ArticleAmerican journal of human biology : the official journal of the Human Biology Council
Impact of BRCA mutations on female fertility and offspring sex ratio.
Article in American journal of human biology : the official journal of the Human Biology Council. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
28 citing papers in PubMed, 2 syntheses or guidelines pooled it, 51 citations in OpenAlex.
- 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
- Homozygosity for the WRN Helicase-Inactivating Variant, R834C, does not confer a Werner syndrome clinical phenotype.Scientific reports · 2017Trial
- Reproductive Challenges in Mutated BRCA Gene Carriers: A Narrative Review.Current issues in molecular biology · 2026Review
- Review
- Reduced reproductive potential in young healthy women with hereditary breast and/or ovarian cancer syndrome.Communications medicine · 2025Article
- In search of the genetic variants of human sex ratio at birth: was Fisher wrong about sex ratio evolution?Proceedings. Biological sciences · 2024Article
- The Impact of BRCA1- and BRCA2 Mutations on Ovarian Reserve Status.Reproductive sciences (Thousand Oaks, Calif.) · 2023Article
- The emergence of Fanconi anaemia type S: a phenotypic spectrum of biallelicFrontiers in oncology · 2023Review
- Review
- Reproductive issues in carriers of germline pathogenic variants in the BRCA1/2 genes: an expert meeting.BMC medicine · 2021Article
- Broadening the spectrum of cancer genes under selection in human populations.FASEB bioAdvances · 2021Article
- The Coupon Collection Behavior in Human Reproduction.Current biology : CB · 2020Article
- Gender of offspring and risk of ovarian cancer: The HOPE study.Cancer epidemiology · 2020Article
- BRCA-related ATM-mediated DNA double-strand break repair and ovarian aging.Human reproduction update · 2020Review
- Antagonistic Pleiotropy in Human Disease.Journal of molecular evolution · 2020Review
- BRCA1 mutation carriers have a lower number of mature oocytes after ovarian stimulation for IVF/PGD.Journal of assisted reproduction and genetics · 2017Article
- Antimüllerian hormone levels are lower in BRCA2 mutation carriers.Fertility and sterility · 2017Article
- Importance of hereditary and selected environmental risk factors in the etiology of inflammatory breast cancer: a case-comparison study.BMC cancer · 2016Article
- Breast cancer 1 (BRCA1)-deficient embryos develop normally but are more susceptible to ethanol-initiated DNA damage and embryopathies.Redox biology · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
Abstract
Positive selection for inherited mutations in breast and ovarian cancer predisposing genes, BRCA1 and BRCA2, may contribute to the high frequency of BRCA mutations among the Ashkenazi Jewish population. Impact of BRCA mutations on fertility has not been generally explored in epidemiologic studies. There are reports of distorted sex ratios in BRCA carrier families but these findings have been attributed to bias. We investigated the effect of BRCA mutations on female fertility and offspring sex ratio in a study of 260 Ashkenazi Jewish women with ovarian cancer and 331 controls, unselected for age or family history of the disease. Pregnancy success was similar for 96 mutation carrier (0.84) and 164 noncarrier cases (0.87) and controls (0.83). After adjusting for covariates, there were no significant differences between BRCA carrier and noncarrier cases and controls with regards to fertility, despite lower pregnancy rates among all cases compared to controls (P = 0.0049). Male/female sex ratios were significantly lower among offspring of carriers (0.71) than offspring of noncarriers (0.95) or those of the controls (0.99). Comparisons among the three groups yielded statistically significant distortion against males among the offspring of known and obligate BRCA carriers compared to noncarriers (OR = 0.74, 95% CI:0.55-0.99) and controls (OR = 0.71, 95% CI:0.54-0.94). In conclusion, we did not find evidence for an effect of BRCA mutations on female fertility. We found a significant excess of females among the offspring of female carriers of BRCA1 and BRCA2 mutations. Potential contribution of observed sex ratio distortions to positive selection for BRCA mutations may warrant further investigation.
Indexed as
Identifiers
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.