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European Journal of Human Genetics : EJHG|June 9, 2026
Hereditary cancer: Germline testing practices across ERN GENTURIS member countriesMilena Kiljańczyk, Zanda Daneberga, Mikk Tooming, et al.Melanoma Research|August 30, 2019
Evaluation of the contribution of germline variants in BRCA1 and BRCA2 to uveal and cutaneous melanomaPeter A Johansson, Vaishnavi Nathan, Lauren M Bourke, et al.Plos Genetics|December 17, 2020
Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromesAnna Byrjalsen, Thomas V O Hansen, Ulrik K Stoltze, et al.The Journal of Allergy and Clinical Immunology|August 15, 2024
Variants in IGLL1 cause a broad phenotype from agammaglobulinemia to transient hypogammaglobulinemiaMaarja Soomann, Viktor Bily, Magdeldin Elgizouli, et al.International Journal of Molecular Sciences|May 14, 2022
Recurrent Germline Variant in RAD21 Predisposes Children to Lymphoblastic Leukemia or LymphomaAnne Schedel, Ulrike Anne Friedrich, Mina N F Morcos, et al.Journal of the National Cancer Institute|December 16, 2014
Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanomaLauren G Aoude, Antonia L Pritchard, Carla Daniela Robles-Espinoza, et al.Journal of the National Cancer Institute|December 6, 2018
Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families WorldwideSebastian Walpole, Antonia L Pritchard, Colleen M Cebulla, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 22, 2020
Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome DatabaseMev Dominguez-Valentin, Julian R Sampson, Toni T Seppälä, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 25, 2019
Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome DatabaseMev Dominguez-Valentin, Julian R Sampson, Toni T Seppälä, et al.Hereditary Cancer in Clinical Practice|October 1, 2022
Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortiumPål Møller, Toni Seppälä, James G Dowty, et al.Pageof 6