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Several factors can increase the risk of cancer in an individual. About 50% of cancer cases can be prevented by adopting a healthy lifestyle, regular exercise, eating healthy, and following a modest cancer prevention diet. Epidemiological studies have consistently shown that populations with vegetable and fruit-rich diets have reduced the incidence of cancer. On the other hand, populations who have a diet rich in animal fat, red meat, junk food, or high calories are predisposed to cancer.
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Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
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Human Genetics01:28

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
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[Genetic predisposition to breast cancer].

D Stoppa-Lyonnet1, C Colas2

  • 1Service de génétique, institut Curie, 26, rue d'Ulm, 75005 Paris, France; Unité Inserm U1339, institut Curie, 26, rue d'Ulm, 75005 Paris, France; Université Paris Cité, 45, rue des Saints-Pères, 75006 Paris, France.

Annales De Chirurgie Plastique Et Esthetique
|November 13, 2025
PubMed
Summary

Breast cancer genetic testing has advanced significantly, identifying more genes and tumor alterations. Challenges remain in gene discovery, variant classification, and multifactorial risk modeling for personalized prevention.

Keywords:
BRCABreast cancerCancer du seinGenesGeneticsGènesGénétiqueMutation

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Area of Science:

  • Oncology
  • Genetics
  • Medical Diagnostics

Background:

  • Breast cancer genetic testing has evolved over 30 years since BRCA1/2 identification.
  • Ultra-high-throughput sequencing now analyzes eight predisposition genes.
  • Tumor BRCA1/2 alterations increasingly guide testing, with 75% being constitutional.

Purpose of the Study:

  • To review the evolution and current state of breast cancer predisposition testing.
  • To highlight ongoing challenges and future directions in oncogenetics.
  • To emphasize the crucial role of patients and families in advancing the field.

Main Methods:

  • Review of advancements in genetic sequencing technologies.
  • Analysis of expanding indications for genetic testing.
  • Discussion of challenges in gene discovery, variant interpretation, and risk modeling.

Main Results:

  • Expansion of genetic testing to include multiple predisposition genes.
  • Emerging role of tumor genetic alterations in identifying constitutional mutations.
  • Identification of key challenges: new gene validation, novel inactivation modes, variant classification, and multifactorial risk.

Conclusions:

  • Despite progress, significant challenges persist in breast cancer genetic testing and risk assessment.
  • Continued research is needed for new gene identification, variant interpretation, and personalized risk models.
  • Patient and family involvement is vital for improving oncogenetic testing, support, and protection.