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Cancer and Genetics

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Cancer and Genetics

Familial Cancer

Cancer often develops due to errors in critical DNA genes that regulate cell division and structure. In most cases, these errors arise as a result of environmental factors; however, in some families, inherited genetic factors significantly increase the risk of cancer.

• Familial forms of cancer account for approximately 5–10% of all cancer cases.
• The primary cause is a mutation present directly within a gene.
• Individuals at high risk often develop multiple types of cancer at a young age.
• Mutations can be passed from parents to children with a 50% probability, most commonly through autosomal dominant inheritance.

Types of cancer that require special attention include breast, ovarian, cervical, gastric cancer, melanoma, and certain rare cancers. Individuals at high risk require early detection through screening programs and ongoing clinical surveillance.

Genetic Counseling and Risk Assessment

• Family history analysis — evaluation of cancer cases within the family and inherited risk factors.
• Genetic testing — identification of mutations in cancer-associated genes.
• Risk modeling and analysis — assessment of individual risk using biochemical tests and statistical tools.
• Counseling — educating patients and their families on cancer risk reduction and preventive measures.
• Psychological support — evaluation and assistance in addressing potential emotional impacts on the family.

The collected data are used for screening, prevention strategies, and personalized health management.

Next-Generation Sequencing (NGS)

NGS is an advanced technology that enables comprehensive analysis of the entire genome or targeted regions of DNA and RNA.

• Allows rapid and accurate parallel analysis of millions of genomic sequences.
• High-depth sequencing enables detection of even the smallest genetic variations.
• Data are analyzed using bioinformatics tools and integrated with clinical information.

Applications of NGS

• Identification of genetic diseases and assessment of disease risk
• Cancer research and tumor sequencing
• Personalized medicine and individualized treatment planning
• Detection of genetic mutations in complex or rare disorders
• Comprehensive genetic profiling through whole-genome sequencing
• Research in human microbiota and population genetics
• Genetic-based risk assessment and support for personalized decision-making

NGS offers revolutionary opportunities in the detection of genetic disorders, disease prevention, and the development of individualized treatment strategies.