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2013 | 60 | 2 |

Tytuł artykułu

Development of a new, simple and cost-effective diagnostic tool for genetic screening of hereditary colorectal cancer - the DNA microarray assay

Warianty tytułu

Języki publikacji

EN

Abstrakty

EN
 Detection of mutations in families with a hereditary predisposition to colon cancer gives an opportunity to precisely define the high-risk group. 36 patients operated on for colon cancer, with familiar prevalence of this malignancy, were investigated using the DNA microarrays method with the potential detection of 170 mutations in MLH1, MSH2, MSH6, CHEK2, and NOD2 genes. In microarrays analysis of DNA in 9 patients (25% of the investigated group), 6 different mutations were found. The effectiveness of genetic screening using the microarray method is comparable to the effectiveness of other, much more expensive and time-consuming methods.

Wydawca

-

Rocznik

Tom

60

Numer

2

Opis fizyczny

p.195-198,ref.

Twórcy

autor
  • Regional Specialistic Hospital, Slupsk, Department of General, Vascular and Oncologic, Surgery, Slupsk, Poland
  • Department of Oncologic Surgery, Gdansk Medical University, Gdansk, Poland
  • Department of General Surgery, Oncologic Gastroenterologic Surgery and Plastic Surgery, Poznan University of Medical Sciences, Poznan, Poland
autor
  • Medical Genetic Laboratory, DNA Research Center Ltd., Poznan, Poland
autor
  • Medical Genetic Laboratory, DNA Research Center Ltd., Poznan, Poland
  • Department of Rehabilitation, Jozef Pilsudski University of Physical Education in Warsaw, Warsaw, Poland
  • Clinical Department of General and Colorectal Surgery, Bielanski Hospital in Warsaw, Warsaw, Poland
  • Department of General Surgery, Oncologic Gastroenterologic Surgery and Plastic Surgery, Poznan University of Medical Sciences, Poznan, Poland
  • Department of General Surgery, Oncologic Gastroenterologic Surgery and Plastic Surgery, Poznan University of Medical Sciences, Poznan, Poland
autor
  • Department of General Surgery, Oncologic Gastroenterologic Surgery and Plastic Surgery, Poznan University of Medical Sciences, Poznan, Poland
autor
  • Department of General Surgery, Oncologic Gastroenterologic Surgery and Plastic Surgery, Poznan University of Medical Sciences, Poznan, Poland
autor
  • Department of General Surgery, Oncologic Gastroenterologic Surgery and Plastic Surgery, Poznan University of Medical Sciences, Poznan, Poland
autor
  • Medical Genetic Laboratory, DNA Research Center Ltd., Poznan
  • Institute of Rheumatology, Department of Biochemistry and Molecular Biology, Warsaw, Poland
autor
  • Department of Clinical Pathomorphology, Poznan University of Medical Sciences, Poznan, Poland
  • Department of Cancer Immunology, Poznan University of Medical Sciences, Greater Poland Cancer Center, Poznan, Poland
autor
  • Laboratory of Cancer Genetics, Greater Poland Cancer Centre, Poznan, Poland
autor
  • Department of General Surgery, Oncologic Gastroenterologic Surgery and Plastic Surgery, Poznan University of Medical Sciences, Poznan, Poland;
  • Medical Genetic Laboratory, DNA Research Center Ltd., Poznan, Poland

Bibliografia

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  • Brodersen NH, Sutton S, Goff S, Hodgson SV, Thomas HJ (2004) Anticipated reactions to genetic testing for hereditary non-polyposis colorectal cancer susceptibility. Clin Genet 66: 437-444. 
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  • Ladabaum U, Wang G, Terdiman J, Blanco A, Kuppermann M, Boland CR, Ford J, Elkin E, Phillips KA (2011) Strategies to identify the Lynch syndrome among patients with colorectal cancer: a cost-effectiveness analysis. Ann Intern Med 155: 69-79. 
  • Lu KH, Schorge JO, Rodabaugh KJ, Daniels MS, Sun CC, Soliman PT, White KG, Luthra R, Gershenson DM, Broaddus RR (2007) Prospective determination of prevalence of lynch syndrome in young women with endometrial cancer. J Clin Oncol 25: 5158-5164. 
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  • Palomaki GE, McClain MR, Melillo S, Hampel HL, Thibodeau SN (2009) EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome. Genet Med 11: 42-65. 
  • Perez-Cabornero L, Velasco E, Infante M, Sanz D, Lastra E, Hernández L, Miner C, Duran M (2009) A new strategy to screen MMR genes in Lynch Syndrome: HA-CAE, MLPA and RT-PCR. Eur J Cancer 45: 1485-1493. 
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  • Spaepen M, Vankeirsbilck B, Van Opstal S, Tejpar S, Van Cutsem E, Geboes K, Legius E, Matthijs G (2006) Germline mutations of the hMLH1 and hMSH2 mismatch repair genes in Belgian hereditary nonpolyposis colon cancer (HNPCC) patients. Fam Cancer 5: 179-89. 
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  • Vasen HF, Mecklin JP, Khan PM, Lynch HT (1991) The international collaborative group on hereditary non-polyposis colorectal cancer (ICG-HNPCC). Dis Colon Rectum 34: 424-425. 
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  • Wang VW, Koh PK, Chow WL, Lim JF (2012) Predictive genetic testing of first degree relatives of mutation carriers is a cost-effective strategy in preventing hereditary non-polyposis colorectal cancer in Singapore. Fam Cancer 11: 279-289. 
  • Watson P, Narod SA, Fodde R, Wagner A, Lynch JF, Tinley ST, Snyder CL, Coronel SA, Riley B, Kinarsky Y, Lynch HT (2003) Carrier risk status changes resulting from mutation testing in hereditary nonpolyposis colorectal cancer and hereditary breast-ovarian cancer. J Med Genet 40: 591-596. 
  • Wijnen JT, Vasen HF, Khan PM, Zwinderman AH, van der Klift H, Mulder A, Tops C, Møller P, Fodde R (1998) Clinical findings with implications for genetic testing in families with clustering of colorectal cancer. N Engl J Med 339: 511-518.

Typ dokumentu

Bibliografia

Identyfikatory

Identyfikator YADDA

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