Publications by authors named "L De Marchis"
Article Synopsis
- Young women with breast cancer have a higher likelihood of carrying harmful BRCA gene variants, but data on tumor histology's prognostic value is limited.
- A study involving 4,628 patients revealed that lobular tumors are generally diagnosed at a later stage and are more often linked to BRCA2 mutations, while ductal tumors are frequently associated with BRCA1 mutations.
- Despite differences in tumor characteristics and treatment approaches, the study found no significant differences in disease-free or overall survival between those with ductal and lobular tumors, indicating that histology may not influence prognosis.
Background: Hormone receptor expression is a known positive prognostic and predictive factor in breast cancer; however, limited evidence exists on its prognostic impact on prognosis of young patients harboring a pathogenic variant (PV) in the BRCA1 and/or BRCA2 genes.
Patients And Methods: This international, multicenter, retrospective cohort study included young patients (aged ≤40 years) diagnosed with invasive breast cancer and harboring germline PVs in BRCA genes. We investigated the impact of hormone receptor status on clinical behavior and outcomes of breast cancer.
Article Synopsis
- Breast cancer (BC) is rare in women aged ≤40 years with BRCA1/2 variants, but it often presents aggressive features; recent studies show HER2-low expression as a potential treatment target in this subset.
- A study analyzed data from 3,547 young women with newly diagnosed HER2-negative BC, finding that 32.3% exhibited HER2-low status, which was more common in hormone receptor-positive and BRCA2 variant cases.
- Results indicated that HER2-low BC had better disease-free survival (DFS) and overall survival (OS) compared to HER2-0, particularly in triple-negative tumors, with lower grades and more favorable outcomes linked to BRCA2 variants.
Importance: Young women with breast cancer who have germline pathogenic variants in BRCA1 or BRCA2 face unique challenges regarding fertility. Previous studies demonstrating the feasibility and safety of pregnancy in breast cancer survivors included limited data regarding BRCA carriers.
Objective: To investigate cumulative incidence of pregnancy and disease-free survival in young women who are BRCA carriers.
Germline pathogenic variants (PVs) in the Ataxia Telangiectasia mutated () gene (MIM* 607585) increase the risk for breast, pancreatic, gastric, and prostatic cancer and, to a reduced extent, ovarian and colon cancer and melanoma, with moderate penetrance and variable expressivity. We describe a family presenting early-onset gastric cancer and harboring a heterozygous pathogenic variant. The proband had gastric cancer (age 45) and reported a sister deceased due to diffuse gastric cancer (age 30) and another sister who developed diffuse gastric cancer (age 52) and ovarian serous cancer.
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