ArticleGynecologic oncology2016
Genetic characterization of early onset ovarian carcinoma.
Article in Gynecologic oncology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 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
20 citing papers in PubMed, 2 syntheses or guidelines pooled it, 24 citations in OpenAlex.
- Summary ofGenes · 2020Pooled it
- BRIP1, RAD51C, and RAD51D mutations are associated with high susceptibility to ovarian cancer: mutation prevalence and precise risk estimates based on a pooled analysis of ~30,000 cases.Journal of ovarian research · 2020Pooled it
- Definition of Sporadic Early-Onset Invasive Solid Organ Cancers in Adults.Oncology and therapy · 2026Article
- Genetic tumor syndromes in female cancer: insights into inherited cancer predisposition and clinical implications.Archives of gynecology and obstetrics · 2026Review
- Therapeutic targeting of post-translational modifications in ovarian cancer: mechanisms and clinical applications.Journal of ovarian research · 2025Review
- BRCA1/2 methylation and expression dynamics in hereditary breast and ovarian cancer: insights from gene, protein, and TCGA analysis.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2025Article
- Myeloid cell networks govern re-establishment of original immune landscapes in recurrent ovarian cancer.Cancer cell · 2025Article
- Association ofGynecology and pelvic medicine · 2025Article
- GermlineJournal of personalized medicine · 2024Article
- Perinatal Famine Exposure and Young-Onset Cancer-Lessons from China Health and Nutrition Survey.Cancers · 2024Article
- Early-Onset Ovarian Cancer <30 Years: What Do We Know about Its Genetic Predisposition?International journal of molecular sciences · 2023Review
- Article
- Epithelial Ovarian Cancer: Providing Evidence of Predisposition Genes.International journal of environmental research and public health · 2022Review
- The Genetic and Molecular Analyses ofCancers · 2022Article
- Gastrointestinal Adenocarcinoma Incidence and Survival Trends in South Australia, 1990-2017.Cancers · 2022Article
- Article
- Cell-autonomous inflammation of BRCA1-deficient ovarian cancers drives both tumor-intrinsic immunoreactivity and immune resistance via STING.Cell reports · 2021Article
- Young-Onset Carcinogenesis - The Potential Impact of Perinatal and Early Life Metabolic Influences on the Epigenome.Frontiers in oncology · 2021Article
- We Asked the Experts: Providing the Road Map to Uncovering the Pathophysiology of Young-Onset Cancer to Guide Treatment and Preventive Strategies.World journal of surgery · 2020Article
- Increased single-strand annealing rather than non-homologous end-joining predicts hereditary ovarian carcinoma.Oncotarget · 2017Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
objectiveOvarian carcinoma (OC) is rare in young women and the fraction of early onset OC attributable to inherited mutations in known OC genes is uncertain. We sought to characterize the fraction of OC that is heritable in women diagnosed with ovarian, fallopian tube, or peritoneal carcinoma at forty years of age or younger.
methodsWe sequenced germline DNA from forty-seven women diagnosed with OC at age 40 or younger ascertained through a gynecologic oncology tissue bank or referred from outside providers using BROCA, a targeted capture and massively parallel sequencing platform that can detect all mutation classes. We evaluated 11 genes associated with ovarian carcinoma (BARD1, BRCA1, BRCA2, BRIP1, MLH1, MSH2, MSH6, PALB2, PMS2, RAD51D, and RAD51C) and additional candidate genes in DNA repair (ATM, BAP1, CHEK2, MRE11A, NBN, PTEN, TP53). We counted only clearly damaging mutations.
resultsDamaging mutations in OC genes were identified in 13 of 47 (28%) subjects, of which 10 (77%) occurred in BRCA1 and one each occurred in BRCA2, MSH2, and RAD51D. Women with a strong family history were no more likely to have an OC gene mutation (8/17, 47%) than those without a strong family history (9/30, 30%, P=0.35). Additionally, damaging mutations in non-OC genes were identified, one in NBN and one in CHEK2.
conclusionsA high proportion of young women with invasive OC have mutations in BRCA1, and a smaller fraction have mutations in other known OC genes. Family history was not associated with mutation status in these early onset cases.
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