Publications

Lynch Syndrome

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

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

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

Burn J, Sheth H, Elliott F,..., Bishop DT;
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
Lancet. 2020 Jun 13;395(10240):1855-1863. doi: 10.1016/S0140-6736(20)30366-4.

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

Engel C, Ahadova A, Seppälä TT, ..., Vasen HF; German HNPCC Consortium, the Dutch Lynch Syndrome Collaborative Group; Finnish Lynch Syndrome Registry.
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.
Gastroenterology. 2020 Apr;158(5):1326-1333. doi: 10.1053/j.gastro.2019.12.032. Epub 2020 Jan 8.

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

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

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

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

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

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

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

Seppälä TT, Ahadova A, Dominguez-Valentin M, Macrae F, …, Møller P (2019).
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.
Hered Cancer Clin Pract. 2019 Feb 28;17:8

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

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

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

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

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

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

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

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

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

Liljegren A, Barker G, Elliott F,..., Bishop DT.
Prevalence of adenomas and hyperplastic polyps in mismatch repair mutation carriers among CAPP2 participants: report by the colorectal adenoma/carcinoma prevention programme 2.
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.

This template is made with by Colorlib
+