CDH1 mutation screen in a BRCA1/2-negative familial breast-/ovarian cancer cohort
Stuebs F, Heidemann S, Caliebe A, Mundhenke C, Arnold N (2018)
Publication Type: Journal article
Publication year: 2018
Journal
Book Volume: 297
Pages Range: 147-152
Journal Issue: 1
DOI: 10.1007/s00404-017-4551-1
Abstract
Purpose: Mutations in the CDH1 gene are linked both to diffuse gastric cancer and invasive lobular carcinoma (ILC). A high mutation rate is found in families fulfilling the diagnostic criteria for hereditary diffuse gastric cancer. Aim of this study was to clarify whether or not there is a significant contribution of CDH1 mutations in hereditary breast-/ovarian cancer (HBOC). Methods: Ninety-seven unrelated probands fulfilling the diagnostic criteria for HBOC (96 affected, 1 unaffected) but tested negative for pathogenic BRCA1/2 mutations were screened for CDH1 mutations by denaturing high performance liquid chromatography (DHPLC) and subsequent Sanger sequencing of suspicious and positive DHPLC results. Results: In total, we found two potentially pathogenic CDH1 alterations, c.1774G > A, pAla592Thr, and c.2512 A > G, p.Ser838Gly, classified as variants of unknown significance according to ClinVar. In addition, we detected a high number of known CDH1 polymorphisms (n = 62), some of them more frequent in patients with lobular (55%) than in those with invasive ductal carcinoma (27%). Conclusion: Although none of the probands studied carried a clearly pathogenic CDH1 mutation, CDH1 could be considered a potential breast cancer gene, esp. for ILC worth including it in the NGS (next generation sequencing) HBOC panel.
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Germany (DE)How to cite
APA:
Stuebs, F., Heidemann, S., Caliebe, A., Mundhenke, C., & Arnold, N. (2018). CDH1 mutation screen in a BRCA1/2-negative familial breast-/ovarian cancer cohort. Archives of Gynecology and Obstetrics, 297(1), 147-152. https://doi.org/10.1007/s00404-017-4551-1
MLA:
Stuebs, Frederik, et al. "CDH1 mutation screen in a BRCA1/2-negative familial breast-/ovarian cancer cohort." Archives of Gynecology and Obstetrics 297.1 (2018): 147-152.
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