The “unnatural” history of colorectal cancer in Lynch syndrome: Lessons from colonoscopy surveillance

A Ahadova, TT Seppälä, C Engel… - … journal of cancer, 2021 - Wiley Online Library
Individuals with Lynch syndrome (LS), one of the most common inherited cancer syndromes,
are at increased risk of developing malignancies, in particular colorectal cancer (CRC) …

The Prospective Lynch Syndrome Database reports enable evidence-based personal precision health care

P Møller - Hereditary Cancer in Clinical Practice, 2020 - Springer
The aims of the Prospective Lynch Syndrome Database (PLSD) are to provide empirical
prospectively observed data on the incidences of cancer in different organs, survival …

[HTML][HTML] Lynch syndrome genetics and clinical implications

P Peltomäki, M Nyström, JP Mecklin, TT Seppälä - Gastroenterology, 2023 - Elsevier
Lynch syndrome (LS) is one of the most prevalent hereditary cancer syndromes in humans
and accounts for some 3% of unselected patients with colorectal or endometrial cancer and …

Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair …

P Møller, T Seppälä, JG Dowty, S Haupt… - Hereditary cancer in …, 2022 - Springer
Objective To compare colorectal cancer (CRC) incidences in carriers of pathogenic variants
of the MMR genes in the PLSD and IMRC cohorts, of which only the former included …

Hereditary colorectal, gastric, and pancreatic cancer: comprehensive review

TT Seppälä, RA Burkhart, BW Katona - BJS open, 2023 - academic.oup.com
Background Inheritance patterns show familial clustering of gastrointestinal cancers, and
multiple germline conditions have now been identified that predispose to colorectal, gastric …

Dominantly inherited micro-satellite instable cancer–the four Lynch syndromes-an EHTG, PLSD position statement

P Møller, TT Seppälä, A Ahadova, EJ Crosbie… - Hereditary cancer in …, 2023 - Springer
The recognition of dominantly inherited micro-satellite instable (MSI) cancers caused by
pathogenic variants in one of the four mismatch repair (MMR) genes MSH2, MLH1, MSH6 …

Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome …

M Dominguez-Valentin, EJ Crosbie, C Engel… - Genetics in …, 2021 - nature.com
Purpose To determine impact of risk-reducing hysterectomy and bilateral salpingo-
oophorectomy (BSO) on gynecological cancer incidence and death in heterozygotes of …

Immunology of lynch syndrome

DM Pastor, J Schlom - Current Oncology Reports, 2021 - Springer
Abstract Purpose of Review Patients with Lynch syndrome have a high probability of
developing colorectal and other carcinomas. This review provides a comprehensive …

Lynch syndrome: a single hereditary cancer syndrome or multiple syndromes defined by different mismatch repair genes?

L Valle - Gastroenterology, 2023 - gastrojournal.org
See “A 'two-in-one hit'model of shortcut carcinogenesis in MLH1 Lynch syndrome carriers,”
by Ahadova A, Stenzinger A, Seppälä T, et al, on page 267, and “Molecular profile of MSH6 …

Prospective observational data informs understanding and future management of Lynch syndrome: insights from the Prospective Lynch Syndrome Database (PLSD)

TT Seppälä, M Dominguez-Valentin, JR Sampson… - Familial cancer, 2021 - Springer
Abstract The Prospective Lynch Syndrome Database (PLSD) has been developed as an
international, multicentre, prospective, observational study that aims to provide age and …