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Hereditary Breast Cancer: Comprehensive Risk Assessment and Prevention Strategies
Eliza Del Fiol Manna, Davide Serrano, Laura Cazzaniga, Sara Mannucci, Cristina Zanzottera, Francesca Fava, Gaetano Aurilio, Aliana Guerrieri‐Gonzaga et al.. Genes, 2025-01-13
Topic: Risk, prevention and care in population studies
Women carrying pathogenic/likely pathogenic (P/LP) variants in moderate- or high-penetrance genes have an increased risk of developing breast cancer. However, most P/LP variants associated with breast cancer risk show incomplete penetrance. Age, gender, family history, polygenic risk, lifestyle, reproductive, hormonal, and environmental factors can affect the expressivity and penetrance of the disease. However, there are gaps in translating how individual genomic variation affects phenotypic presentation. The expansion of criteria for genetic testing and the increasing utilization of comprehensive genetic panels may enhance the identification of individuals carrying P/LP variants linked to hereditary breast cancer. Individualized risk assessment could facilitate the implementation of personalized risk-reduction strategies for these individuals. Preventive interventions encompass lifestyle modifications, chemoprevention, enhanced surveillance through breast imaging, and risk-reducing surgeries. This review addresses the current literature's inconsistencies and limitations, particularly regarding risk factors and the intensity of preventive strategies for women with P/LP variants in moderate- and high-penetrance genes. In addition, it synthesizes the latest evidence on risk assessment and primary and secondary prevention in women at high risk of breast cancer.
Key findings
- Women carrying pathogenic/likely pathogenic (P/LP) variants in moderate- or high-penetrance genes have an increased risk of developing breast cancer.
- However, most P/LP variants associated with breast cancer risk show incomplete penetrance.
Why it matters
This review is about hereditary breast cancer risk assessment and prevention, not Alzheimer's disease, so it provides no information on Alzheimer's treatment, cure or prevention. It discusses risk-reducing options such as lifestyle changes, chemoprevention, enhanced surveillance and risk-reducing surgery for women with certain gene variants.
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Study details
- Evidence strengthLow
How this study scored 39/100
Published in a peer-reviewed journal. Scored zero for study design, sample size, effect reported, studied in people and randomised / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Genes) |
| Journal's citation record | 1 / 4 | Genes: journal h-index 143 (OpenAlex, 2026-10-29) |
| Study design | 0 / 12 | No study design recorded — scores zero, not guessed (not stated in the record — scored 0) |
| Strength of evidence | 1 / 5 | Rated “low” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 4 / 5 | 2025 — within 3 year(s) of the newest study here |
| Sample size | 0 / 4 | Participant count not stated — scores zero (not stated in the record — scored 0) |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 0 / 3 | Not stated whether this was studied in people — scores zero (not stated in the record — scored 0) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 2 / 7 | Cited 12 times (OpenAlex, 2026-10-10) |
| Citations per year | 2 / 5 | 4.0 citations a year over 3 year(s) since 2025 |
| Impact for its field and year | 3 / 6 | Cited 6.6× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 0 / 6 | No other study in this library cites it |
| Still being cited | 1 / 4 | Cited 12 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 2 / 4 | Last-listed author Matteo Lazzeroni: h-index 27 (OpenAlex, whole career) |
| Institution's track record | 1 / 3 | University of Milan: institution h-index 1,023 (OpenAlex) |
| Multi-centre collaboration | 1 / 3 | OpenAlex lists 3 institution(s) in 2 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 39858629) |
| Free to read | 2 / 2 | Free to read |
| Total | 39 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
Built from the record alzhub holds for this paper, not looked up. Volume, issue and page numbers are not held in the record. The record's author list ends in “et al.”, so not every author is named. Check the citation against the original before you use it.
APA 7th
Manna, E. D. F., Serrano, D., Cazzaniga, L., Mannucci, S., Zanzottera, C., Fava, F., et al. (2025). Hereditary Breast Cancer: Comprehensive Risk Assessment and Prevention Strategies. Genes. https://doi.org/10.3390/genes16010082
Vancouver
Manna EDF, Serrano D, Cazzaniga L, Mannucci S, Zanzottera C, Fava F, et al. Hereditary Breast Cancer: Comprehensive Risk Assessment and Prevention Strategies. Genes. 2025. doi:10.3390/genes16010082. PMID: 39858629.
BibTeX
@article{manna2025-39858629,
author = {Manna, Eliza Del Fiol and Serrano, Davide and Cazzaniga, Laura and Mannucci, Sara and Zanzottera, Cristina and Fava, Francesca and Aurilio, Gaetano and Guerrieri‐Gonzaga, Aliana and others},
title = {{Hereditary Breast Cancer: Comprehensive Risk Assessment and Prevention Strategies}},
journal = {Genes},
year = {2025},
doi = {10.3390/genes16010082},
pmid = {39858629},
url = {https://doi.org/10.3390/genes16010082}
}
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