# Treatment of infertility and risk of breast cancer among women with a BRCA pathogenic variant: a matched case-control study

**Authors:** Marta Seca, Jacek Gronwald, Tomasz Huzarski, Karen Glass, Amber Aeilts, Raymond H. Kim, Beth Karlan, Christian F. Singer, Andrea Eisen, Nadine Tung, Olufunmilayo Olopade, Louise Bordeleau, Pal Moller, William D. Foulkes, Susan L. Neuhausen, Fergus Couch, Tuya Pal, Robert Fruscio, Cezary Cybulski, Jan Lubinski, Shana Kim, Ping Sun, Steven A. Narod, Joanne Kotsopoulos, Tracy Graham, Tracy Graham, Kevin Sweet, Christine Elser, Georgia Wiesner, Aletta Poll, Ellen Warner, Larissa Peck, Emily Thain, Laura Redondo, Linda Steele, Howard Saal, Susan Neuhausen, Kim Serfas, Seema Panchal, Carey A. Cullinane, Robert E. Reilly, Daniel Rayson, Leanne Mercer, Jeffrey Dungan, Stephanie Cohen, Edmond Lemire, Stefania Zovato, Antonella Rastelli, Sophie Sun, Intan Schraeder, Leigha Senter, Joanne L. Blum

PMC · DOI: 10.1186/s12885-025-15146-0 · BMC Cancer · 2025-11-10

## TL;DR

This study found no increased breast cancer risk from infertility or fertility treatments in women with BRCA gene mutations.

## Contribution

First large international study to evaluate fertility treatment impact on breast cancer risk in BRCA carriers.

## Key findings

- No significant association between infertility and BRCA-related breast cancer risk.
- Fertility medications and IVF did not increase breast cancer risk in BRCA carriers.
- Findings remained consistent after adjusting for factors like parity and contraceptive use.

## Abstract

The global trend toward delayed childbearing has led to an increased use of fertility treatment, including in vitro fertilization (IVF) and hormonal medications. Concerns regarding the potential impact of these interventions on breast cancer risk, particularly among high-risk women with a pathogenic variant in the BRCA1 or BRCA2 genes remains an important clinical concern.

We conducted a matched case–control analysis of women carrying a pathogenic or likely pathogenic variant in BRCA1 or BRCA2 enrolled in a longitudinal, international study. The analysis included 4,145 women with invasive breast cancer (cases) and 4,145 matched controls without breast cancer. Data on infertility and use of fertility treatments was collected by a research questionnaire. Conditional logistic regression was used to estimate the odds ratios (ORs) and 95% confidence intervals (CIs) for the association between infertility, fertility medications, and IVF, with the risk of breast cancer. Multivariable models were adjusted for parity and oral contraceptive use.

Among the 8,290 participants, 12% reported a history of infertility, 5% had used fertility medication, and 1% had undergone IVF. There was no statistically significant association between a history of infertility (OR = 0.96; 95% CI 0.84–1.10), use of any type of fertility medication (OR = 1.10; 95% CI 0.90–1.34), or IVF specifically (OR = 1.15; 95% CI 0.76–1.73) and the risk of BRCA-breast cancer. Findings were similar in the adjusted analyses.

Findings from this large, international study found no evidence for an association between infertility or fertility treatment and the risk of breast cancer among BRCA1 or BRCA2 carriers. Although based on low rates of exposure, these findings provide some reassurance to BRCA carriers considering fertility treatment. Future studies evaluating impact of contemporary protocols are needed.

## Linked entities

- **Genes:** BRCA1 (BRCA1 DNA repair associated) [NCBI Gene 672], BRCA2 (BRCA2 DNA repair associated) [NCBI Gene 675]
- **Diseases:** breast cancer (MONDO:0004989)

## Full-text entities

- **Genes:** BRCA2 (BRCA2 DNA repair associated) [NCBI Gene 675] {aka BRCC2, BROVCA2, FACD, FAD, FAD1, FANCD}, BRCA1 (BRCA1 DNA repair associated) [NCBI Gene 672] {aka BRCAI, BRCC1, BROVCA1, FANCS, IRIS, PNCA4}
- **Diseases:** infertility (MESH:D007246), delayed childbearing (MESH:D006968), breast cancer (MESH:D001943)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## References

1 references — full list in the complete paper: https://tomesphere.com/paper/PMC12604272/full.md

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Source: https://tomesphere.com/paper/PMC12604272