Charlotte Kvist Lautrup

Large scale multifactorial likelihood quantitative analysis of <i>BRCA1</i> and <i>BRCA2</i> variants: An ENIGMA resource to support clinical variant classification

Michael T. Parsons, Emma Tudini, Hongyan Li et al. · Human Mutation · 2019 · 152 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study

Aung Ko Win, James G. Dowty, Jeanette C. Reece et al. · The Lancet Oncology · 2021 · 118 citations · Full text

Medicine, Genetics, Oncology +16

Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes

Anna Byrjalsen, Thomas van Overeem Hansen, Ulrik Kristoffer Stoltze et al. · PLoS Genetics · 2020 · 114 citations · Full text

Life Sciences, Genetics, Oncology +17

Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults: Recommendations for Genetic Diagnosis, Clinical Management and Follow-up

Panagiotis Baliakas, Bianca Tesi, Ulla Wartiovaara‐Kautto et al. · HemaSphere · 2019 · 94 citations · Full text

Life Sciences, Genetics, Hematology +17

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

Toni T. Seppälä, Aysel Ahadova, Mev Dominguez–Valentin et al. · Hereditary Cancer in Clinical Practice · 2019 · 63 citations · Full text

Medicine, Oncology, Pathology +17