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Volumn 14, Issue 1, 2013, Pages

Multiplex genetic cancer testing identifies pathogenic mutations in TP53 and CDH1 in a patient with bilateral breast and endometrial adenocarcinoma

Author keywords

Cancer susceptibility; CDH1; Multiplex genetic testing; Next generation sequencing; NGS; TP53

Indexed keywords

ADENOCARCINOMA; BREAST NEOPLASMS; CADHERINS; ENDOMETRIAL NEOPLASMS; FEMALE; GENETIC TESTING; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; TUMOR SUPPRESSOR PROTEIN P53;

EID: 84890969390     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-14-129     Document Type: Article
Times cited : (16)

References (20)
  • 1
    • 80052333832 scopus 로고    scopus 로고
    • Genetics, genomics, and cancer risk assessment: state of the art and future directions in the Era of personalized medicine
    • Weitzel JN, Blazer KR, Macdonald DJ, Culver JO, Offit K. Genetics, genomics, and cancer risk assessment: state of the art and future directions in the Era of personalized medicine. CA Cancer J Clin 2011, 61:327-359.
    • (2011) CA Cancer J Clin , vol.61 , pp. 327-359
    • Weitzel, J.N.1    Blazer, K.R.2    Macdonald, D.J.3    Culver, J.O.4    Offit, K.5
  • 2
    • 77956186497 scopus 로고    scopus 로고
    • Effect of genome-wide association studies, direct-to-consumer genetic testing, and high-speed sequencing technologies on predictive genetic counselling for cancer risk
    • 10.1016/S1470-2045(09)70359-6, 20537948
    • Speicher MR, Geigl JB, Tomlinson IP. Effect of genome-wide association studies, direct-to-consumer genetic testing, and high-speed sequencing technologies on predictive genetic counselling for cancer risk. Lancet Oncol 2010, 11:890-898. 10.1016/S1470-2045(09)70359-6, 20537948.
    • (2010) Lancet Oncol , vol.11 , pp. 890-898
    • Speicher, M.R.1    Geigl, J.B.2    Tomlinson, I.P.3
  • 3
    • 84876071726 scopus 로고    scopus 로고
    • Multiplex genetic testing for cancer susceptibility: out on the high wire without a net?
    • 10.1200/JCO.2012.46.9403, 23460708
    • Domchek SM, Bradbury A, Garber JE, Offit K, Robson ME. Multiplex genetic testing for cancer susceptibility: out on the high wire without a net?. J Clin Oncol 2013, 31:1267-1270. 10.1200/JCO.2012.46.9403, 23460708.
    • (2013) J Clin Oncol , vol.31 , pp. 1267-1270
    • Domchek, S.M.1    Bradbury, A.2    Garber, J.E.3    Offit, K.4    Robson, M.E.5
  • 4
    • 84864620195 scopus 로고    scopus 로고
    • Genetic testing by cancer site: breast
    • 10.1097/PPO.0b013e318260946f, 22846731
    • Shannon KM, Chittenden A. Genetic testing by cancer site: breast. Cancer J 2012, 18:310-319. 10.1097/PPO.0b013e318260946f, 22846731.
    • (2012) Cancer J , vol.18 , pp. 310-319
    • Shannon, K.M.1    Chittenden, A.2
  • 6
    • 0142157701 scopus 로고    scopus 로고
    • Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype
    • 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, 63:6643-6650.
    • (2003) Cancer Res , vol.63 , pp. 6643-6650
    • Olivier, M.1    Goldgar, D.E.2    Sodha, N.3    Ohgaki, H.4    Kleihues, P.5    Hainaut, P.6    Eeles, R.A.7
  • 7
    • 0035133356 scopus 로고    scopus 로고
    • Sensitivity and predictive value of criteria for p53 germline mutation screening
    • 10.1136/jmg.38.1.43, 1734716, 11332399
    • 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, 38:43-47. 10.1136/jmg.38.1.43, 1734716, 11332399.
    • (2001) J Med Genet , vol.38 , pp. 43-47
    • Chompret, A.1    Abel, A.2    Stoppa-Lyonnet, D.3    Brugieres, L.4    Pages, S.5    Feunteun, J.6    Bonaiti-Pellie, C.7
  • 9
    • 84875262175 scopus 로고    scopus 로고
    • E-cadherin alterations in hereditary disorders with emphasis on hereditary diffuse gastric cancer
    • Oliveira C, Pinheiro H, Figueiredo J, Seruca R, Carneiro F. E-cadherin alterations in hereditary disorders with emphasis on hereditary diffuse gastric cancer. Prog Mol Biol Transl Sci 2013, 116:337-359.
    • (2013) Prog Mol Biol Transl Sci , vol.116 , pp. 337-359
    • Oliveira, C.1    Pinheiro, H.2    Figueiredo, J.3    Seruca, R.4    Carneiro, F.5
  • 10
    • 77956110372 scopus 로고    scopus 로고
    • International gastric cancer linkage C: hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research
    • 10.1136/jmg.2009.074237, 2991043, 20591882
    • Fitzgerald RC, Hardwick R, Huntsman D, Carneiro F, Guilford P, Blair V, Chung DC, Norton J, Ragunath K, Van Krieken JH, Dwerryhouse S, Caldas C. International gastric cancer linkage C: hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research. J Med Genet 2010, 47:436-444. 10.1136/jmg.2009.074237, 2991043, 20591882.
    • (2010) J Med Genet , vol.47 , pp. 436-444
    • Fitzgerald, R.C.1    Hardwick, R.2    Huntsman, D.3    Carneiro, F.4    Guilford, P.5    Blair, V.6    Chung, D.C.7    Norton, J.8    Ragunath, K.9    Van Krieken, J.H.10    Dwerryhouse, S.11    Caldas, C.12
  • 15
    • 0034738970 scopus 로고    scopus 로고
    • Novel p53 splice site mutations in three families with Li-Fraumeni syndrome
    • 10.1038/sj.onc.1203758, 10980596
    • Verselis SJ, Rheinwald JG, Fraumeni JF, Li FP. Novel p53 splice site mutations in three families with Li-Fraumeni syndrome. Oncogene 2000, 19:4230-4235. 10.1038/sj.onc.1203758, 10980596.
    • (2000) Oncogene , vol.19 , pp. 4230-4235
    • Verselis, S.J.1    Rheinwald, J.G.2    Fraumeni, J.F.3    Li, F.P.4
  • 18
    • 79957474904 scopus 로고    scopus 로고
    • Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study
    • 10.1016/S1470-2045(11)70119-X, 21601526
    • 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, 12:559-567. 10.1016/S1470-2045(11)70119-X, 21601526.
    • (2011) Lancet Oncol , vol.12 , pp. 559-567
    • Villani, A.1    Tabori, U.2    Schiffman, J.3    Shlien, A.4    Beyene, J.5    Druker, H.6    Novokmet, A.7    Finlay, J.8    Malkin, D.9
  • 20
    • 84875502859 scopus 로고    scopus 로고
    • Genome sequencing. Return of unexpected DNA results urged
    • 10.1126/science.339.6127.1507, 23539571
    • Couzin-Frankel J. Genome sequencing. Return of unexpected DNA results urged. Science 2013, 339:1507-1508. 10.1126/science.339.6127.1507, 23539571.
    • (2013) Science , vol.339 , pp. 1507-1508
    • Couzin-Frankel, J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.