Publications

Lynch Syndrome

Cancer Prevention with Resistant Starch in Lynch Syndrome Patients in the CAPP2-Randomized Placebo Controlled Trial: Planned 10-Year Follow-up.
Mathers JC, Elliott F, Macrae F, Mecklin JP, Möslein G, McRonald FE, Bertario L, Evans DG, Gerdes AM, Ho JWC, Lindblom A, Morrison PJ, Rashbass J, Ramesar RS, Seppälä TT, Thomas HJW, Sheth HJ, Pylvänäinen K, Reed L, Borthwick GM, Bishop DT, Burn J.
Cancer Prev Res (Phila). 2022 Jul 25:OF1-OF12. doi: 10.1158/1940-6207.CAPR-22-0044. Online ahead of print.PMID: 35878732

Response to Chambuso et al.
Dominguez-Valentin M, Sampson JR, Seppälä TT, Møller P.
Genet Med. 2022 May;24(5):1151. doi: 10.1016/j.gim.2022.01.005. Epub 2022 Feb 23.PMID: 35216900 No abstract available.

The Different Immune Profiles of Normal Colonic Mucosa in Cancer-Free Lynch Syndrome Carriers and Lynch Syndrome Colorectal Cancer Patients.
Bohaumilitzky L, Kluck K, Hüneburg R, Gallon R, Nattermann J, Kirchner M, Kristiansen G, Hommerding O, Pfuderer PL, Wagner L, Echterdiek F, Kösegi S, Müller N, Fischer K, Nelius N, Hartog B, Borthwick G, Busch E, Haag GM, Bläker H, Möslein G, von Knebel Doeberitz M, Seppälä TT, Ahtiainen M, Mecklin JP, Bishop DT, Burn J, Stenzinger A, Budczies J, Kloor M, Ahadova A.
Gastroenterology. 2022 Mar;162(3):907-919.e10. doi: 10.1053/j.gastro.2021.11.029. Epub 2021 Dec 2.PMID: 34863788

Towards evidence-based personalised precision medicine for Lynch syndrome.
Møller P, Sampson JR, Dominguez-Valentin M, Seppälä TT.
Lancet Oncol. 2021 Sep;22(9):e383. doi: 10.1016/S1470-2045(21)00400-9.PMID: 34478667 No abstract available.

Distinct Mutational Profile of Lynch Syndrome Colorectal Cancers Diagnosed under Regular Colonoscopy Surveillance.
Ahadova A, Pfuderer PL, Ahtiainen M, Ballhausen A, Bohaumilitzky L, Kösegi S, Müller N, Tang YL, Kosmalla K, Witt J, Endris V, Stenzinger A, von Knebel Doeberitz M, Bläker H, Renkonen-Sinisalo L, Lepistö A, Böhm J, Mecklin JP, Seppälä TT, Kloor M.J
Clin Med. 2021 Jun 1;10(11):2458. doi: 10.3390/jcm10112458.PMID: 34206061

No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study.
Dominguez-Valentin M, Plazzer JP, Sampson JR, Engel C, Aretz S, Jenkins MA, Sunde L, Bernstein I, Capella G, Balaguer F, Macrae F, Winship IM, Thomas H, Evans DG, Burn J, Greenblatt M, de Vos Tot Nederveen Cappel WH, Sijmons RH, Nielsen M, Bertario L, Bonanni B, Tibiletti MG, Cavestro GM, Lindblom A, Valle AD, 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, Büttner R, Görgens H, Holinski-Feder E, Morak M, Holzapfel S, Hüneburg R, von Knebel Doeberitz M, Loeffler M, Rahner N, Weitz J, Steinke-Lange V, Schmiegel W, Vangala D, Crosbie EJ, Pineda M, Navarro M, Brunet J, Moreira L, Sánchez A, Serra-Burriel M, Mints M, Kariv R, Rosner G, Piñero TA, Pavicic WH, Kalfayan P, Broeke SWT, Mecklin JP, Pylvänäinen K, Renkonen-Sinisalo L, Lepistö A, Peltomäki P, Hopper JL, Win AK, Buchanan DD, Lindor NM, Gallinger S, Marchand LL, Newcomb PA, Figueiredo JC, Thibodeau SN, Therkildsen C, Hansen TVO, Lindberg L, Rødland EA, Neffa F, Esperon P, Tjandra D, Möslein G, Seppälä TT, Møller
P.J Clin Med. 2021 Jun 28;10(13):2856. doi: 10.3390/jcm10132856.PMID: 34203177

Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study.
International Mismatch Repair Consortium.Lancet Oncol. 2021 Jul;22(7):1014-1022. doi: 10.1016/S1470-2045(21)00189-3. Epub 2021 Jun 7.PMID: 34111421

Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.
Toni T.Seppälä, Mev Dominguez-Valentin, Emma J.Crosbie. …Pål Møller
European Journal of Cancer Volume 148, May 2021, Pages 124-133

The "unnatural" history of colorectal cancer in Lynch syndrome: Lessons from colonoscopy surveillance.
Ahadova A, Seppälä TT, Engel C,.. Kloor M.
Review Int J Cancer. 2021 Feb 15;148(4):800-811. doi: 10.1002/ijc.33224. Epub 2020 Aug 3.

Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.
Dominguez-Valentin M, Crosbie EJ, Engel C, ----, Møller P.
Genet Med. 2020 Dec 1. doi: 10.1038/s41436-020-01029-1. Epub ahead of print. PMID: 33257847.

CAPP2 Investigators. Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study: a double-blind, randomised, placebo-controlled trial. Randomized Controlled Trial
Burn J, Sheth H, Elliott F,..., Bishop DT;
Lancet. 2020 Jun 13;395(10240):1855-1863. doi: 10.1016/S0140-6736(20)30366-4.

Recent advances in Lynch syndrome. Fam Cancer. 2020 Aug 8. doi: 10.1007/s10689-020-00200-6.
Møller P, Sampson J, Dominguez-Valentin M, Burn J, Sunde L, Möslein G, Mecklin JP, Seppälä T.
Epub ahead of print. PMID: 32770425.

Associations of Pathogenic Variants in MLH1, MSH2, and MSH6 With Risk of Colorectal Adenomas and Tumors and With Somatic Mutations in Patients With Lynch Syndrome. Observational Study.
Engel C, Ahadova A, Seppälä TT, ..., Vasen HF; German HNPCC Consortium, the Dutch Lynch Syndrome Collaborative Group; Finnish Lynch Syndrome Registry.
Gastroenterology. 2020 Apr;158(5):1326-1333. doi: 10.1053/j.gastro.2019.12.032. Epub 2020 Jan 8.

Analysis in the Prospective Lynch Syndrome Database identifies sarcoma as part of the Lynch syndrome tumor spectrum.
Dominguez-Valentin M, Sampson JR, Møller P, Seppälä TT; PLSD Collaborators.
Int J Cancer. 2021 Jan 15;148(2):512-513. doi: 10.1002/ijc.33214. Epub 2020 Jul 30. PMID: 32783184.

Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome Database.
Dominguez-Valentin M, Seppälä TT, Engel C, ---, Crosbie EJ.
J Clin Med. 2020 Jul 18;9(7):2290. doi: 10.3390/jcm9072290. PMID: 32708519; PMCID: PMC7408942.

Prospective observational data informs understanding and future management of Lynch syndrome: insights from the Prospective Lynch Syndrome Database (PLSD).
Seppälä TT, Dominguez-Valentin M, Sampson JR, Møller P.
Fam Cancer. 2021 Jan;20(1):35-39. doi: 10.1007/s10689-020-00193-2. Epub 2020 Jun 8. PMID: 32507935; PMCID: PMC7870755.

Response to Tolva et al.
Sampson JR, Dominguez-Valentin M, Seppälä TT, Møller P.
Genet Med. 2020 Apr;22(4):813-814. doi: 10.1038/s41436-019-0717-5. Epub 2019 Dec 5. PMID: 31801985.

The Prospective Lynch Syndrome Database reports enable evidence-based personal precision health care.
Møller, P.
Hered Cancer Clin Pract 18, 6 (2020).

Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report.
Dominguez-Valentin, M., Seppälä, T.T., Sampson, J.R. --- Møller, P.
Hered Cancer Clin Pract 17, 28 (2019).

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.
Dominguez-Valentin MD, Sampson JR, Seppälä TT, …. , Møller P (2019).
Genet Med 2019 Jul 24

Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report.
Seppälä TT, Ahadova A, Dominguez-Valentin M, Macrae F, …, Møller P (2019).
Hered Cancer Clin Pract. 2019 Feb 28;17:8

Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report.
Seppälä T, Pylvänäinen K, Evans DG, … , Møller P; Mallorca Group (2017).
Hered Cancer Clin Pract. 2017 Oct 10;15

No Difference in Colorectal Cancer Incidence or Stage at Detection by Colonoscopy Among 3 Countries With Different Lynch Syndrome Surveillance Policies.
Engel C, Vasen HF, Seppälä T, …., Loeffler M; German HNPCC Consortium, the Dutch Lynch Syndrome Collaborative Group, and the Finnish Lynch Syndrome Registry.
Gastroenterology. 2018 Nov;155(5):1400-1409.e2. doi: 10.1053/j.gastro.2018.07.030. Epub 2018 Jul 29.

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 P, Seppälä T, Bernstein I, … , Capella G; Mallorca Group (2018).
Gut 2018 Jul;67(7):1306-1316

Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database.
Møller P, Seppälä T, Bernstein I, … , Capella G; Mallorca Group (2017).
Gut 2017 Sep;66(9):1657-1664

Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database.
Møller P, Seppälä T, Bernstein I, … , Möslein G; Mallorca Group (2017).
Gut 2017 Mar;66(3):464-472.

Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers.
Sjursen W, Haukanes BI, Grindedal EM, ..., Møller P.
J Med Genet. 2010 Sep;47(9):579-85. doi: 10.1136/jmg.2010.077677. Epub 2010 Jun 28. PMID: 20587412; PMCID: PMC2976029.

Germ-line mutations in mismatch repair genes associated with prostate cancer.
Grindedal EM, Møller P, Eeles R,..., Maehle L.
Cancer Epidemiol Biomarkers Prev. 2009 Sep;18(9):2460-7. doi: 10.1158/1055-9965.EPI-09-0058.

Familial endometrial cancer in female carriers of MSH6 germline mutations.
Wijnen J, de Leeuw W, Vasen H, ..., Fodde R.
Nat Genet. 1999 Oct;23(2):142-4. doi: 10.1038/13773.

CAPP2 Investigators. Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome. Randomized Controlled Trial.
Burn J, Bishop DT, Mecklin JP,..., Mathers JC
N Engl J Med. 2008 Dec 11;359(24):2567-78. doi: 10.1056/NEJMoa0801297.

Prevalence of adenomas and hyperplastic polyps in mismatch repair mutation carriers among CAPP2 participants: report by the colorectal adenoma/carcinoma prevention programme 2.
Liljegren A, Barker G, Elliott F,..., Bishop DT.
J Clin Oncol. 2008 Jul 10;26(20):3434-9. doi: 10.1200/JCO.2007.13.2795.

FAP/MAP/Peutz-Jegher

Duodenal Adenomas and Cancer in MUTYH-associated Polyposis: An International Cohort Study.
Gastroenterology. 2021 Feb;160(3):952-954.e4. doi: 10.1053/j.gastro.2020.10.038. Epub 2020 Oct 31.

A randomized placebo-controlled prevention trial of aspirin and/or resistant starch in young people with familial adenomatous polyposis. Randomized Controlled Trial.
Cancer Prev Res (Phila). 2011 May;4(5):655-65. doi: 10.1158/1940-6207.CAPR-11-0106.

Surgical considerations in FAP-related pouch surgery: Could we do better?
Review Fam Cancer. 2016 Jul;15(3):457-66. doi: 10.1007/s10689-016-9904-6.

Surgical management of the duodenal manifestations of familial adenomatous polyposis. Review.
Br J Surg. 2011 Apr;98(4):480-4. doi: 10.1002/bjs.7374. Epub 2011 Jan 6.

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