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Cancer incidence an...
Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database
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Moller, P (author)
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Seppala, T (author)
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Bernstein, I (author)
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Holinski-Feder, E (author)
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Sala, P (author)
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Evans, DG (author)
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- Lindblom, A (author)
- Karolinska Institutet
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Macrae, F (author)
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Blanco, I (author)
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Sijmons, R (author)
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Jeffries, J (author)
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Vasen, H (author)
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Burn, J (author)
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Nakken, S (author)
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Hovig, E (author)
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Rodland, EA (author)
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Tharmaratnam, K (author)
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Cappel, WHDTN (author)
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Hill, J (author)
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Wijnen, J (author)
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Green, K (author)
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Lalloo, F (author)
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Sunde, L (author)
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- Mints, M (author)
- Karolinska Institutet
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Bertario, L (author)
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Pineda, M (author)
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Navarro, M (author)
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Morak, M (author)
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Renkonen-Sinisalo, L (author)
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Frayling, IM (author)
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Plazzer, JP (author)
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Pylvanainen, K (author)
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Sampson, JR (author)
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Capella, G (author)
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Mecklin, JP (author)
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Moslein, G (author)
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(creator_code:org_t)
- 2015-12-09
- 2017
- English.
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In: Gut. - : BMJ. - 1468-3288 .- 0017-5749. ; 66:3, s. 464-472
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https://gut.bmj.com/...
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http://kipublication...
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https://doi.org/10.1...
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Abstract
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- Estimates of cancer risk and the effects of surveillance in Lynch syndrome have been subject to bias, partly through reliance on retrospective studies. We sought to establish more robust estimates in patients undergoing prospective cancer surveillance.DesignWe undertook a multicentre study of patients carrying Lynch syndrome-associated mutations affectingMLH1,MSH2,MSH6orPMS2. Standardised information on surveillance, cancers and outcomes were collated in an Oracle relational database and analysed by age, sex and mutated gene.Results1942 mutation carriers without previous cancer had follow-up including colonoscopic surveillance for 13 782 observation years. 314 patients developed cancer, mostly colorectal (n=151), endometrial (n=72) and ovarian (n=19). Cancers were detected from 25 years onwards inMLH1andMSH2mutation carriers, and from about 40 years inMSH6andPMS2carriers. Among first cancer detected in each patient the colorectal cancer cumulative incidences at 70 years by gene were 46%, 35%, 20% and 10% forMLH1, MSH2, MSH6andPMS2mutation carriers, respectively. The equivalent cumulative incidences for endometrial cancer were 34%, 51%, 49% and 24%; and for ovarian cancer 11%, 15%, 0% and 0%. Ten-year crude survival was 87% after any cancer, 91% if the first cancer was colorectal, 98% if endometrial and 89% if ovarian.ConclusionsThe four Lynch syndrome-associated genes had different penetrance and expression. Colorectal cancer occurred frequently despite colonoscopic surveillance but resulted in few deaths. Using our data, a website has been established athttp://LScarisk.orgenabling calculation of cumulative cancer risks as an aid to genetic counselling in Lynch syndrome.
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- art (subject category)
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Gut
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- By the author/editor
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Moller, P
-
Seppala, T
-
Bernstein, I
-
Holinski-Feder, ...
-
Sala, P
-
Evans, DG
-
show more...
-
Lindblom, A
-
Macrae, F
-
Blanco, I
-
Sijmons, R
-
Jeffries, J
-
Vasen, H
-
Burn, J
-
Nakken, S
-
Hovig, E
-
Rodland, EA
-
Tharmaratnam, K
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Cappel, WHDTN
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Hill, J
-
Wijnen, J
-
Green, K
-
Lalloo, F
-
Sunde, L
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Mints, M
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Bertario, L
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Pineda, M
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Navarro, M
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Morak, M
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Renkonen-Sinisal ...
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Frayling, IM
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Plazzer, JP
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Pylvanainen, K
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Sampson, JR
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Capella, G
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Mecklin, JP
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Moslein, G
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show less...
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Gut
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Karolinska Institutet