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The Role of Genetics in Breast Cancer: Exploring Hereditary Factors

Writer's picture: Surviving Breast CancerSurviving Breast Cancer

Breast cancer is a complex disease influenced by various factors, including genetics. Understanding the role of hereditary factors and genetic mutations is crucial in comprehending the predisposition, risk assessment, and management of breast cancer.

Introduction: Unraveling the Genetic Puzzle


Genetics play a significant role in approximately 5-10% of breast cancer cases. Hereditary breast cancer stems from inherited gene mutations passed down through generations, increasing the risk of developing breast cancer.

Hereditary Breast Cancer Genes

BRCA1 and BRCA2:

  • BRCA1 and BRCA2 genes are the most extensively studied and commonly known breast cancer susceptibility genes.

  • Carrying mutations in these genes significantly increases the risk of breast and ovarian cancers, among others.


Other Genes:

  • Besides BRCA1/2, mutations in genes like TP53 (Li-Fraumeni syndrome), PTEN (Cowden syndrome), and PALB2 (partner and localizer of BRCA2) are associated with increased breast cancer risk.


Inheritance Patterns

Autosomal Dominant Inheritance:

  • Inheriting one mutated copy of the gene from either parent increases the risk of breast cancer.

  • Offspring have a 50% chance of inheriting the mutated gene.


Penetrance and Variability:

  • Penetrance refers to the likelihood of developing cancer with a specific gene mutation.

  • Variable expressivity leads to varying cancer types and ages of onset among carriers.


Hereditary Breast and Ovarian Cancer Syndrome (HBOC)