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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 R ; Capella, Gabriel

Gut, 2018-07, Vol.67 (7), p.1306-1316 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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Título:
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
Autor: 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 R ; Capella, Gabriel
Assuntos: Age ; Age Factors ; Aged ; Bile ducts ; Brain tumors ; Breast cancer ; Colon ; Colonic Neoplasms - epidemiology ; Colorectal cancer ; Colorectal carcinoma ; Colorectal Neoplasms, Hereditary Nonpolyposis - complications ; Colorectal Neoplasms, Hereditary Nonpolyposis - mortality ; Colorectal Neoplasms, Hereditary Nonpolyposis - pathology ; Databases, Factual ; Duodenum ; Endometrial cancer ; Endometrium ; Female ; Gastrointestinal tract ; Gender ; Genes ; Genetic disorders ; Gynecology ; Health risk assessment ; Humans ; Incidence ; Male ; Medicin och hälsovetenskap ; MLH1 protein ; MSH2 protein ; MSH6 protein ; Mutation ; Ovarian cancer ; Pancreas ; Pancreatic cancer ; Pancreatic Neoplasms - epidemiology ; Patients ; Prospective Studies ; Prostate cancer ; Stomach ; Surveillance ; Survival ; Ureter ; Urinary bladder ; Urinary tract ; Urogenital Neoplasms - epidemiology ; Urogenital system
É parte de: Gut, 2018-07, Vol.67 (7), p.1306-1316
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
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Descrição: BackgroundMost 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 designThis observational, international, multicentre study aimed to determine prospectively observed incidences of cancers and survival in path_MMR carriers up to 75 years of age.Results3119 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.ConclusionCarriers 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.
Editor: England: BMJ Publishing Group LTD
Idioma: Inglês;Norueguês

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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

England: BMJ Publishing Group LTD

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