Frequency of Pathogenic Germline Variants in CDH1, BRCA2, CHEK2, PALB2, BRCA1, and TP53 in Sporadic Lobular Breast Cancer

Christos Petridis, Iteeka Arora, Vandna Shah, Charlotte L. Moss, Anca Mera, Angela Clifford, Cheryl Gillett, Sarah E. Pinder, Ian Tomlinson, Rebecca Roylance, Michael A. Simpson, Elinor J. Sawyer
<span title="">2019</span> <i title="American Association for Cancer Research (AACR)"> <a target="_blank" rel="noopener" href="" style="color: black;">Cancer Epidemiology, Biomarkers and Prevention</a> </i> &nbsp;
Invasive lobular breast cancer (ILC) accounts for approximately 15% of invasive breast carcinomas and is commonly associated with lobular carcinoma in situ (LCIS). Both have been shown to have higher familial risks than the more common ductal cancers. However, there are little data on the prevalence of the known high and moderate penetrance breast cancer predisposition genes in ILC. The aim of this study was to assess the frequency of germline variants in CDH1, BRCA2, BRCA1, CHEK2, PALB2, and
more &raquo; ... 53 in sporadic ILC and LCIS diagnosed in women ages ≤60 years.
<span class="external-identifiers"> <a target="_blank" rel="external noopener noreferrer" href="">doi:10.1158/1055-9965.epi-18-1102</a> <a target="_blank" rel="external noopener" href="">pmid:31263054</a> <a target="_blank" rel="external noopener" href="">fatcat:4puopr3ajraxxl56ojrs2hvmya</a> </span>
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