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    Extended gene panel testing in lobular breast cancer

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    Authors
    van Veen, E. M.
    Evans, D Gareth R
    Harkness, E. F.
    Byers, H. J.
    Ellingford, J. M.
    Woodward, E. R.
    Bowers, N. L.
    Wallace, A. J.
    Howell, Sacha J
    Howell, Anthony
    Lalloo, F.
    Newman, W. G.
    Smith, M. J.
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    Affiliation
    Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester
    Issue Date
    2021
    
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    Abstract
    Purpose: 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.
    Citation
    van 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.
    Journal
    Familial Cancer
    URI
    http://hdl.handle.net/10541/623962
    DOI
    10.1007/s10689-021-00241-5
    PubMed ID
    33763779
    Additional Links
    https://dx.doi.org/10.1007/s10689-021-00241-5
    Type
    Article
    Language
    en
    ae974a485f413a2113503eed53cd6c53
    10.1007/s10689-021-00241-5
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