Bibliographic Details
| Title: |
Defining features of hereditary lobular breast cancer due to CDH1 with magnetic resonance imaging and tumor characteristics |
| Authors: |
Lauren A. Gamble, Paul H. McClelland, Martha E. Teke, Sarah G. Samaranayake, Paul Juneau, Amber L. Famiglietti, Andrew M. Blakely, Bernadette Redd, Jeremy L. Davis |
| Source: |
npj Breast Cancer, Vol 9, Iss 1, Pp 1-10 (2023) |
| Publisher Information: |
Nature Portfolio, 2023. |
| Publication Year: |
2023 |
| Collection: |
LCC:Neoplasms. Tumors. Oncology. Including cancer and carcinogens |
| Subject Terms: |
Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282 |
| More Details: |
Abstract Women with germline pathogenic variants in CDH1, which encodes E-cadherin protein, are at increased lifetime risk of invasive lobular carcinoma (ILC). The associated tumor characteristics of hereditary lobular breast carcinoma (HLBC) in this high-risk population are not well-known. A single-center prospective cohort study was conducted to determine the imaging and pathologic features of HLBC compared to population-based ILC using Surveillance, Epidemiology, and End Results (SEER) data. One hundred fifty-eight women with CDH1 variants were evaluated, of whom 48 (30%) also had an ILC diagnosis. The median age at CDH1 diagnosis was 45 years [interquartile range, IQR 34–57 years] whereas the median age at diagnosis of CDH1 with concomitant ILC (HLBC) was 53 [IQR 45–62] years. Among women with HLBC, 83% (40/48) were identified with CDH1 mutation after diagnosis of ILC. Among 76 women (48%, 76/158) undergoing surveillance for ILC with breast magnetic resonance imaging (MRI), 29% (22/76) had an abnormal MRI result with available biopsy data for comparison. MRI detected ILC in 7 out of 8 biopsy-confirmed cases, corresponding with high sensitivity (88%), specificity (75%), and negative predictive value (98%); however, false-positive and false-discovery rates were elevated also (25% and 68%, respectively). HLBC was most frequently diagnosed at age 40–49 years (44%, 21/48), significantly younger than the common age of diagnosis of ILC in SEER general population data (most frequent age range 60–69 years, 28%; p |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
2374-4677 |
| Relation: |
https://doaj.org/toc/2374-4677 |
| DOI: |
10.1038/s41523-023-00585-4 |
| Access URL: |
https://doaj.org/article/579b714d81824113a576732341bb4f62 |
| Accession Number: |
edsdoj.579b714d81824113a576732341bb4f62 |
| Database: |
Directory of Open Access Journals |
