ArticleBreast cancer research : BCR2015
Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls.
Article in Breast cancer research : BCR, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed.
- Cohort Profile: Lifepool.International journal of epidemiology · 2025Article
- 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
- Cost-Effectiveness of Population-Based Multigene Testing for Breast and Ovarian Cancer Prevention.JAMA network open · 2024Article
- Gender-Specific Genetic Predisposition to Breast Cancer:Cancers · 2024Review
- The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study.Genome medicine · 2023Article
- Mutations ofGenes · 2023Article
- PALB2 germline mutations in a multi-gene panel testing cohort of 1905 breast-ovarian cancer patients in Argentina.Breast cancer research and treatment · 2022Article
- Investigation of monogenic causes of familial breast cancer: data from the BEACCON case-control study.NPJ breast cancer · 2021Article
- Pathogenicity assessment of variants for breast cancer susceptibility genes based on BRCAness of tumor sample.Cancer science · 2021Observational
- The p.Ser64Leu and p.Pro104Leu missense variants of PALB2 identified in familial pancreatic cancer patients compromise the DNA damage response.Human mutation · 2021Article
- The Co-existence of ADHD With Autism in Saudi Children: An Analysis Using Next-Generation DNA Sequencing.Frontiers in genetics · 2020Article
- Co-occurrence of breast cancer and neuroendocrine tumours: New genetic insights beyond Multiple Endocrine Neoplasia syndromes.Endocrinology, diabetes & metabolism · 2019Article
- Prevalence of PALB2 Germline Mutations in Early-onset and Familial Breast/Ovarian Cancer Patients from Pakistan.Cancer research and treatment · 2019Article
- Non-Journal of global oncology · 2019Article
- Population-based genetic testing of asymptomatic women for breast and ovarian cancer susceptibility.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Germline TP53 and MSH6 mutations implicated in sporadic triple-negative breast cancer (TNBC): a preliminary study.Human genomics · 2019Article
- Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity.Breast cancer research : BCR · 2018Article
- Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs.Breast cancer research : BCR · 2018Article
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17 authors.
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Abstract
introductionPALB2 is emerging as a high-penetrance breast cancer predisposition gene in the order of BRCA1 and BRCA2. However, large studies that have evaluated the full gene rather than just the most common variants in both cases and controls are required before all truncating variants can be included in familial breast cancer variant testing.
methodsIn this study we analyse almost 2000 breast cancer cases sourced from individuals referred to familial cancer clinics, thus representing typical cases presenting in clinical practice. These cases were compared to a similar number of population-based cancer-free controls.
resultsWe identified a significant excess of truncating variants in cases (1.3 %) versus controls (0.2 %), including six novel variants (p = 0.0001; odds ratio (OR) 6.58, 95 % confidence interval (CI) 2.3-18.9). Three of the four control individuals carrying truncating variants had at least one relative with breast cancer. There was no excess of missense variants in cases overall, but the common c.1676A > G variant (rs152451) was significantly enriched in cases and may represent a low-penetrance polymorphism (p = 0.002; OR 1.24 (95 % CI 1.09-1.47).
conclusionsOur findings support truncating variants in PALB2 as high-penetrance breast cancer susceptibility alleles, and suggest that a common missense variant may also lead to a low level of increased breast cancer risk.
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