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dc.contributor.authorvan Veen, E. M.
dc.contributor.authorEvans, D Gareth R
dc.contributor.authorHarkness, E. F.
dc.contributor.authorByers, H. J.
dc.contributor.authorEllingford, J. M.
dc.contributor.authorWoodward, E. R.
dc.contributor.authorBowers, N. L.
dc.contributor.authorWallace, A. J.
dc.contributor.authorHowell, Sacha J
dc.contributor.authorHowell, Anthony
dc.contributor.authorLalloo, F.
dc.contributor.authorNewman, W. G.
dc.contributor.authorSmith, M. J.
dc.date.accessioned2021-04-20T08:08:25Z
dc.date.available2021-04-20T08:08:25Z
dc.date.issued2021en
dc.identifier.citationvan Veen EM, Evans DG, Harkness EF, Byers HJ, Ellingford JM, Woodward ER, et al. Extended gene panel testing in lobular breast cancer. Fam Cancer. 2021.en
dc.identifier.pmid33763779en
dc.identifier.doi10.1007/s10689-021-00241-5en
dc.identifier.urihttp://hdl.handle.net/10541/623962
dc.description.abstractPurpose: Lobular breast cancer (LBC) accounts for ~ 15% of breast cancer. Here, we studied the frequency of pathogenic germline variants (PGVs) in an extended panel of genes in women affected with LBC. Methods: 302 women with LBC and 1567 without breast cancer were tested for BRCA1/2 PGVs. A subset of 134 LBC affected women who tested negative for BRCA1/2 PGVs underwent extended screening, including: ATM, CDH1, CHEK2, NBN, PALB2, PTEN, RAD50, RAD51D, and TP53. Results: 35 PGVs were identified in the group with LBC, of which 22 were in BRCA1/2. Ten actionable PGVs were identified in additional genes (ATM(4), CDH1(1), CHEK2(1), PALB2(2) and TP53(2)). Overall, PGVs in three genes conferred a significant increased risk for LBC. Odds ratios (ORs) were: BRCA1: OR = 13.17 (95%CI 2.83-66.38; P = 0.0017), BRCA2: OR = 10.33 (95%CI 4.58-23.95; P < 0.0001); and ATM: OR = 8.01 (95%CI 2.52-29.92; P = 0.0053). We did not detect an increased risk of LBC for PALB2, CDH1 or CHEK2. Conclusion: The overall PGV detection rate was 11.59%, with similar rates of BRCA1/2 (7.28%) PGVs as for other actionable PGVs (7.46%), indicating a benefit for extended panel genetic testing in LBC. We also report a previously unrecognised association of pathogenic variants in ATM with LBC.en
dc.language.isoenen
dc.relation.urlhttps://dx.doi.org/10.1007/s10689-021-00241-5en
dc.titleExtended gene panel testing in lobular breast canceren
dc.typeArticleen
dc.contributor.departmentManchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchesteren
dc.identifier.journalFamilial Canceren
dc.description.noteen]
refterms.dateFOA2021-04-26T09:22:51Z


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