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Multiple rare variants in high-risk pancreatic cancer-related genes may increase risk for pancreatic cancer in a subset of patients with and without germline CDKN2A mutations.
Yang XR, Rotunno M, Xiao Y, Ingvar C, Helgadottir H, Pastorino L, van Doorn R, Bennett H, Graham C, Sampson JN, Malasky M, Vogt A, Zhu B, Bianchi-Scarra G, Bruno W, Queirolo P, Fornarini G, Hansson J, Tuominen R, Burdett L, Hicks B, Hutchinson A, Jones K, Yeager M, Chanock SJ, Landi MT, Höiom V, Olsson H, Gruis N, Ghiorzo P, Tucker MA, Goldstein AM. Yang XR, et al. Among authors: gruis n. Hum Genet. 2016 Nov;135(11):1241-1249. doi: 10.1007/s00439-016-1715-1. Epub 2016 Jul 23. Hum Genet. 2016. PMID: 27449771 Free PMC article.
Germline mutations of the CDKN2 gene in UK melanoma families.
Harland M, Meloni R, Gruis N, Pinney E, Brookes S, Spurr NK, Frischauf AM, Bataille V, Peters G, Cuzick J, Selby P, Bishop DT, Bishop JN. Harland M, et al. Among authors: gruis n. Hum Mol Genet. 1997 Nov;6(12):2061-7. doi: 10.1093/hmg/6.12.2061. Hum Mol Genet. 1997. PMID: 9328469
Haplotype analysis of two recurrent CDKN2A mutations in 10 melanoma families: evidence for common founders and independent mutations.
Pollock PM, Spurr N, Bishop T, Newton-Bishop J, Gruis N, van der Velden PA, Goldstein AM, Tucker MA, Foulkes WD, Barnhill R, Haber D, Fountain J, Hayward NK. Pollock PM, et al. Among authors: gruis n. Hum Mutat. 1998;11(6):424-31. doi: 10.1002/(SICI)1098-1004(1998)11:6<424::AID-HUMU2>3.0.CO;2-2. Hum Mutat. 1998. PMID: 9603434
The melanocortin-1-receptor gene is the major freckle gene.
Bastiaens M, ter Huurne J, Gruis N, Bergman W, Westendorp R, Vermeer BJ, Bouwes Bavinck JN. Bastiaens M, et al. Among authors: gruis n. Hum Mol Genet. 2001 Aug 1;10(16):1701-8. doi: 10.1093/hmg/10.16.1701. Hum Mol Genet. 2001. PMID: 11487574
Geographical variation in the penetrance of CDKN2A mutations for melanoma.
Bishop DT, Demenais F, Goldstein AM, Bergman W, Bishop JN, Bressac-de Paillerets B, Chompret A, Ghiorzo P, Gruis N, Hansson J, Harland M, Hayward N, Holland EA, Mann GJ, Mantelli M, Nancarrow D, Platz A, Tucker MA; Melanoma Genetics Consortium. Bishop DT, et al. Among authors: gruis n. J Natl Cancer Inst. 2002 Jun 19;94(12):894-903. doi: 10.1093/jnci/94.12.894. J Natl Cancer Inst. 2002. PMID: 12072543
161 results