ArticleAmerican journal of medical genetics. Part A2012
Increased risk of breast cancer in women with NF1.
Article in American journal of medical genetics. Part A, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers, 2 of them syntheses that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
57 citing papers in PubMed, 2 syntheses or guidelines pooled it, 121 citations in OpenAlex.
- Cancer risks related to intellectual disabilities: A systematic review.Cancer medicine · 2024Pooled it
- Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2018Guideline
- Perspectives of Adult Patients and Caregivers on the Management and Challenges Associated with Neurofibromatosis Type 1 and Plexiform Neurofibromas: A Multinational Qualitative Survey.Neurology and therapy · 2026Article
- Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.Breast (Edinburgh, Scotland) · 2025Article
- NF1-depleted ERScience translational medicine · 2025Article
- Exome-based cancer predisposition gene testing can provide a genetic diagnosis for individuals with heterogeneous tumor phenotypes.European journal of human genetics : EJHG · 2025Article
- Pregnancy and the Risk for Cancer in Neurofibromatosis 1.Genes, chromosomes & cancer · 2025Article
- Early Young Adult Death Underscores the Need for Adolescent and Young Adult Transition Programs in Neurofibromatosis Type 1.The Journal of pediatrics · 2025Article
- Breast cancer in a patient with neurofibromatosis type 1: A case report and review of literature.Rare tumors · 2025Article
- Breast density in NF1 women: a retrospective study.Familial cancer · 2024Article
- Duodenal neuroendocrine tumor after bilateral breast cancer with type 1 neurofibromatosis: a case report.Surgical case reports · 2024Article
- Article
- Proteogenomic Approaches for the Identification of NF1/Neurofibromin-depleted Estrogen Receptor-positive Breast Cancers for Targeted Treatment.Cancer research communications · 2023Article
- Paget disease of the breast with underlying invasive ductal cancer in neurofibromatosis type 1: a case report.Translational cancer research · 2023Article
- ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1.EClinicalMedicine · 2023Review
- MULTIPLE NEUROENDOCRINE NEOPLASIA IN A PATIENT WITH TYPE I NEUROFIBROMATOSIS (NF1): REPORT OF A NEW MUTATION (NF1, EXONS 2-30 DELETION) AND LITERATURE REVIEW.Arquivos brasileiros de cirurgia digestiva : ABCD = Brazilian archives of digestive surgery · 2023Review
- NSMCE2, a novel super-enhancer-regulated gene, is linked to poor prognosis and therapy resistance in breast cancer.BMC cancer · 2022Article
- Breast cancer in the era of integrating "Omics" approaches.Oncogenesis · 2022Review
- The psychological impact and experience of breast cancer screening in young women with an increased risk of breast cancer due to neurofibromatosis type 1.Familial cancer · 2022Article
- Radiologic screening and surveillance in hereditary cancers.European journal of radiology open · 2022Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder associated with increased risk for neoplasms. Two studies in the United Kingdom have indicated that women with NF1 (particularly women under 50) may also be at increased risk of breast cancer. No such study has been done to date in the United States. Chart review for breast cancer diagnoses was undertaken for 126 women with NF1 followed at Johns Hopkins who were 20 years of age or older. Four of 126 women who met eligibility criteria were diagnosed with breast cancer (3.2% over 15 years). The unadjusted standardized incidence ratio (SIR) for breast cancer in the NF1 population between the ages of 20 and 49 was 2.68 (P = 0.076, 95% CI 0.68-7.29) based on incidence rates of breast cancer in the general population taken from the Surveillance Epidemiology and End Results (SEER) database. The unadjusted SIR for women with NF1 ≥50 was 0.81 (P = 0.84, 95% CI 0.041-4.01). When adjusted for race, the rate of NF1 in the general population and time of diagnosis, the SIR was 4.41 (P = 0.0049, 95% CI 1.12-12.00) for women <50 versus 0.94 (P = 0.95, 95% CI 0.047-4.65) for women ≥50. The trend of a higher-than-expected number of breast cancer cases in women <50 with NF1 agrees with the prior studies from the literature. Cumulatively, the data suggests an increased risk of breast cancer for women with NF1 < 50 years old, implying a need for closer surveillance and the establishment of screening guidelines for this patient population.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.