ArticleCancer2013
BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma.
Article in Cancer, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04080284 (Trial of Maintenance With Niraparib in Patients With Stage III, Stage IV or Platinum-sensitive Recurrent Uterine Serous Carcinoma), which is not on this map. Cited by 56 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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.
Trial of Maintenance With Niraparib in Patients With Stage III, Stage IV or Platinum-sensitive Recurrent Uterine Serous Carcinoma
Who cites it
56 citing papers in PubMed, 1 synthesis or guideline pooled it, 119 citations in OpenAlex.
- The proportion of endometrial cancers associated with Lynch syndrome: a systematic review of the literature and meta-analysis.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Pooled it
- Pathologic findings at risk-reducing salpingo-oophorectomy: primary results from Gynecologic Oncology Group Trial GOG-0199.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2014Trial
- Clinicopathological and molecular features of uterine smooth muscle tumours in patients with Li-Fraumeni syndrome.Histopathology · 2026Article
- Uterine serous carcinoma and germline genetic testing: patterns of referral, completion and pathogenic variant detection.Journal of medical genetics · 2026Article
- Examining the connection between BRCA1/2 mutations and uterine cancer: a comprehensive review.Annals of medicine and surgery (2012) · 2026Review
- Impaired glucose tolerance in women with BRCA1 versus BRCA2 pathogenic or likely pathogenic variants: Results from a prospective cohort study.Familial cancer · 2026Article
- Comparison of clinical, pathological and genomic characteristics between Lynch and non-Lynch patients with MMRd endometrial carcinoma.BMC cancer · 2026Article
- Diagnostic accuracy and prognostic factors of uterine serous carcinoma in Japanese women: a multi-center study.Journal of gynecologic oncology · 2025Article
- Functional characterization of BRCA1 variants of unknown significance using homologous recombination repair assays.Breast cancer research : BCR · 2025Article
- An engineered glutamic acid tRNA for efficient suppression of pathogenic nonsense mutations.Nucleic acids research · 2025Article
- Article
- Pathogenic germline variants among women with uterine cancer by ancestry: A commercial laboratory collaborative research registry study.Gynecologic oncology · 2025Article
- Germline genetic testing reveals pathogenic variants in uterine serous carcinoma patients.Gynecologic oncology reports · 2024Article
- Advantages of Robotic Surgery for Patients of Reproductive Age with Endometrial Cancer.Life (Basel, Switzerland) · 2024Review
- Type I or Type II Endometrial Carcinoma? Role of BRCA1 Immunohistochemistry.Asian Pacific journal of cancer prevention : APJCP · 2024Article
- Article
- Comprehensive analysis of germline drivers in endometrial cancer.Journal of the National Cancer Institute · 2023Article
- Preoperative screening endometrial cytology discovered incidental gynaecological malignancy in two patients undergoing risk-reducing salpingo-oophorectomy.BMJ case reports · 2023Article
- Mutational landscape of homologous recombination-related genes in small-cell lung cancer.Cancer medicine · 2023Article
- Association between missense variants of uncertain significance in theFrontiers in genetics · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundUterine serous carcinoma (USC) is not recognized as part of any defined hereditary cancer syndrome, and its association with hereditary breast and ovarian carcinoma and Lynch syndrome are uncertain.
methodsUsing targeted capture and massively parallel genomic sequencing, 151 subjects with USC were assessed for germline mutations in 30 tumor suppressor genes, including BRCA1 (breast cancer 1, early onset), BRCA2, the DNA mismatch repair genes (MLH1 [mutL homolog 1], MSH2 [mutS homolog 2], MSH6, PMS2 [postmeiotic segregation increased 2]), TP53 (tumor protein p53), and 10 other genes in the Fanconi anemia-BRCA pathway. Ten cases with < 10% serous histology were also assessed.
resultsSeven subjects (4.6%) carried germline loss-of-function mutations: 3 subjects (2.0%) with mutations in BRCA1, 2 subjects (1.3%) with mutations in TP53, and 2 subjects (1.3%) with mutations in CHEK2 (checkpoint kinase 2). One subject with < 10% serous histology had an MSH6 mutation. Subjects with MSH6 and TP53 mutations had neither personal nor family histories suggestive of Lynch or Li-Fraumeni syndromes. Of the 22 women with USC and a personal history of breast carcinoma, the frequency of BRCA1 mutations was 9%, compared to 0.9% in 119 women with no such history.
conclusionsApproximately 5% of women with USC have germline mutations in 3 different tumor suppressor genes: BRCA1, CHEK2, and TP53. Mutations in DNA mismatch repair genes that cause Lynch syndrome are rare in USC. The germline BRCA1 mutation rate in USC subjects of 2% is higher than expected in a nonfounder population, suggesting that USC is associated with hereditary breast and ovarian carcinoma in a small proportion of cases. Women with USC and breast cancer should be offered genetic testing for BRCA1 and BRCA2 mutations.
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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.