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Cancer risk and survival in path _ MMR carriers by gene and gender up to 75 years of age: a report from the prospective Lynch Syndrome database

Møller, Pål, Seppälä, Toni T, Bernstein, Inge, Holinski-Feder, Elke, Sala, Paulo, Gareth Evans, D, Lindblom, Annika, Macrae, Finlay, Blanco, Ignacio, Sijmons, Rolf H, Jeffries, Jacqueline, Vasen, Hans F A, Burn, John, Nakken, Sigve, Hovig, Eivind, Rødland, Einar Andreas, Tharmaratnam, Kukatharmini, de Vos tot Nederveen Cappel, Wouter H, Hill, James, Wijnen, Juul T, Jenkins, Mark A, Green, Kate, Lalloo, Fiona, Sunde, Lone, Mints, Miriam, Bertario, Lucio, Pineda, Marta, Navarro, Matilde, Morak, Monika, Renkonen-Sinisalo, Laura, Valentin, Mev Dominguez, Frayling, Ian M, Plazzer, John-Paul, Pylvanainen, Kirsi, Genuardi, Maurizio, Mecklin, Jukka-Pekka, Moeslein, Gabriela, Sampson, Julian and Capella, Gabriel 2017. Cancer risk and survival in path _ MMR carriers by gene and gender up to 75 years of age: a report from the prospective Lynch Syndrome database. Gut 10.1136/gutjnl-2017-314057

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Abstract

Background Most patients with path_MMR gene variants (Lynch syndrome (LS)) now survive both their first and subsequent cancers, resulting in a growing number of older patients with LS for whom limited information exists with respect to cancer risk and survival. Objective and design This observational, international, multicentre study aimed to determine prospectively observed incidences of cancers and survival in path_MMR carriers up to 75 years of age. Results 3119 patients were followed for a total of 24 475 years. Cumulative incidences at 75 years (risks) for colorectal cancer were 46%, 43% and 15% in path_MLH1, path_MSH2 and path_MSH6 carriers; for endometrial cancer 43%, 57% and 46%; for ovarian cancer 10%, 17% and 13%; for upper gastrointestinal (gastric, duodenal, bile duct or pancreatic) cancers 21%, 10% and 7%; for urinary tract cancers 8%, 25% and 11%; for prostate cancer 17%, 32% and 18%; and for brain tumours 1%, 5% and 1%, respectively. Ovarian cancer occurred mainly premenopausally. By contrast, upper gastrointestinal, urinary tract and prostate cancers occurred predominantly at older ages. Overall 5-year survival for prostate cancer was 100%, urinary bladder 93%, ureter 85%, duodenum 67%, stomach 61%, bile duct 29%, brain 22% and pancreas 0%. Path_PMS2 carriers had lower risk for cancer. Conclusion Carriers of different path_MMR variants exhibit distinct patterns of cancer risk and survival as they age. Risk estimates for counselling and planning of surveillance and treatment should be tailored to each patient's age, gender and path_MMR variant. We have updated our open-access website www.lscarisk.org to facilitate this.

Item Type: Article
Date Type: Published Online
Status: Published
Schools: Medicine
Subjects: R Medicine > R Medicine (General)
Publisher: BMJ Publishing Group Ltd
ISSN: 0017-5749
Date of First Compliant Deposit: 31 July 2017
Date of Acceptance: 10 May 2017
Last Modified: 12 Jun 2019 02:31
URI: http://orca.cf.ac.uk/id/eprint/103123

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