Table 4. Reclassification frequency of BRCA1 and BRCA2 VUS.
Study | Type of cancer | Total No. of patients | No. of initial VUS type | No. of reviewed VUS type | Reclassified class | Reclassification method | Country | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
B (%) | LB (%) | VUS (%) | LP (%) | P (%) | |||||||
Mighton et al. [21] | Breast, colon | 6,090 | 453 | 154 | 26.6 | 14.9 | 56.5 | 1.3 | 0.6 | Nationwide database | Canada |
So et al. [10] | Breast, ovary | 423 | 48 | 48 | 6.3 | 20.8 | 68.8 | 4.2 | 0.0 | ACMG/AMP 2015 guideline | Korea |
Lee et al. [11] | Breast | 2,115 | 286 | 83 | 0.0 | 67.4 | 27.7 | 3.5 | 1.2 | Multifactorial probability-based model | Korea |
ACMG/AMP 2015 guideline | |||||||||||
Park et al. [7] | HBOC | 745 | 86 | 86 | 10.4 | 41.9 | 40.7 | 1.7 | 5.8 | ACMG/AMP 2015 guideline | Korea |
Present study | EOC, FTC, PPC | 805 | 108 | 108 | 15.7 | 12.0 | 66.7 | 4.6 | 1.0 | ACMG/AMP 2015 guideline | Korea |
ACMG/AMP, American College of Medical Genetics and Genomics and the Association for Molecular Pathology; B, benign; EOC, epithelial ovarian cancer; FTC, fallopian tube cancer; HBOC, hereditary breast and ovarian cancer syndrome; LB, likely benign; LP, likely pathogenic; P, pathogenic; PPC, primary peritoneal cancer; VUS, variants of unknown significance.