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Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|March 12, 2025
Update on Cancer Screening Recommendations for Individuals with Li-Fraumeni SyndromeMaria Isabel Achatz, Anita Villani, Alison A Bertuch, et al.Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|November 14, 2024
Update on Pediatric Surveillance Recommendations for PTEN Hamartoma Tumor Syndrome, DICER1-Related Tumor Predisposition, and Tuberous Sclerosis ComplexKris Ann P Schultz, Suzanne P MacFarland, Melissa R Perrino, et al.Human Mutation|October 6, 2009
Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHDChristopher J Ricketts, Julia R Forman, Eleanor Rattenberry, et al.Human Molecular Genetics|March 6, 2016
Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expressionJoel Smith, Martin L Read, Jon Hoffman, et al.Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|February 12, 2025
Update on Cancer and Central Nervous System Tumor Surveillance in Pediatric NF2-, SMARCB1-, and LZTR1-Related SchwannomatosisMelissa R Perrino, Marjolijn C J Jongmans, Gail E Tomlinson, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHDAlice Garrett, Chey Loveday, Laura King, et al.European Journal of Medical Genetics|October 21, 2022
Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohortLinda A J Hendricks, Nicoline Hoogerbrugge, Hanka Venselaar, et al.Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|August 28, 2024
Update on Pediatric Cancer Surveillance Recommendations for Patients with Neurofibromatosis Type 1, Noonan Syndrome, CBL Syndrome, Costello Syndrome, and Related RASopathiesMelissa R Perrino, Anirban Das, Sarah R Scollon, et al.The Lancet. Gastroenterology & Hepatology|July 9, 2026
Aspirin for cancer prevention in individuals with Lynch syndrome: first results from the CaPP3 multicentre, randomised, double-blind, non-inferiority trialJohn Burn, Gillian M Borthwick, Faye Elliott, et al.Journal of Medical Genetics|February 2, 2018
Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHDKatrina A Andrews, David B Ascher, Douglas Eduardo Valente Pires, et al.Pageof 9