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Page 1
Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families.
Yang X, Leslie G, Doroszuk A, Schneider S, Allen J, Decker B, Dunning AM, Redman J, Scarth J, Plaskocinska I, Luccarini C, Shah M, Pooley K, Dorling L, Lee A, Adank MA, Adlard J, Aittomäki K, Andrulis IL, Ang P, Barwell J, Bernstein JL, Bobolis K, Borg Å, Blomqvist C, Claes KBM, Concannon P, Cuggia A, Culver JO, Damiola F, de Pauw A, Diez O, Dolinsky JS, Domchek SM, Engel C, Evans DG, Fostira F, Garber J, Golmard L, Goode EL, Gruber SB, Hahnen E, Hake C, Heikkinen T, Hurley JE, Janavicius R, Kleibl Z, Kleiblova P, Konstantopoulou I, Kvist A, Laduca H, Lee ASG, Lesueur F, Maher ER, Mannermaa A, Manoukian S, McFarland R, McKinnon W, Meindl A, Metcalfe K, Mohd Taib NA, Moilanen J, Nathanson KL, Neuhausen S, Ng PS, Nguyen-Dumont T, Nielsen SM, Obermair F, Offit K, Olopade OI, Ottini L, Penkert J, Pylkäs K, Radice P, Ramus SJ, Rudaitis V, Side L, Silva-Smith R, Silvestri V, Skytte AB, Slavin T, Soukupova J, Tondini C, Trainer AH, Unzeitig G, Usha L, van Overeem Hansen T, Whitworth J, Wood M, Yip CH, Yoon SY, Yussuf A, Zogopoulos G, Goldgar D, Hopper JL, Chenevix-Trench G, Pharoah P, George SHL, Balmaña J, Houdayer C, James P, El-Haffaf Z, Ehrencrona H, Janatova M, Peterlongo P, … See abstract for full author list ➔ Yang X, et al. Among authors: whitworth j. J Clin Oncol. 2020 Mar 1;38(7):674-685. doi: 10.1200/JCO.19.01907. Epub 2019 Dec 16. J Clin Oncol. 2020. PMID: 31841383 Free PMC article.
Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review.
Whitworth J, Skytte AB, Sunde L, Lim DH, Arends MJ, Happerfield L, Frayling IM, van Minkelen R, Woodward ER, Tischkowitz MD, Maher ER. Whitworth J, et al. JAMA Oncol. 2016 Mar;2(3):373-9. doi: 10.1001/jamaoncol.2015.4771. JAMA Oncol. 2016. PMID: 26659639 Review.
Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review.
Casey RT, Warren AY, Martin JE, Challis BG, Rattenberry E, Whitworth J, Andrews KA, Roberts T, Clark GR, West H, Smith PS, Docquier FM, Rodger F, Murray V, Simpson HL, Wallis Y, Giger O, Tran M, Tomkins S, Stewart GD, Park SM, Woodward ER, Maher ER. Casey RT, et al. Among authors: whitworth j. J Clin Endocrinol Metab. 2017 Nov 1;102(11):4013-4022. doi: 10.1210/jc.2017-00562. J Clin Endocrinol Metab. 2017. PMID: 28973655 Free PMC article. Review.
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
Whitworth J, Smith PS, Martin JE, West H, Luchetti A, Rodger F, Clark G, Carss K, Stephens J, Stirrups K, Penkett C, Mapeta R, Ashford S, Megy K, Shakeel H, Ahmed M, Adlard J, Barwell J, Brewer C, Casey RT, Armstrong R, Cole T, Evans DG, Fostira F, Greenhalgh L, Hanson H, Henderson A, Hoffman J, Izatt L, Kumar A, Kwong A, Lalloo F, Ong KR, Paterson J, Park SM, Chen-Shtoyerman R, Searle C, Side L, Skytte AB, Snape K, Woodward ER; NIHR BioResource Rare Diseases Consortium; Tischkowitz MD, Maher ER. Whitworth J, et al. Am J Hum Genet. 2018 Jul 5;103(1):3-18. doi: 10.1016/j.ajhg.2018.04.013. Epub 2018 Jun 14. Am J Hum Genet. 2018. PMID: 29909963 Free PMC article.
SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice.
Casey RT, Ten Hoopen R, Ochoa E, Challis BG, Whitworth J, Smith PS, Martin JE, Clark GR, Rodger F, Maranian M, Allinson K, Madhu B, Roberts T, Campos L, Anstee J, Park SM, Marker A, Watts C, Bulusu VR, Giger OT, Maher ER. Casey RT, et al. Among authors: whitworth j. Sci Rep. 2019 Jul 15;9(1):10244. doi: 10.1038/s41598-019-46124-9. Sci Rep. 2019. PMID: 31308404 Free PMC article.
Characterization of renal cell carcinoma-associated constitutional chromosome abnormalities by genome sequencing.
Smith PS, Whitworth J, West H, Cook J, Gardiner C, Lim DHK, Morrison PJ, Hislop RG, Murray E; NIHR Rare Disease BioResource; Tischkowitz M, Warren AY, Woodward ER, Maher ER. Smith PS, et al. Among authors: whitworth j. Genes Chromosomes Cancer. 2020 Jun;59(6):333-347. doi: 10.1002/gcc.22833. Epub 2020 Feb 5. Genes Chromosomes Cancer. 2020. PMID: 31943436 Free PMC article. Review.
916 results