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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 05493naa a2201321 4500 | |
| 001 | oai:prod.swepub.kib.ki.se:147047742 | |
| 003 | SwePub | |
| 008 | 240701s2021 | |||||||||||000 ||eng| | |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1470477422 URI |
| 024 | 7 | a https://doi.org/10.3390/jcm101328562 DOI |
| 040 | a (SwePub)ki | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Dominguez-Valentin, M4 aut |
| 245 | 1 0 | a No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study |
| 264 | c 2021-06-28 | |
| 264 | 1 | b MDPI AG,c 2021 |
| 520 | a Background. Lynch syndrome is the most common genetic predisposition for hereditary cancer. Carriers of pathogenic changes in mismatch repair (MMR) genes have an increased risk of developing colorectal (CRC), endometrial, ovarian, urinary tract, prostate, and other cancers, depending on which gene is malfunctioning. In Lynch syndrome, differences in cancer incidence (penetrance) according to the gene involved have led to the stratification of cancer surveillance. By contrast, any differences in penetrance determined by the type of pathogenic variant remain unknown. Objective. To determine cumulative incidences of cancer in carriers of truncating and missense or aberrant splicing pathogenic variants of the MLH1 and MSH2 genes. Methods. Carriers of pathogenic variants of MLH1 (path_MLH1) and MSH2 (path_MSH2) genes filed in the Prospective Lynch Syndrome Database (PLSD) were categorized as truncating or missense/aberrant splicing according to the InSiGHT criteria for pathogenicity. Results. Among 5199 carriers, 1045 had missense or aberrant splicing variants, and 3930 had truncating variants. Prospective observation years for the two groups were 8205 and 34,141 years, respectively, after which there were no significant differences in incidences for cancer overall or for colorectal cancer or endometrial cancers separately. Conclusion. Truncating and missense or aberrant splicing pathogenic variants were associated with similar average cumulative incidences of cancer in carriers of path MLH1 and path_MSH2. | |
| 700 | 1 | a Plazzer, JP4 aut |
| 700 | 1 | a Sampson, JR4 aut |
| 700 | 1 | a Engel, C4 aut |
| 700 | 1 | a Aretz, S4 aut |
| 700 | 1 | a Jenkins, MA4 aut |
| 700 | 1 | a Sunde, L4 aut |
| 700 | 1 | a Bernstein, I4 aut |
| 700 | 1 | a Capella, G4 aut |
| 700 | 1 | a Balaguer, F4 aut |
| 700 | 1 | a Macrae, F4 aut |
| 700 | 1 | a Winship, IM4 aut |
| 700 | 1 | a Thomas, H4 aut |
| 700 | 1 | a Evans, DG4 aut |
| 700 | 1 | a Burn, J4 aut |
| 700 | 1 | a Greenblatt, M4 aut |
| 700 | 1 | a Cappel, WHDTN4 aut |
| 700 | 1 | a Sijmons, RH4 aut |
| 700 | 1 | a Nielsen, M4 aut |
| 700 | 1 | a Bertario, L4 aut |
| 700 | 1 | a Bonanni, B4 aut |
| 700 | 1 | a Tibiletti, MG4 aut |
| 700 | 1 | a Cavestro, GM4 aut |
| 700 | 1 | a Lindblom, Au Karolinska Institutet4 aut |
| 700 | 1 | a Della Valle, A4 aut |
| 700 | 1 | a Lopez-Kostner, F4 aut |
| 700 | 1 | a Alvarez, K4 aut |
| 700 | 1 | a Gluck, N4 aut |
| 700 | 1 | a Katz, L4 aut |
| 700 | 1 | a Heinimann, K4 aut |
| 700 | 1 | a Vaccaro, CA4 aut |
| 700 | 1 | a Nakken, S4 aut |
| 700 | 1 | a Hovig, E4 aut |
| 700 | 1 | a Green, K4 aut |
| 700 | 1 | a Lalloo, F4 aut |
| 700 | 1 | a Hill, J4 aut |
| 700 | 1 | a Vasen, HFA4 aut |
| 700 | 1 | a Perne, C4 aut |
| 700 | 1 | a Buttner, R4 aut |
| 700 | 1 | a Gorgens, H4 aut |
| 700 | 1 | a Holinski-Feder, E4 aut |
| 700 | 1 | a Morak, M4 aut |
| 700 | 1 | a Holzapfel, S4 aut |
| 700 | 1 | a Huneburg, R4 aut |
| 700 | 1 | a Doeberitz, MV4 aut |
| 700 | 1 | a Loeffler, M4 aut |
| 700 | 1 | a Rahner, N4 aut |
| 700 | 1 | a Weitz, J4 aut |
| 700 | 1 | a Steinke-Lange, V4 aut |
| 700 | 1 | a Schmiegel, W4 aut |
| 700 | 1 | a Vangala, D4 aut |
| 700 | 1 | a Crosbie, EJ4 aut |
| 700 | 1 | a Pineda, M4 aut |
| 700 | 1 | a Navarro, M4 aut |
| 700 | 1 | a Brunet, J4 aut |
| 700 | 1 | a Moreira, L4 aut |
| 700 | 1 | a Sanchez, A4 aut |
| 700 | 1 | a Serra-Burriel, M4 aut |
| 700 | 1 | a Mints, M4 aut |
| 700 | 1 | a Kariv, R4 aut |
| 700 | 1 | a Rosner, G4 aut |
| 700 | 1 | a Pinero, TA4 aut |
| 700 | 1 | a Pavicic, WH4 aut |
| 700 | 1 | a Kalfayan, P4 aut |
| 700 | 1 | a ten Broeke, SW4 aut |
| 700 | 1 | a Mecklin, JP4 aut |
| 700 | 1 | a Pylvanainen, K4 aut |
| 700 | 1 | a Renkonen-Sinisalo, L4 aut |
| 700 | 1 | a Lepisto, A4 aut |
| 700 | 1 | a Peltomaki, P4 aut |
| 700 | 1 | a Hopper, JL4 aut |
| 700 | 1 | a Win, AK4 aut |
| 700 | 1 | a Buchanan, DD4 aut |
| 700 | 1 | a Lindor, NM4 aut |
| 700 | 1 | a Gallinger, S4 aut |
| 700 | 1 | a Le Marchand, L4 aut |
| 700 | 1 | a Newcomb, PA4 aut |
| 700 | 1 | a Figueiredo, JC4 aut |
| 700 | 1 | a Thibodeau, SN4 aut |
| 700 | 1 | a Therkildsen, C4 aut |
| 700 | 1 | a Hansen, TVO4 aut |
| 700 | 1 | a Lindberg, L4 aut |
| 700 | 1 | a Rodland, EA4 aut |
| 700 | 1 | a Neffa, F4 aut |
| 700 | 1 | a Esperon, P4 aut |
| 700 | 1 | a Tjandra, D4 aut |
| 700 | 1 | a Moslein, G4 aut |
| 700 | 1 | a Seppala, TT4 aut |
| 700 | 1 | a Moller, P4 aut |
| 710 | 2 | a Karolinska Institutet4 org |
| 773 | 0 | t Journal of clinical medicined : MDPI AGg 10:13q 10:13x 2077-0383 |
| 856 | 4 | u https://www.mdpi.com/2077-0383/10/13/2856/pdf |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:147047742 |
| 856 | 4 8 | u https://doi.org/10.3390/jcm10132856 |
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- Dominguez-Valent ...
- Plazzer, JP
- Sampson, JR
- Engel, C
- Aretz, S
- Jenkins, MA
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- Sunde, L
- Bernstein, I
- Capella, G
- Balaguer, F
- Macrae, F
- Winship, IM
- Thomas, H
- Evans, DG
- Burn, J
- Greenblatt, M
- Cappel, WHDTN
- Sijmons, RH
- Nielsen, M
- Bertario, L
- Bonanni, B
- Tibiletti, MG
- Cavestro, GM
- Lindblom, A
- Della Valle, A
- Lopez-Kostner, F
- Alvarez, K
- Gluck, N
- Katz, L
- Heinimann, K
- Vaccaro, CA
- Nakken, S
- Hovig, E
- Green, K
- Lalloo, F
- Hill, J
- Vasen, HFA
- Perne, C
- Buttner, R
- Gorgens, H
- Holinski-Feder, ...
- Morak, M
- Holzapfel, S
- Huneburg, R
- Doeberitz, MV
- Loeffler, M
- Rahner, N
- Weitz, J
- Steinke-Lange, V
- Schmiegel, W
- Vangala, D
- Crosbie, EJ
- Pineda, M
- Navarro, M
- Brunet, J
- Moreira, L
- Sanchez, A
- Serra-Burriel, M
- Mints, M
- Kariv, R
- Rosner, G
- Pinero, TA
- Pavicic, WH
- Kalfayan, P
- ten Broeke, SW
- Mecklin, JP
- Pylvanainen, K
- Renkonen-Sinisal ...
- Lepisto, A
- Peltomaki, P
- Hopper, JL
- Win, AK
- Buchanan, DD
- Lindor, NM
- Gallinger, S
- Le Marchand, L
- Newcomb, PA
- Figueiredo, JC
- Thibodeau, SN
- Therkildsen, C
- Hansen, TVO
- Lindberg, L
- Rodland, EA
- Neffa, F
- Esperon, P
- Tjandra, D
- Moslein, G
- Seppala, TT
- Moller, P
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