Evidence map›Paper›PMID 39858629›Full record

ReviewGenes2025

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, Matilde Risti, Mariarosaria Calvello and 6 more

Abstract readReview
In one paragraph

Review in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

15 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Review
  8. Review
  9. Review
  10. Article
  11. Review
  12. Article
  13. Article
  14. Article
  15. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

16 authors.

Eliza Del Fiol MannaDivision of Oncogenetics, Unimed Sorocaba, Sorocaba 18040-580, Brazil.ORCID 0000-0002-0090-091X
Davide SerranoDivision of Cancer Prevention and Genetics, IEO European Institute of Oncology IRCCS, 20141 Milan, Italy.ORCID 0000-0002-2945-4108
Laura CazzanigaDivision of Cancer Prevention and Genetics, IEO European Institute of Oncology IRCCS, 20141 Milan, Italy.ORCID 0000-0002-0375-2852
Sara MannucciDivision of Cancer Prevention and Genetics, IEO European Institute of Oncology IRCCS, 20141 Milan, Italy.
Cristina ZanzotteraDivision of Cancer Prevention and Genetics, IEO European Institute of Oncology IRCCS, 20141 Milan, Italy.
Francesca FavaDivision of Cancer Prevention and Genetics, IEO European Institute of Oncology IRCCS, 20141 Milan, Italy.
Gaetano AurilioDivision of Cancer Prevention and Genetics, IEO European Institute of Oncology IRCCS, 20141 Milan, Italy.
Aliana Guerrieri-GonzagaDivision of Cancer Prevention and Genetics, IEO European Institute of Oncology IRCCS, 20141 Milan, Italy.ORCID 0000-0003-1915-1688
Matilde RistiDivision of Cancer Prevention and Genetics, IEO European Institute of Oncology IRCCS, 20141 Milan, Italy.ORCID 0000-0002-4841-3109
Mariarosaria CalvelloDivision of Cancer Prevention and Genetics, IEO European Institute of Oncology IRCCS, 20141 Milan, Italy.ORCID 0000-0003-2113-8503
Irene FeroceDivision of Cancer Prevention and Genetics, IEO European Institute of Oncology IRCCS, 20141 Milan, Italy.ORCID 0000-0001-9312-2020
Monica MarabelliDivision of Cancer Prevention and Genetics, IEO European Institute of Oncology IRCCS, 20141 Milan, Italy.
Cecilia AltemuraDivision of Cancer Prevention and Genetics, IEO European Institute of Oncology IRCCS, 20141 Milan, Italy.ORCID 0009-0005-4213-7069
Lucio BertarioDivision of Cancer Prevention and Genetics, IEO European Institute of Oncology IRCCS, 20141 Milan, Italy.ORCID 0000-0001-5653-1431
Bernardo BonanniDivision of Cancer Prevention and Genetics, IEO European Institute of Oncology IRCCS, 20141 Milan, Italy.ORCID 0000-0003-3589-2128
Matteo LazzeroniDivision of Cancer Prevention and Genetics, IEO European Institute of Oncology IRCCS, 20141 Milan, Italy.ORCID 0000-0002-2162-4002

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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.

Indexed as

Breast NeoplasmsGenetic Predisposition to DiseaseFemaleGenetic TestingHumansPenetranceRisk AssessmentRisk Factorshereditary breast cancerpreventionrisk assessment

Identifiers

PMID39858629
PMCPMC11764557

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.