De novo germline pathogenic variant in Lynch Syndrome: A rare event or the tip of the iceberg?

Lynch Syndrome: A Single Hereditary Cancer Syndrome or Multiple Syndromes Defined by Different Mismatch Repair Genes?

(2023) Laura Valle   Gastroenterology

OncoPan®: An NGS-Based Screening Methodology to Identify Molecular Markers for Therapy and Risk Assessment in Pancreatic Ductal Adenocarcinoma

(2022) Maria Grazia Tibiletti et al.   Biomedicines

A case of strongly suspected Lynch syndrome with colorectal neuroendocrine carcinoma

(2022) Naoya Kobayashi et al.   Surgical Case Reports

A de novo pathogenic variant in the MSH6 gene in a 52 years-old woman

(2021) Elise Pierre-Noël et al.   Familial Cancer

Molecular tumor testing in patients with Lynch-like syndrome reveals a de novo mosaic variant of a mismatch repair gene transmitted to offspring

(2020) Erell Guillerm et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Somatic mosaicism by a de novo MLH1 mutation as a cause of Lynch syndrome

(2019) Willemina R. Geurts‐Giele et al.   Molecular Genetics & Genomic Medicine

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

(2019) Mev Dominguez-Valentin et al.   GENETICS IN MEDICINE

Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations

(2015) L Golmard et al.   ONCOGENE

Somatic mosaicism and double somatic hits can lead to MSI colorectal tumors

(2012) Isabelle Sourrouille et al.   Familial Cancer

Rate of de novo mutations and the importance of father’s age to disease risk

(2012) Augustine Kong et al.   NATURE

Ade novogermlineMLH1mutation in a Lynch syndrome patient with discordant immunohistochemical and molecular biology test results

(2012) Fabrice Airaud   WORLD JOURNAL OF GASTROENTEROLOGY

Determining the frequency of de novo germline mutations in DNA mismatch repair genes

(2011) A. K. Win et al.   JOURNAL OF MEDICAL GENETICS