ArticleBMC cancer2021
Germline mutations in a clinic-based series of pregnancy associated breast cancer patients.
Article in BMC cancer, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
What it found
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Who cites it
7 citing papers in PubMed, 15 citations in OpenAlex.
- Diagnosis and treatment of breast cancer during pregnancy: a comprehensive review.Frontiers in medicine · 2026Review
- Molecular characterization of pregnancy-associated breast cancer and insights on timing from GEICAM-EMBARCAM study.NPJ breast cancer · 2025Article
- Pregnancy and breast cancer in young women: current updates and future directions.Therapeutic advances in medical oncology · 2025Review
- Article
- Breast Carcinogenesis during Pregnancy: Molecular Mechanisms, Maternal and Fetal Adverse Outcomes.Biology · 2023Review
- Breast MRI during pregnancy and lactation: clinical challenges and technical advances.Insights into imaging · 2022Review
- Clinicopathologic features, treatment, and prognosis of pregnancy-associated breast cancer.Frontiers in oncology · 2022Article
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPregnancy-associated breast cancer (PABC) defined as breast cancer diagnosed during gestation, lactation or within 1 year after delivery, represents a truly challenging situation with significantly increasing incidence rate. The genomic background of PABC has only recently been addressed while the underlying mechanisms of the disease still remain unknown. This analysis aims to further elucidate the frequency of PABC cases attributable to genetic predisposition and identify specific cancer susceptibility genes characterizing PABC.
methodsA comprehensive 94-cancer gene panel was implemented in a cohort of 20 PABC patients treated in our clinic and descriptive correlation was performed among the results and the patients' clinicopathological data.
resultsIn the present study, 35% of PABC patients tested carried pathogenic mutations in two known cancer predisposition genes (BRCA1 and CHEK2). In total, 30% of the patients carried BRCA1 pathogenic variants. An additional 5% carried pathogenic variants in the CHEK2 gene. Variants of unknown/uncertain significance (VUS) in breast cancer susceptibility genes BRCA2, CHEK2 and BRIP1 were also identified in three different PABC patients (15%). Not all patients carrying germline mutations reported known family history of cancer.
conclusionsGenetic testing should be considered as an option for PABC patients since the disease is highly associated with genetic susceptibility among other predisposing factors. Germline mutation identification may further modify PABC management approach and improve the prognostic outcome.
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