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DOI 10.1016/j.eclinm.2023.101909

Медицинская библиотека · EClinicalMedicine · 2023

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.

Dominguez-Valentin Mev, Haupt Saskia, Seppälä Toni T, Sampson Julian R, Sunde Lone, Bernstein Inge, Jenkins Mark A, Engel Christoph, Aretz Stefan, Nielsen Maartje, Capella Gabriel, Balaguer Francesc, Evans Dafydd 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, Lopez-Koestner Francisco, Alvarez-Valenzuela Karin, Katz Lior H, Laish Ido, Vainer Elez, Vaccaro Carlos, Carraro Dirce Maria, Monahan Kevin, Half Elizabeth, Stakelum Aine, Winter Des, Kennelly Rory, Gluck Nathan, Sheth Harsh, Abu-Freha Naim, Greenblatt Marc, Rossi Benedito Mauro, Bohorquez Mabel, Cavestro Giulia Martina, Lino-Silva Leonardo S, Horisberger Karoline, Tibiletti Maria Grazia, Nascimento Ivana do, Thomas Huw, Rossi Norma Teresa, Apolinário da Silva Leandro, Zaránd Attila, Ruiz-Bañobre Juan, Heuveline Vincent, Mecklin Jukka-Pekka, Pylvänäinen Kirsi, Renkonen-Sinisalo Laura, Lepistö Anna, Peltomäki Päivi, Therkildsen Christina, Madsen Mia Gebauer, Burgdorf Stefan Kobbelgaard, Hopper John L, Win Aung Ko, Haile Robert W, Lindor Noralane, Gallinger Steven, Le Marchand Loïc, Newcomb Polly A, Figueiredo Jane, Buchanan Daniel D, Thibodeau Stephen N, von Knebel Doeberitz Magnus, Loeffler Markus, Rahner Nils, Schröck Evelin, Steinke-Lange Verena, Schmiegel Wolff, Vangala Deepak, Perne Claudia, Hüneburg Robert, Redler Silke, Büttner Reinhard, Weitz Jürgen, Pineda Marta, Duenas Nuria, Vidal Joan Brunet, Moreira Leticia, Sánchez Ariadna, Hovig Eivind, Nakken Sigve, Green Kate, Lalloo Fiona, Hill James, Crosbie Emma, Mints Miriam, Goldberg Yael, Tjandra Douglas, Ten Broeke Sanne W, Kariv Revital, Rosner Guy, Advani Suresh H, Thomas Lidiya, Shah Pankaj, Shah Mithun, Neffa Florencia, Esperon Patricia, Pavicic Walter, Torrezan Giovana Tardin, Bassaneze Thiago, Martin Claudia Alejandra, Moslein Gabriela, Moller Pål

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Аннотация

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.

Для цитирования: Dominguez-Valentin Mev, Haupt Saskia, Seppälä Toni T, Sampson Julian R, Sunde Lone, Bernstein Inge, Jenkins Mark A, Engel Christoph, Aretz Stefan, Nielsen Maartje, Capella Gabriel, Balaguer Francesc, Evans Dafydd 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, Lopez-Koestner Francisco, Alvarez-Valenzuela Karin, Katz Lior H, Laish Ido, Vainer Elez, Vaccaro Carlos, Carraro Dirce Maria, Monahan Kevin, Half Elizabeth, Stakelum Aine, Winter Des, Kennelly Rory, Gluck Nathan, Sheth Harsh, Abu-Freha Naim, Greenblatt Marc, Rossi Benedito Mauro, Bohorquez Mabel, Cavestro Giulia Martina, Lino-Silva Leonardo S, Horisberger Karoline, Tibiletti Maria Grazia, Nascimento Ivana do, Thomas Huw, Rossi Norma Teresa, Apolinário da Silva Leandro, Zaránd Attila, Ruiz-Bañobre Juan, Heuveline Vincent, Mecklin Jukka-Pekka, Pylvänäinen Kirsi, Renkonen-Sinisalo Laura, Lepistö Anna, Peltomäki Päivi, Therkildsen Christina, Madsen Mia Gebauer, Burgdorf Stefan Kobbelgaard, Hopper John L, Win Aung Ko, Haile Robert W, Lindor Noralane, Gallinger Steven, Le Marchand Loïc, Newcomb Polly A, Figueiredo Jane, Buchanan Daniel D, Thibodeau Stephen N, von Knebel Doeberitz Magnus, Loeffler Markus, Rahner Nils, Schröck Evelin, Steinke-Lange Verena, Schmiegel Wolff, Vangala Deepak, Perne Claudia, Hüneburg Robert, Redler Silke, Büttner Reinhard, Weitz Jürgen, Pineda Marta, Duenas Nuria, Vidal Joan Brunet, Moreira Leticia, Sánchez Ariadna, Hovig Eivind, Nakken Sigve, Green Kate, Lalloo Fiona, Hill James, Crosbie Emma, Mints Miriam, Goldberg Yael, Tjandra Douglas, Ten Broeke Sanne W, Kariv Revital, Rosner Guy, Advani Suresh H, Thomas Lidiya, Shah Pankaj, Shah Mithun, Neffa Florencia, Esperon Patricia, Pavicic Walter, Torrezan Giovana Tardin, Bassaneze Thiago, Martin Claudia Alejandra, Moslein Gabriela, Moller Pål. 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.. EClinicalMedicine. 2023. DOI: 10.1016/j.eclinm.2023.101909.
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