Gonzalez KD, Noltner KA, Buzin CH, Gu D, Wen-Fong CY, Nguyen VQ, Han JH, Lowstuter K, Longmate J, Sommer SS, et al: Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations. J Clin Oncol. 2009, 27 (8): 1250-1256. 10.1200/JCO.2008.16.6959.
Article
CAS
PubMed
Google Scholar
Nagy R, Sweet K, Eng C: Highly penetrant hereditary cancer syndromes. Oncogene. 2004, 23 (38): 6445-6470. 10.1038/sj.onc.1207714.
Article
CAS
PubMed
Google Scholar
Li FP, Fraumeni JF: Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome?. Ann Intern Med. 1969, 71 (4): 747-752.
Article
CAS
PubMed
Google Scholar
Li FP, Fraumeni JF, Mulvihill JJ, Blattner WA, Dreyfus MG, Tucker MA, Miller RW: A cancer family syndrome in twenty-four kindreds. Cancer Res. 1988, 48 (18): 5358-5362.
CAS
PubMed
Google Scholar
Hwang SJ, Lozano G, Amos CI, Strong LC: Germline p53 mutations in a cohort with childhood sarcoma: sex differences in cancer risk. Am J Hum Genet. 2003, 72 (4): 975-983. 10.1086/374567.
Article
CAS
PubMed
PubMed Central
Google Scholar
Wu CC, Shete S, Amos CI, Strong LC: Joint effects of germ-line p53 mutation and sex on cancer risk in Li-Fraumeni syndrome. Cancer Res. 2006, 66 (16): 8287-8292. 10.1158/0008-5472.CAN-05-4247.
Article
CAS
PubMed
Google Scholar
Birch JM, Hartley AL, Tricker KJ, Prosser J, Condie A, Kelsey AM, Harris M, Jones PH, Binchy A, Crowther D, et al: Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. Cancer Res. 1994, 54 (5): 1298-1304.
CAS
PubMed
Google Scholar
Eeles RA: Germline mutations in the TP53 gene. Cancer Surv. 1995, 25: 101-124.
CAS
PubMed
Google Scholar
Chompret A, Brugieres L, Ronsin M, Gardes M, Dessarps-Freichey F, Abel A, Hua D, Ligot L, Dondon MG, Bressac-de Paillerets B, et al: P53 germline mutations in childhood cancers and cancer risk for carrier individuals. Br J Cancer. 2000, 82 (12): 1932-1937.
Article
CAS
PubMed
PubMed Central
Google Scholar
Chompret A, Abel A, Stoppa-Lyonnet D, Brugieres L, Pages S, Feunteun J, Bonaiti-Pellie C: Sensitivity and predictive value of criteria for p53 germline mutation screening. J Med Genet. 2001, 38 (1): 43-47. 10.1136/jmg.38.1.43.
Article
CAS
PubMed
PubMed Central
Google Scholar
Tinat J, Bougeard G, Baert-Desurmont S, Vasseur S, Martin C, Bouvignies E, Caron O, Bressac-de Paillerets B, Berthet P, Dugast C, et al: 2009 version of the Chompret criteria for Li Fraumeni syndrome. J Clin Oncol. 2009, 27 (26): e108-e109. 10.1200/JCO.2009.22.7967. author reply e110
Article
PubMed
Google Scholar
Varley JM: Germline TP53 mutations and Li-Fraumeni syndrome. Hum Mutat. 2003, 21 (3): 313-320. 10.1002/humu.10185.
Article
CAS
PubMed
Google Scholar
Olivier M, Goldgar DE, Sodha N, Ohgaki H, Kleihues P, Hainaut P, Eeles RA: Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype. Cancer Res. 2003, 63 (20): 6643-6650.
CAS
PubMed
Google Scholar
Bougeard G, Sesboue R, Baert-Desurmont S, Vasseur S, Martin C, Tinat J, Brugieres L, Chompret A, de Paillerets BB, Stoppa-Lyonnet D, et al: Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families. J Med Genet. 2008, 45 (8): 535-538. 10.1136/jmg.2008.057570.
Article
CAS
PubMed
Google Scholar
Malkin D, Li FP, Strong LC, Fraumeni JF, Nelson CE, Kim DH, Kassel J, Gryka MA, Bischoff FZ, Tainsky MA, et al: Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science. 1990, 250 (4985): 1233-1238. 10.1126/science.1978757.
Article
CAS
PubMed
Google Scholar
Lacroix M, Toillon RA, Leclercq G: p53 and breast cancer, an update. Endocr Relat Cancer. 2006, 13 (2): 293-325. 10.1677/erc.1.01172.
Article
CAS
PubMed
Google Scholar
Hisada M, Garber JE, Fung CY, Fraumeni JF, Li FP: Multiple primary cancers in families with Li-Fraumeni syndrome. J Natl Cancer Inst. 1998, 90 (8): 606-611. 10.1093/jnci/90.8.606.
Article
CAS
PubMed
Google Scholar
Melhem-Bertrandt A, Bojadzieva J, Ready KJ, Obeid E, Liu DD, Gutierrez-Barrera AM, Litton JK, Olopade OI, Hortobagyi GN, Strong LC, et al: Early onset HER2-positive breast cancer is associated with germline TP53 mutations. Cancer. 2012, 118 (4): 908-913. 10.1002/cncr.26377.
Article
CAS
PubMed
Google Scholar
Varley JM, McGown G, Thorncroft M, Santibanez-Koref MF, Kelsey AM, Tricker KJ, Evans DG, Birch JM: Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families. Cancer Res. 1997, 57 (15): 3245-3252.
CAS
PubMed
Google Scholar
Gonzalez KD, Buzin CH, Noltner KA, Gu D, Li W, Malkin D, Sommer SS: High frequency of de novo mutations in Li-Fraumeni syndrome. J Med Genet. 2009, 46 (10): 689-693. 10.1136/jmg.2008.058958.
Article
CAS
PubMed
Google Scholar
Lowe SW, Bodis S, McClatchey A, Remington L, Ruley HE, Fisher DE, Housman DE, Jacks T: p53 status and the efficacy of cancer therapy in vivo. Science. 1994, 266 (5186): 807-810. 10.1126/science.7973635.
Article
CAS
PubMed
Google Scholar
Hamada M, Fujiwara T, Hizuta A, Gochi A, Naomoto Y, Takakura N, Takahashi K, Roth JA, Tanaka N, Orita K: The p53 gene is a potent determinant of chemosensitivity and radiosensitivity in gastric and colorectal cancers. J Cancer Res Clin Oncol. 1996, 122 (6): 360-365. 10.1007/BF01220804.
Article
CAS
PubMed
Google Scholar
Preudhomme C, Fenaux P: The clinical significance of mutations of the P53 tumour suppressor gene in haematological malignancies. Br J Haematol. 1997, 98 (3): 502-511. 10.1046/j.1365-2141.1997.2403057.x.
Article
CAS
PubMed
Google Scholar
Shelling AN: Role of p53 in drug resistance in ovarian cancer. Lancet. 1997, 349 (9054): 744-745. 10.1016/S0140-6736(05)60195-X.
Article
CAS
PubMed
Google Scholar
Olivier M, Langerod A, Carrieri P, Bergh J, Klaar S, Eyfjord J, Theillet C, Rodriguez C, Lidereau R, Bieche I, et al: The clinical value of somatic TP53 gene mutations in 1,794 patients with breast cancer. Clin Cancer Res. 2006, 12 (4): 1157-1167. 10.1158/1078-0432.CCR-05-1029.
Article
CAS
PubMed
Google Scholar
Aas T, Borresen AL, Geisler S, Smith-Sorensen B, Johnsen H, Varhaug JE, Akslen LA, Lonning PE: Specific P53 mutations are associated with de novo resistance to doxorubicin in breast cancer patients. Nat Med. 1996, 2 (7): 811-814. 10.1038/nm0796-811.
Article
CAS
PubMed
Google Scholar
Cimoli G, Malacarne D, Ponassi R, Valenti M, Alberti S, Parodi S: Meta-analysis of the role of p53 status in isogenic systems tested for sensitivity to cytotoxic antineoplastic drugs. Biochim Biophys Acta. 2004, 1705 (2): 103-120.
CAS
PubMed
Google Scholar
Geisler S, Borresen-Dale AL, Johnsen H, Aas T, Geisler J, Akslen LA, Anker G, Lonning PE: TP53 gene mutations predict the response to neoadjuvant treatment with 5-fluorouracil and mitomycin in locally advanced breast cancer. Clin Cancer Res. 2003, 9 (15): 5582-5588.
CAS
PubMed
Google Scholar
Geisler S, Lonning PE, Aas T, Johnsen H, Fluge O, Haugen DF, Lillehaug JR, Akslen LA, Borresen-Dale AL: Influence of TP53 gene alterations and c-erbB-2 expression on the response to treatment with doxorubicin in locally advanced breast cancer. Cancer Res. 2001, 61 (6): 2505-2512.
CAS
PubMed
Google Scholar
Kandioler-Eckersberger D, Ludwig C, Rudas M, Kappel S, Janschek E, Wenzel C, Schlagbauer-Wadl H, Mittlbock M, Gnant M, Steger G, et al: TP53 mutation and p53 overexpression for prediction of response to neoadjuvant treatment in breast cancer patients. Clin Cancer Res. 2000, 6 (1): 50-56.
CAS
PubMed
Google Scholar
Lanni JS, Lowe SW, Licitra EJ, Liu JO, Jacks T: p53-independent apoptosis induced by paclitaxel through an indirect mechanism. Proc Natl Acad Sci U S A. 1997, 94 (18): 9679-9683. 10.1073/pnas.94.18.9679.
Article
CAS
PubMed
PubMed Central
Google Scholar
Lu C, El-Deiry WS: Targeting p53 for enhanced radio- and chemo-sensitivity. Apoptosis. 2009, 14 (4): 597-606. 10.1007/s10495-009-0330-1.
Article
CAS
PubMed
Google Scholar
Peng Z: Current status of gendicine in China: recombinant human Ad-p53 agent for treatment of cancers. Hum Gene Ther. 2005, 16 (9): 1016-1027. 10.1089/hum.2005.16.1016.
Article
CAS
PubMed
Google Scholar
Pan JJ, Zhang SW, Chen CB, Xiao SW, Sun Y, Liu CQ, Su X, Li DM, Xu G, Xu B, et al: Effect of recombinant adenovirus-p53 combined with radiotherapy on long-term prognosis of advanced nasopharyngeal carcinoma. J Clin Oncol. 2009, 27 (5): 799-804. 10.1200/JCO.2008.18.9670.
Article
PubMed
Google Scholar
Agir H, MacKinnon C, Tan ST: Li-Fraumeni syndrome: a case with 4 separate primary sarcomas and 5 sequential free flaps in the maxillofacial region. J Oral Maxillofac Surg. 2008, 66 (8): 1714-1719. 10.1016/j.joms.2007.09.015.
Article
PubMed
Google Scholar
Limacher JM, Frebourg T, Natarajan-Ame S, Bergerat JP: Two metachronous tumors in the radiotherapy fields of a patient with Li-Fraumeni syndrome. Int J Cancer. 2001, 96 (4): 238-242. 10.1002/ijc.1021.
Article
CAS
PubMed
Google Scholar
Salmon A, Amikam D, Sodha N, Davidson S, Basel-Vanagaite L, Eeles RA, Abeliovich D, Peretz T: Rapid development of post-radiotherapy sarcoma and breast cancer in a patient with a novel germline ‘de-novo’ TP53 mutation. Clin Oncol (R Coll Radiol). 2007, 19 (7): 490-493. 10.1016/j.clon.2007.05.001.
Article
CAS
Google Scholar
Nutting C, Camplejohn RS, Gilchrist R, Tait D, Blake P, Knee G, Yao WQ, Ross G, Fisher C, Eeles R: A patient with 17 primary tumours and a germ line mutation in TP53: tumour induction by adjuvant therapy?. Clin Oncol (R Coll Radiol). 2000, 12 (5): 300-304.
CAS
Google Scholar
Heymann S, Delaloge S, Rahal A, Caron O, Frebourg T, Barreau L, Pachet C, Mathieu MC, Marsiglia H, Bourgier C: Radio-induced malignancies after breast cancer postoperative radiotherapy in patients with Li-Fraumeni syndrome. Radiat Oncol. 2010, 5: 104-10.1186/1748-717X-5-104.
Article
PubMed
PubMed Central
Google Scholar
Cuddihy AR, Bristow RG: The p53 protein family and radiation sensitivity: Yes or no?. Cancer Metastasis Rev. 2004, 23 (3–4): 237-257.
Article
CAS
PubMed
Google Scholar
Kemp CJ, Wheldon T, Balmain A: p53-deficient mice are extremely susceptible to radiation-induced tumorigenesis. Nat Genet. 1994, 8 (1): 66-69. 10.1038/ng0994-66.
Article
CAS
PubMed
Google Scholar
Kato F, Ootsuyama A, Nomoto S, Kondo S, Norimura T: Threshold effect for teratogenic risk of radiation depends on dose-rate and p53-dependent apoptosis. Int J Radiat Biol. 2001, 77 (1): 13-19. 10.1080/09553000010001899.
Article
CAS
PubMed
Google Scholar
Baatout S, Jacquet P, Michaux A, Buset J, Vankerkom J, Derradji H, Yan J, von Suchodoletz H, de Saint-Georges L, Desaintes C, et al: Developmental abnormalities induced by X-irradiation in p53 deficient mice. In Vivo. 2002, 16 (3): 215-221.
CAS
PubMed
Google Scholar
Boyle JM, Spreadborough A, Greaves MJ, Birch JM, Varley JM, Scott D: The relationship between radiation-induced G(1)arrest and chromosome aberrations in Li-Fraumeni fibroblasts with or without germline TP53 mutations. Br J Cancer. 2001, 85 (2): 293-296. 10.1054/bjoc.2001.1896.
Article
CAS
PubMed
PubMed Central
Google Scholar
Boyle JM, Spreadborough AR, Greaves MJ, Birch JM, Varley JM, Scott D: Delayed chromosome changes in gamma-irradiated normal and Li-Fraumeni fibroblasts. Radiat Res. 2002, 157 (2): 158-165. 10.1667/0033-7587(2002)157[0158:DCCIGI]2.0.CO;2.
Article
CAS
PubMed
Google Scholar
Backlund MG, Trasti SL, Backlund DC, Cressman VL, Godfrey V, Koller BH: Impact of ionizing radiation and genetic background on mammary tumorigenesis in p53-deficient mice. Cancer Res. 2001, 61 (17): 6577-6582.
CAS
PubMed
Google Scholar
Evans DG, Birch JM, Ramsden RT, Sharif S, Baser ME: Malignant transformation and new primary tumours after therapeutic radiation for benign disease: substantial risks in certain tumour prone syndromes. J Med Genet. 2006, 43 (4): 289-294.
Article
CAS
PubMed
Google Scholar
Moule RN, Jhavar SG, Eeles RA: Genotype phenotype correlation in Li-Fraumeni syndrome kindreds and its implications for management. Fam Cancer. 2006, 5 (2): 129-133. 10.1007/s10689-005-4522-8.
Article
CAS
PubMed
Google Scholar
Villani A, Tabori U, Schiffman J, Shlien A, Beyene J, Druker H, Novokmet A, Finlay J, Malkin D: Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study. Lancet Oncol. 2011, 12 (6): 559-567. 10.1016/S1470-2045(11)70119-X.
Article
CAS
PubMed
Google Scholar
Ginsburg OM, Akbari MR, Aziz Z, Young R, Lynch H, Ghadirian P, Robidoux A, Londono J, Vasquez G, Gomes M, et al: The prevalence of germ-line TP53 mutations in women diagnosed with breast cancer before age 30. Fam Cancer. 2009, 8 (4): 563-567. 10.1007/s10689-009-9287-z.
Article
CAS
PubMed
Google Scholar
Arcand SL, Maugard CM, Ghadirian P, Robidoux A, Perret C, Zhang P, Fafard E, Mes-Masson AM, Foulkes WD, Provencher D, et al: Germline TP53 mutations in BRCA1 and BRCA2 mutation-negative French Canadian breast cancer families. Breast Cancer Res Treat. 2008, 108 (3): 399-408. 10.1007/s10549-007-9608-6.
Article
CAS
PubMed
Google Scholar
Borresen AL, Andersen TI, Garber J, Barbier-Piraux N, Thorlacius S, Eyfjord J, Ottestad L, Smith-Sorensen B, Hovig E, Malkin D, et al: Screening for germ line TP53 mutations in breast cancer patients. Cancer Res. 1992, 52 (11): 3234-3236.
CAS
PubMed
Google Scholar
Lalloo F, Varley J, Ellis D, Moran A, O’Dair L, Pharoah P, Evans DG: Prediction of pathogenic mutations in patients with early-onset breast cancer by family history. Lancet. 2003, 361 (9363): 1101-1102. 10.1016/S0140-6736(03)12856-5.
Article
CAS
PubMed
Google Scholar
Lalloo F, Varley J, Moran A, Ellis D, O’Dair L, Pharoah P, Antoniou A, Hartley R, Shenton A, Seal S, et al: BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives. Eur J Cancer. 2006, 42 (8): 1143-1150. 10.1016/j.ejca.2005.11.032.
Article
CAS
PubMed
Google Scholar
Mouchawar J, Korch C, Byers T, Pitts TM, Li E, McCredie MR, Giles GG, Hopper JL, Southey MC: Population-based estimate of the contribution of TP53 mutations to subgroups of early-onset breast cancer: Australian Breast Cancer Family Study. Cancer Res. 2010, 70 (12): 4795-4800. 10.1158/0008-5472.CAN-09-0851.
Article
CAS
PubMed
PubMed Central
Google Scholar
Prosser J, Elder PA, Condie A, MacFadyen I, Steel CM, Evans HJ: Mutations in p53 do not account for heritable breast cancer: a study in five affected families. Br J Cancer. 1991, 63 (2): 181-184. 10.1038/bjc.1991.44.
Article
CAS
PubMed
PubMed Central
Google Scholar
Walsh T, Casadei S, Coats KH, Swisher E, Stray SM, Higgins J, Roach KC, Mandell J, Lee MK, Ciernikova S, et al: Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA. 2006, 295 (12): 1379-1388. 10.1001/jama.295.12.1379.
Article
CAS
PubMed
Google Scholar