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Purpose

Comparison of variant frequencies in the general population has become an essential part of the American College of Medical Genetics and Genomics (ACMG) standards and guidelines for interpreting sequence variants. We determined the optimal number of relevant ethnic controls that should be used to accurately calculate the odds ratio (OR) of genetic variants.

Materials and Methods

Using the ACMG guidelines, we reclassified BRCA1 and BRCA2 mutations and variants of unknown significance in 745 Korean patients susceptible to hereditary breast and ovarian cancer compared with 1,314 Korean population controls.

Results

We observed that the ORs were falsely inflated when we analyzed several variants using non-Korean population data. Our simulation indicated that the number of controls needed for the lower limit of a 95% confidence interval to exceed 1.0 varied according to the frequency of the variant in each patient group, with more than 820 controls needed for a variant existing in 1% of cases. Using a sufficient number of relevant population data, we could efficiently classify variants and identified the BRCA1 p.Leu1780Pro mutation as a possible pathogenic founder mutation in Korean patients.

Conclusion

Our study suggests that BRCA1 p.Leu1780Pro is a novel pathogenic mutation found in Korean patients. We also determined the optimal number of relevant ethnic controls needed for accurate variant classification according to the ACMG guidelines.

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참고문헌 (27건) : 자료제공( 네이버학술정보 )

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번호 참고문헌 국회도서관 소장유무
1 Shiovitz S, Korde LA. Genetics of breast cancer: a topic in evolution. Ann Oncol. 2015;26:1291-9. 미소장
2 Mersch J, Jackson MA, Park M, Nebgen D, Peterson SK, Singletary C, et al. Cancers associated with BRCA1 and BRCA2mutations other than breast and ovarian. Cancer. 2015;121:269-75. 미소장
3 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;31:1267-70. 미소장
4 Easton DF, Deffenbaugh AM, Pruss D, Frye C, Wenstrup RJ, Allen-Brady K, et al. A systematic genetic assessment of 1,433sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. Am J Hum Genet. 2007;81:873-83. 미소장
5 Frank TS, Deffenbaugh AM, Reid JE, Hulick M, Ward BE, Lingenfelter B, et al. Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000individuals. J Clin Oncol. 2002;20:1480-90. 미소장
6 Lindor NM, Goldgar DE, Tavtigian SV, Plon SE, Couch FJ. BRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management. Oncologist. 2013;18:518-24. 미소장
7 Ready K, Gutierrez-Barrera AM, Amos C, Meric-Bernstam F, Lu K, Hortobagyi G, et al. Cancer risk management decisions of women with BRCA1 or BRCA2 variants of uncertain significance. Breast J. 2011;17:210-2. 미소장
8 Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405-24. 미소장
9 Amendola LM, Jarvik GP, Leo MC, McLaughlin HM, Akkari Y, Amaral MD, et al. Performance of ACMG-AMP variantinterpretation guidelines among nine laboratories in the clinical sequencing exploratory research consortium. Am J Hum Genet. 2016;98:1067-76. 미소장
10 Jang MA, Lee SH, Kim N, Ki CS. Frequency and spectrum of actionable pathogenic secondary findings in 196 Korean exomes. Genet Med. 2015;17:1007-11. 미소장
11 Maxwell KN, Hart SN, Vijai J, Schrader KA, Slavin TP, Thomas T, et al. Evaluation of ACMG-guideline-based variant classification of cancer susceptibility and non-cancer-associated genes in families affected by breast cancer. Am J Hum Genet. 2016;98:801-17. 미소장
12 Park KS, Cho EY, Nam SJ, Ki CS, Kim JW. Comparative analysis of BRCA1 and BRCA2 variants of uncertain significance in patients with breast cancer: a multifactorial probability-based model versus ACMG standards and guidelines for interpreting sequence variants. Genet Med. 2016;18:1250-7. 미소장
13 Pagano M, Gauvreau K. Principles of biostatistics. 2nd ed. Pacific Grove, CA: Duxbury; 2000. 미소장
14 Liu X, Wu C, Li C, Boerwinkle E. dbNSFP v3.0: a one-stop database of functional predictions and annotations for human nonsynonymous and splice-site SNVs. Hum Mutat. 2016;37:235-41. 미소장
15 Jarvik GP, Browning BL. Consideration of cosegregation in the pathogenicity classification of genomic variants. Am J Hum Genet. 2016;98:1077-81. 미소장
16 Chen VB, Davis IW, Richardson DC. KING (Kinemage, Next Generation): a versatile interactive molecular and scientific visualization program. Protein Sci. 2009;18:2403-9. 미소장
17 Petrucelli N, Daly MB, Feldman GL. Hereditary breast and ovarian cancer due to mutations in BRCA1 and BRCA2. Genet Med. 2010;12:245-59. 미소장
18 Futreal PA, Liu Q, Shattuck-Eidens D, Cochran C, Harshman K, Tavtigian S, et al. BRCA1 mutations in primary breast and ovarian carcinomas. Science. 1994;266:120-2. 미소장
19 Shattuck-Eidens D, McClure M, Simard J, Labrie F, Narod S, Couch F, et al. A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. Implications for presymptomatic testing and screening. JAMA. 1995;273:535-41. 미소장
20 Cheon JY, Mozersky J, Cook-Deegan R. Variants of uncertain significance in BRCA: a harbinger of ethical and policy issues to come? Genome Med. 2014;6:121. 미소장
21 Eggington JM, Bowles KR, Moyes K, Manley S, Esterling L, Sizemore S, et al. A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes. Clin Genet. 2014;86:229-37. 미소장
22 Choi DH, Lee MH, Bale AE, Carter D, Haffty BG. Incidence of BRCA1 and BRCA2 mutations in young Korean breast cancer patients. J Clin Oncol. 2004;22:1638-45. 미소장
23 Han SH, Lee KR, Lee DG, Kim BY, Lee KE, Chung WS. Mutation analysis of BRCA1 and BRCA2 from 793 Korean patients with sporadic breast cancer. Clin Genet. 2006;70:496-501. 미소장
24 Jang JH, Lee JE, Kwon MJ, Ki CS, Kim JW, Nam SJ, et al. Spectra of BRCA1 and BRCA2 mutations in Korean patients with breast cancer: the importance of whole-gene sequencing. J Hum Genet. 2012;57:212-5. 미소장
25 Huen MS, Sy SM, Chen J. BRCA1 and its toolbox for the maintenance of genome integrity. Nat Rev Mol Cell Biol. 2010;11:138-48. 미소장
26 Lee MS, Green R, Marsillac SM, Coquelle N, Williams RS, Yeung T, et al. Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays. Cancer Res. 2010;70:4880-90. 미소장
27 Spurdle AB, Whiley PJ, Thompson B, Feng B, Healey S, Brown MA, et al. BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk. J Med Genet. 2012;49:525-32. 미소장

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