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Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk.
Painter JN, O'Mara TA, Batra J, Cheng T, Lose FA, Dennis J, Michailidou K, Tyrer JP, Ahmed S, Ferguson K, Healey CS, Kaufmann S, Hillman KM, Walpole C, Moya L, Pollock P, Jones A, Howarth K, Martin L, Gorman M, Hodgson S; National Study of Endometrial Cancer Genetics Group (NSECG); CHIBCHA Consortium; De Polanco MM, Sans M, Carracedo A, Castellvi-Bel S, Rojas-Martinez A, Santos E, Teixeira MR, Carvajal-Carmona L, Shu XO, Long J, Zheng W, Xiang YB; Australian National Endometrial Cancer Study Group (ANECS); Montgomery GW, Webb PM, Scott RJ, McEvoy M, Attia J, Holliday E, Martin NG, Nyholt DR, Henders AK, Fasching PA, Hein A, Beckmann MW, Renner SP, Dörk T, Hillemanns P, Dürst M, Runnebaum I, Lambrechts D, Coenegrachts L, Schrauwen S, Amant F, Winterhoff B, Dowdy SC, Goode EL, Teoman A, Salvesen HB, Trovik J, Njolstad TS, Werner HM, Ashton K, Proietto T, Otton G, Tzortzatos G, Mints M, Tham E; RENDOCAS; Hall P, Czene K, Liu J, Li J, Hopper JL, Southey MC; Australian Ovarian Cancer Study (AOCS); Ekici AB, Ruebner M, Johnson N, Peto J, Burwinkel B, Marme F, Brenner H, Dieffenbach AK, Meindl A, Brauch H; GENICA Network; Lindblom A, Depreeuw J, Moisse M, Chang-Claude J, Rudolph A… See abstract for full author list ➔ Painter JN, et al. Among authors: tham e. Hum Mol Genet. 2015 Mar 1;24(5):1478-92. doi: 10.1093/hmg/ddu552. Epub 2014 Nov 6. Hum Mol Genet. 2015. PMID: 25378557 Free PMC article.
Exome sequencing in 51 early onset non-familial CRC cases.
Thutkawkorapin J, Lindblom A, Tham E. Thutkawkorapin J, et al. Among authors: tham e. Mol Genet Genomic Med. 2019 May;7(5):e605. doi: 10.1002/mgg3.605. Epub 2019 Feb 27. Mol Genet Genomic Med. 2019. PMID: 30809968 Free PMC article.
The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases.
Figlioli G, Kvist A, Tham E, Soukupova J, Kleiblova P, Muranen TA, Andrieu N, Azzollini J, Balmaña J, Barroso A, Benítez J, Bertelsen B, Blanco A, Bonanni B, Borg Å, Brunet J, Calistri D, Calvello M, Chvojka S, Cortesi L, Darder E, Del Valle J, Diez O; ENIGMA Consortium; Eon-Marchais S, Fostira F; GENESIS Study Collaborators; Gensini F, Houdayer C, Janatova M, Kiiski JI, Konstantopoulou I, Kubelka-Sabit K, Lázaro C, Lesueur F, Manoukian S, Marcinkute R, Mickys U, Moncoutier V; SWE-BRCA Group; Myszka A, Nguyen-Dumont T, Nielsen FC, Norvilas R, Olah E, Osorio A, Papi L, Peissel B, Peixoto A, Plaseska-Karanfilska D, Pócza T, Rossing M, Rudaitis V, Santamariña M, Santos C, Smichkoska S, Southey MC, Stoppa-Lyonnet D, Teixeira M, Törngren T, Toss A, Urioste M, Vega A, Vlckova Z, Yannoukakos D, Zampiga V, Kleibl Z, Radice P, Nevanlinna H, Ehrencrona H, Janavicius R, Peterlongo P. Figlioli G, et al. Among authors: tham e. Cancers (Basel). 2020 Jan 26;12(2):292. doi: 10.3390/cancers12020292. Cancers (Basel). 2020. PMID: 31991861 Free PMC article.
Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes.
Frebourg T, Bajalica Lagercrantz S, Oliveira C, Magenheim R, Evans DG; European Reference Network GENTURIS. Frebourg T, et al. Eur J Hum Genet. 2020 Oct;28(10):1379-1386. doi: 10.1038/s41431-020-0638-4. Epub 2020 May 26. Eur J Hum Genet. 2020. PMID: 32457520 Free PMC article.
Reply to Kratz et al.
Frebourg T, Lagercrantz SB, Oliveira C, Magenheim R, Evans DG; European Reference Network GENTURIS. Frebourg T, et al. Eur J Hum Genet. 2020 Nov;28(11):1483-1485. doi: 10.1038/s41431-020-00710-y. Epub 2020 Aug 13. Eur J Hum Genet. 2020. PMID: 32792624 Free PMC article. No abstract available.
A search for modifying genetic factors in CHEK2:c.1100delC breast cancer patients.
Wendt C, Muranen TA, Mielikäinen L, Thutkawkorapin J, Blomqvist C, Jiao X, Ehrencrona H, Tham E, Arver B, Melin B, Kuchinskaya E, Stenmark Askmalm M, Paulsson-Karlsson Y, Einbeigi Z, von Wachenfeldt Väppling A, Kalso E, Tasmuth T, Kallioniemi A, Aittomäki K, Nevanlinna H, Borg Å, Lindblom A. Wendt C, et al. Among authors: tham e. Sci Rep. 2021 Jul 20;11(1):14763. doi: 10.1038/s41598-021-93926-x. Sci Rep. 2021. PMID: 34285278 Free PMC article.
Whole-Body MRI Surveillance-Baseline Findings in the Swedish Multicentre Hereditary TP53-Related Cancer Syndrome Study (SWEP53).
Omran M, Tham E, Brandberg Y, Ahlström H, Lundgren C, Paulsson-Karlsson Y, Kuchinskaya E, Silander G, Rosén A, Persson F, Leonhardt H, Stenmark-Askmalm M, Berg J, van Westen D, Bajalica-Lagercrantz S, Blomqvist L; the Swedish Clinical TP53 Study Group (SweClinTP53). Omran M, et al. Among authors: tham e. Cancers (Basel). 2022 Jan 13;14(2):380. doi: 10.3390/cancers14020380. Cancers (Basel). 2022. PMID: 35053544 Free PMC article.
342 results