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.
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.
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DOI：
10.1136/gutjnl-2017-314057
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发表时间：
2018-07
期刊：
影响因子：
24.5
通讯作者：
Mallorca Group
中科院分区：
文献类型：
--
作者：
Møller P;Seppälä TT;Bernstein I;Holinski-Feder E;Sala P;Gareth Evans D;Lindblom A;Macrae F;Blanco I;Sijmons RH;Jeffries J;Vasen HFA;Burn J;Nakken S;Hovig E;Rødland EA;Tharmaratnam K;de Vos Tot Nederveen Cappel WH;Hill J;Wijnen JT;Jenkins MA;Green K;Lalloo F;Sunde L;Mints M;Bertario L;Pineda M;Navarro M;Morak M;Renkonen-Sinisalo L;Valentin MD;Frayling IM;Plazzer JP;Pylvanainen K;Genuardi M;Mecklin JP;Moeslein G;Sampson JR;Capella G;Mallorca Group
大多数患有path_MMR基因变异的患者（Lynch综合征（LS））现在在首次和随后的癌症中都存活了下来，导致越来越多的老年LS患者在癌症风险和生存方面的信息有限。这项国际多中心观察性研究旨在确定75岁以下path_MMR携带者的癌症发病率和生存率。3119例患者共随访24475年。在path_MLH1、path_MSH2和path_MSH6携带者中，75岁时结直肠癌的累积发病率（风险）分别为46%、43%和15%；子宫内膜癌分别为43%，57%和46%；卵巢癌是10% 17% 13%；上消化道（胃、十二指肠、胆管或胰腺）癌症分别为21%、10%和7%；泌尿道癌症的比例分别为8%，25%和11%；前列腺癌的比例分别为17% 32%和18%脑肿瘤的发病率分别为1%，5%和1%。卵巢癌主要发生在绝经前。相比之下，上胃肠道、泌尿道和前列腺癌主要发生在老年人身上。前列腺癌的总体5年生存率为100%，膀胱93%，输尿管85%，十二指肠67%，胃61%，胆管29%，脑22%，胰腺0%。Path_PMS2携带者患癌症的风险较低。随着年龄的增长，不同path_MMR变异的携带者表现出不同的癌症风险和生存模式。应根据每个患者的年龄、性别和path_MMR变异，对监测和治疗的咨询和规划进行风险估计。我们已经更新了我们的开放获取网站www.lscarisk.org以促进这一点。
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. 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. 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. 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.
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影响因子：
2.2
作者：
Talseth-Palmer, Bente A.;Wijnen, Juul T.;Grice, Desma M.;Scott, Rodney J.
通讯作者：
Scott, Rodney J.
影响因子：
2.2
作者：
Barrow, P. J.;Ingham, S.;Evans, D. G.
通讯作者：
Evans, D. G.
影响因子：
24.5
作者：
Møller P;Seppälä T;Bernstein I;Holinski-Feder E;Sala P;Evans DG;Lindblom A;Macrae F;Blanco I;Sijmons R;Jeffries J;Vasen H;Burn J;Nakken S;Hovig E;Rødland EA;Tharmaratnam K;de Vos Tot Nederveen Cappel WH;Hill J;Wijnen J;Jenkins M;Green K;Lalloo F;Sunde L;Mints M;Bertario L;Pineda M;Navarro M;Morak M;Renkonen-Sinisalo L;Frayling IM;Plazzer JP;Pylvanainen K;Genuardi M;Mecklin JP;Möslein G;Sampson JR;Capella G;Mallorca Group (http://mallorca-group.org)
通讯作者：
Mallorca Group (http://mallorca-group.org)
影响因子：
24.5
作者：
Møller P;Seppälä T;Bernstein I;Holinski-Feder E;Sala P;Evans DG;Lindblom A;Macrae F;Blanco I;Sijmons R;Jeffries J;Vasen H;Burn J;Nakken S;Hovig E;Rødland EA;Tharmaratnam K;de Vos Tot Nederveen Cappel WH;Hill J;Wijnen J;Green K;Lalloo F;Sunde L;Mints M;Bertario L;Pineda M;Navarro M;Morak M;Renkonen-Sinisalo L;Frayling IM;Plazzer JP;Pylvanainen K;Sampson JR;Capella G;Mecklin JP;Möslein G;Mallorca Group (http://mallorca-group.eu)
通讯作者：
Mallorca Group (http://mallorca-group.eu)
影响因子：
1.7
作者：
Grindedal EM;Aarset H;Bjørnevoll I;Røyset E;Mæhle L;Stormorken A;Heramb C;Medvik H;Møller P;Sjursen W
通讯作者：
Sjursen W