, Willemina R. R.
    van den Akker, Brendy E. W. M.
    Garcia, Marina Ventayol
    Ruano, Dina
    Nielsen, Maartje
    Tops, Carli M. J.
    Wijnen, Juul T.
    Hes, Frederik J.
    van Wezel, Tom
    Dinjens, Winand N. M.
    Morreau, Hans
    [J]. GASTROENTEROLOGY, 2017, 152 (03) : 546 - +
  • [5] A survey of APC mutations in Quebec
    Jarry, Jonathan
    Brunet, Jean-Sebastien
    Laframboise, Rachel
    Drouin, Regen
    Latreille, Jean
    Richard, Carole
    Gekas, Jean
    Maranda, Bruno
    Monczak, Yury
    Wong, Nora
    Pouchet, Carly
    Zaor, Sonya
    Kasprzak, Lidia
    Palma, Laura
    Wu, Mona Kay
    Tischkowitz, Marc
    Foulkes, William D.
    Chong, George
    [J]. FAMILIAL CANCER, 2011, 10 (04) : 659 - 665
  • [6] The landscape of somatic mutation in normal colorectal epithelial cells
    Lee-Six, Henry
    Olafsson, Sigurgeir
    Ellis, Peter
    Osborne, Robert J.
    Sanders, Mathijs A.
    Moore, Luiza
    Georgakopoulos, Nikitas
    Torrente, Franco
    Noorani, Ayesha
    Goddard, Martin
    Robinson, Philip
    Coorens, Tim H. H.
    O'Neill, Laura
    Alder, Christopher
    Wang, Jingwei
    Fitzgerald, Rebecca C.
    Zilbauer, Matthias
    Coleman, Nicholas
    Saeb-Parsy, Kourosh
    Martincorena, Inigo
    Campbell, Peter J.
    Stratton, Michael R.
    [J]. NATURE, 2019, 574 (7779) : 532 - +
  • [7] Mutational signature in colorectal cancer caused by genotoxic pks+E. coli
    Pleguezuelos-Manzano, Cayetano
    Puschhof, Jens
    Huber, Axel Rosendahl
    van Hoeck, Arne
    Wood, Henry M.
    Nomburg, Jason
    Gurjao, Carino
    Manders, Freek
    Dalmasso, Guillaume
    Stege, Paul B.
    Paganelli, Fernanda L.
    Geurts, Maarten H.
    Beumer, Joep
    Mizutani, Tomohiro
    Miao, Yi
    van der Linden, Reinier
    van der Elst, Stefan
    Garcia, K. Christopher
    Top, Janetta
    Willems, Rob J. L.
    Giannakis, Marios
    Bonnet, Richard
    Quirke, Phil
    Meyerson, Matthew
    Cuppen, Edwin
    van Boxtel, Ruben
    Clevers, Hans
    [J]. NATURE, 2020, 580 (7802) : 269 - +
  • [8] Assessment of a fully automated high-throughput DNA extraction method from formalin-fixed, paraffin-embedded tissue for KRAS, and BRAF somatic mutation analysis
    van Eijk, Ronald
    Stevens, Lisa
    Morreau, Hans
    van Wezel, Tom
    [J]. EXPERIMENTAL AND MOLECULAR PATHOLOGY, 2013, 94 (01) : 121 - 125
  • [9] Clinical Sequencing Defines the Genomic Landscape of Metastatic Colorectal Cancer
    Yaeger, Rona
    Chatila, Walid K.
    Lipsyc, Marla D.
    Hechtman, Jaclyn F.
    Cercek, Andrea
    Sanchez-Vega, Francisco
    Jayakumaran, Gowtham
    Middha, Sumit
    Zehir, Ahmet
    Donoghue, Mark T. A.
    You, Daoqi
    Viale, Agnes
    Kemeny, Nancy
    Segal, Neil H.
    Stadler, Zsofia K.
    Varghese, Anna M.
    Kundra, Ritika
    Gao, Jianjiong
    Syed, Aijazuddin
    Hyman, David M.
    Vakiani, Efsevia
    Rosen, Neal
    Taylor, Barry S.
    Ladanyi, Marc
    Berger, Michael F.
    Solit, David B.
    Shia, Jinru
    Saltz, Leonard
    Schultz, Nikolaus
    [J]. CANCER CELL, 2018, 33 (01) : 125 - +