ArticleJournal of clinical oncology : official journal of the American Society of Clinical Oncology2010
Association of BRCA1 mutations with occult primary ovarian insufficiency: a possible explanation for the link between infertility and breast/ovarian cancer risks.
Article in Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 164 papers, 9 of them syntheses 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.
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Who cites it
164 citing papers in PubMed, 9 syntheses or guidelines pooled it, 346 citations in OpenAlex.
- The impact of BRCA mutation and hormone receptor status on the outcomes of fertility preservation in breast cancer patients: a systematic review and meta-analysis.Frontiers in oncology · 2025Pooled it
- Pharmacogenomic studies of fertility outcomes in pediatric cancer survivors - A systematic review.Clinical and translational science · 2024Pooled it
- Ovarian reserve of women with and without BRCA pathogenic variants: A systematic review and meta-analysis.Breast (Edinburgh, Scotland) · 2021Pooled it
- Association of Germline BRCA Pathogenic Variants With Diminished Ovarian Reserve: A Meta-Analysis of Individual Patient-Level Data.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2021Pooled it
- Navigating the body of literature assessing BRCA1/2 mutations and markers of ovarian function: a systematic review and meta-analysis.Journal of assisted reproduction and genetics · 2020Pooled it
- Risk of ovarian cancer in women treated with ovarian stimulating drugs for infertility.The Cochrane database of systematic reviews · 2019Pooled it
- BRCA Mutations, DNA Repair Deficiency, and Ovarian Aging.Biology of reproduction · 2015Pooled it
- DNA mismatch repair gene MSH6 implicated in determining age at natural menopause.Human molecular genetics · 2014Pooled it
- Risk of ovarian cancer in women treated with ovarian stimulating drugs for infertility.The Cochrane database of systematic reviews · 2013Pooled it
- Reproductive Challenges in Mutated BRCA Gene Carriers: A Narrative Review.Current issues in molecular biology · 2026Review
- A retrospective case-control study of in vitro fertilization in patients with BRCA1/2 mutation.Journal of assisted reproduction and genetics · 2026Article
- The relationship between different hormone receptors in breast cancer patients and ovarian response before chemotherapy; a retrospective cohort study.BMC women's health · 2026Article
- Insights into Ovarian Cancer: Unraveling the Role of DNA Double-strand Break-related Genes in Pathogenesis and Therapeutic Avenues.Reproductive sciences (Thousand Oaks, Calif.) · 2026Review
- Review
- Oncofertility in the Age of HER2 Blockade, Immunotherapy, PARP inhibitors, CDK4/6 inhibitors and Endocrine Treatment: Unanswered Questions in Breast Cancer.Current treatment options in oncology · 2026Review
- Natural menopause, menarche and breast cancer risk in BRCA1 and BRCA2 pathogenic variant carriers: a Mendelian randomization analysis.British journal of cancer · 2026Article
- Impact of Breast Cancer on Ovarian Function: Dysregulation of Cholesterol Homeostasis in Cumulus Cells and Follicular Fluid.Cancers · 2026Article
- Lactobacillus salivarius li01 alleviates premature ovarian insufficiency via gut microbiota-mediated modulation of tryptophan metabolism.NPJ science of food · 2026Article
- Pregnancy with vitrified oocytes after fertility sparing surgery in a patient with fallopian tube cancer and a BRCA2 mutation: A case report and literature review.Oncology letters · 2026Article
- Advances in multi-omics and aging clock research for female reproductive health and aging.MedScience · 2026Review
104 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
4 authors at 3 institutions in 1 country.
Funding
Abstract
purposeGermline mutations in BRCA genes are associated with breast and ovarian cancer susceptibility. Because infertility is associated with breast and ovarian cancer risks, we hypothesized that the mutations in the BRCA gene may be associated with low response to fertility treatments.
methodsWe performed ovarian stimulation in 126 women with breast cancer by using letrozole and gonadotropins for the purpose of fertility preservation by embryo or oocyte cryopreservation. As surrogates of ovarian reserve, the oocyte yield and the incidence of low response were compared with ovarian stimulation according to BRCA mutation status.
resultsOf the 82 women who met the inclusion criteria, 47 women (57%) had undergone BRCA testing, and 14 had a mutation in BRCA genes, of which two were of clinically undetermined significance. In BRCA mutation-positive patients, low ovarian response rate was significantly higher compared with BRCA mutation-negative patients (33.3 v 3.3%; P = .014) and with BRCA-untested women (2.9%; P = .012). All BRCA mutation-positive low responders had BRCA1 mutations, but low response was not encountered in women who were only BRCA2 mutation positive. Compared with controls, BRCA1 mutation- but not BRCA2 mutation-positive women produced lower numbers of eggs (7.4 [95% CI, 3.1 to 17.7] v 12.4 [95% CI, 10.8 to 14.2]; P = .025) and had as many as 38.3 times the odds ratio of low response (95% CI, 4.1 to 353.4; P = .001).
conclusionBRCA1 mutations are associated with occult primary ovarian insufficiency. This finding may, at least in part, explain the link between infertility and breast/ovarian cancer risks.
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What OpenQuestion holds
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.