ArticleCancer2020
Spectrum of PALB2 germline mutations and characteristics of PALB2-related breast cancer: Screening of 16,501 unselected patients with breast cancer and 5890 controls by next-generation sequencing.
Article in Cancer, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 42 citations in OpenAlex.
- Bilateral Primary Breast Cancer: Current Evidence and Future Perspectives.Breast cancer (Dove Medical Press) · 2026Review
- Characterization of Copy Number Variants in Hereditary Cancer Patients Through NGS Shows a Distinctive PALB2 Contribution to the Diagnostic Yield.Human mutation · 2026Article
- Review
- Clinical and Morphological Features of gPALB2-Associated Breast Cancer in the Russian Population.Bulletin of experimental biology and medicine · 2025Article
- Hereditary breast cancer beyond BRCA: clinicopathological characteristics and long-term outcomes.Familial cancer · 2025Article
- Precision therapy in metastatic breast cancer: the current landscape of molecular alteration-based therapies.Translational breast cancer research : a journal focusing on translational research in breast cancer · 2025Review
- Clinicopathological Features and Oncological Outcomes of Germline Partner and Localizer of Breast Cancer 2-Mutated Breast Cancer in Korea.Journal of breast cancer · 2024Article
- Germline Variant Spectrum in Southern Italian High-Risk Hereditary Breast Cancer Patients: Insights from Multi-Gene Panel Testing.Current issues in molecular biology · 2024Article
- Spectrum and characteristics of germline PALB2 pathogenic variants in 1556 early-onset breast cancer patients in China.Journal of cancer research and clinical oncology · 2024Article
- PALB2-mutated human mammary cells display a broad spectrum of morphological and functional abnormalities induced by increased TGFβ signaling.Cellular and molecular life sciences : CMLS · 2024Article
- CharacterizingFrontiers in oncology · 2024Article
- Article
- Management of PALB2-associated breast cancer: A literature review and case report.Clinical case reports · 2023Article
- Impact of High-to-Moderate Penetrance Genes on Genetic Testing: Looking over Breast Cancer.Genes · 2023Article
- Harnessing Epigenetics for Breast Cancer Therapy: The Role of DNA Methylation, Histone Modifications, and MicroRNA.International journal of molecular sciences · 2023Review
- Genetic, Surgical and Oncological Approach to Breast Cancer, withEuropean journal of breast health · 2023Article
- Implication and Influence of Multigene Panel Testing with Genetic Counseling in Korean Patients with BRCA1/2 Mutation-Negative Breast Cancer.Cancer research and treatment · 2022Article
- PALB2 germline mutations in a multi-gene panel testing cohort of 1905 breast-ovarian cancer patients in Argentina.Breast cancer research and treatment · 2022Article
- Characterisation of protein-truncating and missense variants inJournal of medical genetics · 2022Article
- NAP1L1 interacts with hepatoma-derived growth factor to recruit c-Jun inducing breast cancer growth.Cancer cell international · 2021Article
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Authors and funding
9 authors at 6 institutions in 1 country.
Funding
Abstract
backgroundPartner and localizer BRCA2 (PALB2) is a breast cancer predisposition gene, but the clinical relevance of PALB2 germline mutations in Chinese patients with breast cancer remains unknown. This study attempted to investigate the full prevalence and spectrum of PALB2 germline mutations in China and the associations between PALB2 germline mutations and breast cancer risk.
methodsA total of 21,216 unselected patients with breast cancer were enrolled from 10 provinces in China, and 5890 Chinese women without cancer were enrolled as healthy controls. PALB2 screening was based on next-generation sequencing.
resultsA total of 16,501 BRCA1/2-negative patients with breast cancer were analyzed. Deleterious PALB2 mutation carriers accounted for 0.97% (n = 160) in the breast cancer cohort and for 0.19% (n = 11) in the healthy control cohort. Forty-one novel PALB2 germline mutations were identified. A high frequency of PALB2 c.751C>T was detected, and it accounted for 10.63% of the PALB2 germline mutations detected (17 of 160). PALB2 mutations were significantly associated with increased breast cancer risk (odds ratio [OR], 5.23; 95% confidence interval [CI], 2.84-9.65; P < .0001), especially among women 30 years old or younger (OR, 10.09; 95% CI, 3.95-25.79; P < .0001). Clinical characteristics, including a family history, bigger tumor size, triple-negative breast cancer, positive lymph nodes, and bilateral breast cancer, were closely related to PALB2 mutations.
conclusionsThis study revealed a comprehensive spectrum of PALB2 germline mutations and characteristics of PALB2-related breast cancer in China. PALB2 germline mutations confer a moderately increased risk for breast cancer but profoundly increase breast cancer risk for those 30 years old or younger in the Chinese population.
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