ArticleFamilial cancer2019
TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort.
Article in Familial cancer, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 24 citations in OpenAlex.
- Germline Variant Spectrum in Southern Italian High-Risk Hereditary Breast Cancer Patients: Insights from Multi-Gene Panel Testing.Current issues in molecular biology · 2024Article
- Case series of Li-Fraumeni syndrome: carcinogenic mechanisms in breast cancer with TP53 pathogenic variant carriers.Breast cancer (Tokyo, Japan) · 2024Article
- Pedigree analysis exploring the inconsistency between diverse phenotypes and testing criteria for germline TP53 mutations in Chinese women with breast cancer.Breast cancer research and treatment · 2024Article
- Emerging insights into ethnic-specific TP53 germline variants.Journal of the National Cancer Institute · 2023Review
- Overview of the Genetic Causes of Hereditary Breast and Ovarian Cancer Syndrome in a Large French Patient Cohort.Cancers · 2023Article
- Hereditary cancer syndromes.World journal of clinical oncology · 2023Review
- [Li-Fraumeni syndrome].Radiologie (Heidelberg, Germany) · 2022Review
- Familial history and prevalence of BRCA1, BRCA2 and TP53 pathogenic variants in HBOC Brazilian patients from a public healthcare service.Scientific reports · 2022Article
- Article
- Review
- Breast cancer characteristics and surgery among women with Li-Fraumeni syndrome in Germany-A retrospective cohort study.Cancer medicine · 2021Article
- TP53 germline mutations in the context of families with hereditary breast and ovarian cancer: a clinical challenge.Archives of gynecology and obstetrics · 2021Article
- Feedback of extended panel sequencing in 1530 patients referred for suspicion of hereditary predisposition to adult cancers.Clinical genetics · 2021Article
- Prevalence of germline TP53 variants among early-onset breast cancer patients from Polish population.Breast cancer (Tokyo, Japan) · 2021Observational
- New surveillance guidelines for Li-Fraumeni and hereditary TP53 related cancer syndrome: implications for germline TP53 testing in breast cancer.Familial cancer · 2021Article
- GermlineCancers · 2020Review
- Gail Model Underestimates Breast Cancer Risk in Thai Population.Asian Pacific journal of cancer prevention : APJCP · 2019Article
Corrections and comments
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Authors and funding
16 authors at 9 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Early-onset breast cancer may be due to Li-Fraumeni Syndrome (LFS). Current national and international guidelines recommend that TP53 genetic testing should be considered for women with breast cancer diagnosed before the age of 31 years. However, large studies investigating TP53 mutation prevalence in this population are scarce. We collected nationwide laboratory records for all young breast cancer patients tested for TP53 mutations in the Netherlands. Between 2005 and 2016, 370 women diagnosed with breast cancer younger than 30 years of age were tested for TP53 germline mutations, and eight (2.2%) were found to carry a (likely) pathogenic TP53 sequence variant. Among BRCA1/BRCA2 mutation negative women without a family history suggestive of LFS or a personal history of multiple LFS-related tumours, the TP53 mutation frequency was < 1% (2/233). Taking into consideration that TP53 mutation prevalence was comparable or even higher in some studies selecting patients with breast cancer onset at older ages or HER2-positive breast cancers, raises the question of whether a very early age of onset is an appropriate single TP53 genetic testing criterion.
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