| 1 | LFS1, TP53
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| Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families.
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| Bougeard G, Sesboüé R, Baert-Desurmont S, Vasseur S, Martin C, Tinat J, Brugières L, Chompret A, de Paillerets BB, Stoppa-Lyonnet D, Bonaïti-Pellié C, Frébourg T; French LFS working group.
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| J Med Genet 45(8):535-8. Epub 2008 May 29.
2008
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| 2 | TP53, CHEK2, LFS1, LFS2
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| p53, CHK2, and CHK1 genes in Finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition.
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| Vahteristo P, Tamminen A, Karvinen P, Eerola H, Eklund C, Aaltonen LA, Blomqvist C, Aittomaki K, Nevanlinna H.
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| Cancer Res 61(15):5718-22. 2001
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| 3 | BCL10, LFS1, LFS2
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| Analysis of Li-Fraumeni syndrome and Li-Fraumeni-like families for germline mutations in Bcl10.
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| Stone JG, Eeles RA, Sodha N, Murday V, Sheriden E, Houlston RS.
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| Cancer Lett 147(1-2):181-5. 1999
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| 4 | LFS1, TP53, TSG17A
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| An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53.
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| Varley JM, et al.
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| J Med Genet 32 : 942-945. 1995
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| 5 | LFS1, TP53
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| Splice-site mutation of the p53 gene in a family with hereditary breast-ovarian cancer.
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| Jolly KW, et al.
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| Oncogene 9 : 97-102. 1994
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| 6 | LFS1, TP53
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| Single base pair germ-line deletion in the p53 gene in a cancer predisposed family.
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| Hamelin R, et al.
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| Hum Genet 94 : 88-90. 1994
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| 7 | TP53, LFS1
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| A germline 2.35 kb deletion of p53 genomic DNA creating a specific loss of the oligomerization domain inherited in a Li-Fraumeni syndrome family.
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| Plummer SJ, et al.
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| Oncogene 9 : 3273-3280. 1994
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| 8 | TP53, LFS1
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| A functionally inactive p53 Li-Fraumeni syndrome mutant.
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| Hao M, et al.
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| Oncogene 8 : 299-306. 1993
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| 9 | TSG17A, TP53, LFS1
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| Detection of both mutant and wild-type p53 protein in normal skin fibroblasts and demonstration of a shared second hit on p53 in diverse tumors from a cancer-prone family with Li-Fraumeni syndrome.
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| Srivastava S, et al.
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| Oncogene 7 : 987-991. 1992
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| 10 | LFS1, TP53
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| Abnormal expression of wild type p53 protein in normal cells of a cancer family patient.
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| Barnes DM, et al.
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| Lancet 340 : 259-263. 1992
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| 11 | LFS1
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| Loss of heterozygosity on the short arm of chromosome 17 is associated with high proliferative capacity and DNA aneuploidy in primary human breast cancer.
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| Chen LC, et al.
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| Proc Natl Acad Sci U S A 88 : 3847-3851. 1991
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| 12 | TP53, LFS1
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| A germ line mutation in exon 5 of the p53 gene in an extended cancer family.
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| Law JC, et al.
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| Cancer Res 51 : 6385-6387. 1991
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| 13 | LFS1, TP53
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| p53 germline mutations in Li-Fraumeni syndrome.
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| Santibanez-Koref MF, et al.
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| Lancet 338 : 1490-1491. 1991
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| 14 | LFS1, TP53, TSG17A
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| Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms.
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| Malkin D, et al.
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| Science 250 : 1233-1238. 1990
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| 15 | LFS1, TP53, TSG17A
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| Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome.
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| Srivastava S, et al.
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| Nature 348 : 747-749. 1990
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