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The Frequency of CHEK2 variant p.Ile157Thr in Men with Prostate Cancer: Towards Expanded Genetic Testing
Author(s) -
Agubokwu Nnedi G.,
Giri Veda N.
Publication year - 2018
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fasebj.2018.32.1_supplement.532.9
Subject(s) - chek2 , prostate cancer , genetic testing , cancer , genotype , prostate , medicine , oncology , mutation , genetics , biology , gene , germline mutation
Prostate Cancer (PCA) is the most commonly diagnosed cancer in men in the United States; approximately 5% to 10% of PCAs are considered to be due to inherited mutations (pathogenic variants) that substantially raise the risk for the disease. In genetic testing, variants are classified on a spectrum from mutation, variant of uncertain significance (VUS) and benign. The Checkpoint Kinase 2 gene ( CHEK2 ) variant p. Ile157Thr has had mixed classifications from various laboratories, with some laboratories classifying the variant as a VUS, while others classifying it as a mutation. The purpose of this project was to evaluate the rate of CHEK2 p. Ile157Thr in men affected with PCA. A further objective was to compare rates of the variant to men without a diagnosis of PCA. Primers for the variant were designed by Primer3Plus and obtained from Integrated DNA Technologies. To obtain the DNA samples, DNA extraction from mouthwash samples was performed, followed by quantification and a quality assessment of the DNA using the NanoDrop 2000. The samples were genotyped with the StepOnePlus Real‐Time PCR System. Finally, a 2% confirmation test was conducted to verify the genotypes that were obtained. According to the study, 1.4% of the men with PCA exhibited the CHEK2 variant p.Ile157Thr, particularly those with family histories of breast or colon cancers. The results supported the hypothesis that the rate of CHEK2 variant p.Ile157Thr would be higher among men affected by PCA. This study explores the role of CHEK2 variant p.Ile157Thr in prostate cancer risk, and may lead to expanded genetic testing for inherited PCAs. Support or Funding Information Department of Defense, Prostate Cancer Research Program This abstract is from the Experimental Biology 2018 Meeting. There is no full text article associated with this abstract published in The FASEB Journal .