Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome DatabaseMev Dominguez–Valentin, Steven Gallinger, Monika Morak et al.|Genetics in Medicine|2019Cited by 666
Cancer risk and genotype–phenotype correlations in PTEN hamartoma tumor syndromeMarry H. Nieuwenhuis, Hans F. A. Vasen, C. Marleen Kets et al.|Familial Cancer|2013Cited by 163
Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome databaseMev Dominguez–Valentin, Maria Grazia Tibiletti, Saskia Haupt et al.|EClinicalMedicine|2023Cited by 120
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndromeMargot A. Cousin, Amy Kritzer, Damaris N. Lorenzo et al.|Nature Genetics|2021Cited by 110
Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortiumPål Møller, Leandro Apolinário da Silva, Toni T. Seppälä et al.|Hereditary Cancer in Clinical Practice|2022Cited by 61