Please use this identifier to cite or link to this item:
http://hdl.handle.net/2445/207822
Title: | Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database. |
Author: | Dominguez Valentin, Mev Haupt, Saskia Seppälä, Toni T. Sampson, Julian R. Sunde, Lone Bernstein, Inge Jenkins, Mark A. Engel, Christoph Aretz, Stefan Nielsen, Maartje Capellá, G. (Gabriel) Half, Elizabeth Stakelum, Aine Winter, Des Kennelly, Rory Gluck, Nathan Sheth, Harsh Abu-Freha, Naim Greenblatt, Marc Rossi, Benedito Mauro Bohorquez, Mabel Rossi, Norma Teresa Cavestro, Giulia Martina Lino-Silva, Leonardo S. Horisberger, Karoline Tibiletti, Maria Grazia Nascimento, Ivana Thomas, Huw Apolinário da Silva, Leandro Zaránd, Attila Ruiz Bañobre, Juan Heuveline, Vincent Mecklin, Jukka Pekka Pylvänäinen, Kirsi Renkonen Sinisalo, Laura Lepisto, Anna Peltomäki, Päivi Lindor, Noralane M. Therkildsen, Christina Madsen, Mia Gebauer Burgdorf, Stefan Kobbelgaard Hopper, John L. Ko Win, Aung Haile, Robert W. Gallinger, Steven Le Marchand, Loïc Newcomb, Polly A. Figueiredo, Jane C. Buchanan, Daniel D Thibodeau, Steven N. von Knebel Doeberitz, Magnus Loeffler, Markus Rahner, Nils Redler, Silke Schröck, Evelin Steinke-Lange, Verena Schmiegel, Wolff Vangala, Deepak Perne, Claudia Hüneburg, Robert Büttner, Reinhard Weitz, Jürgen Pineda Riu, Marta Dueñas, Nuria Brunet, Joan Moreira Ruiz, Leticia Sánchez, Ariadna Hovig, Eivind Nakken, Sigve Tjandra, Douglas Green, Kate Lalloo, Fiona Hill, James Crosbie, Emma J. Mints, Miriam Goldberg, Yael Ten Broeke, Sanne W. Kariv, Revital Rosner, Guy Advani, Suresh H. Thomas, Lidiya Shah, Pankaj Shah, Mithun Neffa, Florencia Esperon, Patricia Balaguer Prunés, Francesc Pavicic, Walter Hernán Torrezan, Giovana Tardin Bassaneze, Thiago Martin, Claudia Möslein, Gabriela Møller, Pål Evans, D. Gareth Burn, John Holinski-Feder, Elke Bertario, Lucio Bonanni, Bernardo Lindblom, Annika Levi, Zohar Macrae, Finlay Winship, Ingrid Plazzer, John Paul Sijmons, Rolf Laghi, Luigi Della Valle, Adriana Heinimann, Karl Dębniak, Tadeusz Fruscio, Robert López-Koestner, Francisco Alvarez-Valenzuela, Karin Katz, Lior H. Laish, Ido Vainer, Elez Vaccaro, Carlos Alberto Carraro, Dirce Maria Monahan, Kevin |
Keywords: | Mortalitat Càncer colorectal Colonoscòpia Diagnòstic Mortality Colorectal cancer Colonoscopy Diagnosis |
Issue Date: | 20-Mar-2023 |
Publisher: | Elsevier |
Abstract: | Background: The Prospective Lynch Syndrome Database (PLSD) collates information on carriers of pathogenic or likely pathogenic MMR variants (path_MMR) who are receiving medical follow-up, including colonoscopy surveillance, which aims to the achieve early diagnosis and treatment of cancers. Here we use the most recent PLSD cohort that is larger and has wider geographical representation than previous versions, allowing us to present mortality as an outcome, and median ages at cancer diagnoses for the first time. Methods: The PLSD is a prospective observational study without a control group that was designed in 2012 and updated up to October 2022. Data for 8500 carriers of path_MMR variants from 25 countries were included, providing 71,713 years of follow up. Cumulative cancer incidences at 65 years of age were combined with 10-year crude survival following cancer, to derive estimates of mortality up to 75 years of age by organ, gene, and gender. Findings: Gynaecological cancers were more frequent than colorectal cancers in path_MSH2, path_MSH6 and path_PMS2 carriers [cumulative incidence: 53.3%, 49.6% and 23.3% at 75 years, respectively]. Endometrial, colon and ovarian cancer had low mortality [8%, 13% and 15%, respectively] and prostate cancers were frequent in male path_MSH2 carriers [cumulative incidence: 39.7% at 75 years]. Pancreatic, brain, biliary tract and ureter and kidney and urinary bladder cancers were associated with high mortality [83%, 66%, 58%, 27%, and 29%, respectively]. Among path_MMR carriers undergoing colonoscopy surveillance, particularly path_MSH2 carriers, more deaths followed non-colorectal Lynch syndrome cancers than colorectal cancers. Interpretation: In path_MMR carriers undergoing colonoscopy surveillance, non-colorectal Lynch syndrome cancers were associated with more deaths than were colorectal cancers. Reducing deaths from non-colorectal cancers presents a key challenge in contemporary medical care in Lynch syndrome. Funding: We acknowledge funding from the Norwegian Cancer Society, contract 194751-2017. |
Note: | Reproducció del document publicat a: https://doi.org/10.1016/j.eclinm.2023.101909 |
It is part of: | eClinicalMedicine, 2023, vol. 58 |
URI: | http://hdl.handle.net/2445/207822 |
Related resource: | https://doi.org/10.1016/j.eclinm.2023.101909 |
ISSN: | 2589-5370 |
Appears in Collections: | Articles publicats en revistes (Ciències Clíniques) Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
Files in This Item:
File | Description | Size | Format | |
---|---|---|---|---|
826563.pdf | 377.11 kB | Adobe PDF | View/Open |
This item is licensed under a Creative Commons License