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.

doi:10.1053/j.gastro.2019.12.032

Article

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.

Gastroenterology - 1 Apr 2020

Engel Christoph, Ahadova Aysel, Seppälä Toni T, Aretz Stefan, Bigirwamungu-Bargeman Marloes, Bläker Hendrik, Bucksch Karolin, Büttner Reinhard, de Vos Tot Nederveen Cappel Wouter T, Endris Volker, Holinski-Feder Elke, Holzapfel Stefanie, Hüneburg Robert, Jacobs Maarten A J M, Koornstra Jan J, Langers Alexandra M, Lepistö Anna, Morak Monika, Möslein Gabriela, Peltomäki Päivi, Pylvänäinen Kirsi, Rahner Nils, Renkonen-Sinisalo Laura, Schulmann Karsten, Steinke-Lange Verena, Stenzinger Albrecht, Strassburg Christian P, van de Meeberg Paul C, van Kouwen Mariette, van Leerdam Monique, Vangala Deepak B, Vecht Juda, Verhulst Marie-Louise, von Knebel Doeberitz Magnus, Weitz Jürgen, Zachariae Silke, Loeffler Markus, Mecklin Jukka-Pekka, Kloor Matthias, Vasen Hans F

Abstract excerpt

BACKGROUND & AIMS: Lynch syndrome is caused by variants in DNA mismatch repair (MMR) genes and associated with an increased risk of colorectal cancer (CRC). In patients with Lynch syndrome, CRCs can develop via different pathways. We studied associations between Lynch syndrome-associated variants in MMR genes and risks of adenoma and CRC and somatic mutations in APC and CTNNB1 in tumors in an international cohort...

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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.

Abstract excerpt

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