ReviewJournal of cancer research and clinical oncology2025
Hereditary diffuse gastric and lobular breast cancer syndrome associated with germline CDH1 variants: focus on lobular breast cancer.
Review in Journal of cancer research and clinical oncology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Gastric and peritoneal metastases from breast carcinoma with a mixed ductal-lobular phenotype and aberrant E-cadherin: a case report.Journal of surgical case reports · 2026Article
- A case of invasive lobular carcinoma with signet-ring-cell differentiation treated with multidisciplinary therapy: a rare case report.Frontiers in oncology · 2026Article
Corrections and comments
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Authors and funding
6 authors.
Funding
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Abstract
backgroundHereditary lobular breast cancer (HLBC) is a distinct subset of hereditary breast cancer primarily associated with germline pathogenic variants in the CDH1 gene, which encodes E-cadherin, a crucial protein in cell adhesion. Loss of E-cadherin disrupts tissue architecture, contributing to the invasive growth pattern characteristic of lobular carcinoma. CDH1 mutations are also implicated in hereditary diffuse gastric cancer, predisposing some patients to both cancers. However, variable cancer risk is observed, as many HLBC patients with a family history of gastric cancer do not develop gastric malignancies, reflecting the complex interplay of E-cadherin's role in cell cohesion and tumorigenesis. MAIN BODY: HLBC accounts for 4-5% of lobular breast cancer cases, even in the absence of a personal or family history of gastric cancer. These tumors typically present as hormone receptor-positive (estrogen receptor-positive and progesterone receptor-positive) and are often diagnosed at advanced stages due to their diffuse growth pattern and subtle imaging characteristics. Recent evidence underscores the importance of genetic screening for CDH1 mutations in women with early-onset bilateral lobular breast cancer or a strong family history of breast cancer. Despite the strong correlation between CDH1 mutations and HLBC, the absence of diffuse gastric cancer in many patients presents diagnostic challenges. Updated guidelines emphasize targeted surveillance and risk-reduction strategies, including prophylactic mastectomy for high-risk individuals, aiming to improve clinical outcomes.
conclusionThis mini-review synthesizes recent advancements in understanding the genetics, diagnostic complexities, and clinical management of HLBC. The findings highlight the critical need for early identification and personalized approaches to optimize surveillance and therapeutic strategies for patients with this unique hereditary cancer.
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