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Gene panel testing for breast cancer reveals differential effect of prior BRCA1/2 probability
Evans, D Gareth R van Veen, E M Woodward, E R Harkness, E F Ellingford, J M Bowers, N L Wallace, A J Lalloo, F
Evans, D Gareth R
van Veen, E M
Woodward, E R
Harkness, E F
Ellingford, J M
Bowers, N L
Wallace, A J
Lalloo, F
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Abstract
Whilst panel testing of an extended group of genes including BRCA1/2 is commonplace, these studies have not been subdivided by histiotype or by a priori BRCA1/2 probability. Patients with a breast cancer diagnosis undergoing extended panel testing were assessed for frequency of actionable variants in breast cancer genes other than BRCA1/2 by histiotype and Manchester score (MS) to reflect a priori BRCA1/2 likelihood. Rates were adjusted by prior testing for BRCA1/2 in an extended series. 95/1398 (6.3%) who underwent panel testing were found to be positive for actionable non-BRCA1/2 breast/ovarian cancer genes (ATM, BARD1, CDH1, CHEK2, PALB2, PTEN, RAD51C, RAD51D, TP53). As expected, PALB2, CHEK2 and ATM were predominant with 80-(5.3%). The highest rate occurred in Grade-3 ER+/HER2- breast cancers-(9.6%). Rates of non-BRCA actionable genes was fairly constant over all likelihoods of BRCA1/2 but adjusted rates were three times higher with MS < 9 (BRCA1/2 = 1.5%, other = 4.7%), but was only 1.6% compared to 79.3% with MS ≥ 40. Although rates of detection of non-BRCA actionable genes are relatively constant across BRCA1/2 likelihoods this disguises an overall adjusted low frequency in high-likelihood families which have been heavily pre-tested for BRCA1/2. Any loss of detection sensitivity for BRCA1/2 actionable variants in breast cancer panels should lead to bespoke BRCA1/2 testing being conducted first.
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Date
2021
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Article
Citation
Evans DG, van Veen EM, Woodward ER, Harkness EF, Ellingford JM, Bowers NL, et al. Gene Panel Testing for Breast Cancer Reveals Differential Effect of Prior BRCA1/2 Probability. Cancers. 2021 Aug 18;13(16):4154.