# From Genomics to AI: Revolutionizing Precision Medicine in Oncology
## 3 Genomics in Cancer Risk Assessment  
Genomics plays a crucial role in cancer risk assessment, particularly for individuals with inherited predispositions to malignancies. Genetic testing enables the identification of germline variants associated with hereditary cancer syndromes, providing valuable information for early intervention and personalized risk management. Among the most well-known hereditary cancer syndromes are those linked to variants in genes, such as _BRCA1_ and _BRCA2_, which predispose individuals to breast, ovarian, and other cancers [25]. This predominance is largely attributed to the hormone-sensitive nature and high proliferative rates of breast and ovarian tissues, which make them particularly vulnerable to the impaired DNA repair mechanisms caused by BRCA mutations [26]. The identification of founder mutations in populations with shared ancestry, such as the Ashkenazi Jewish community, has facilitated targeted genetic screening and early detection efforts. Founder mutations in _BRCA1_ (185 delAG, 5382 insC) and _BRCA2_ (6174 delT) are particularly well-characterized and have allowed for cost-effective screening programs in high-risk populations [17]. These genetic variants significantly impact an individual's lifetime cancer risk and have led to the development of preventive strategies, such as enhanced surveillance, chemoprevention, and risk-reducing surgeries. Another notable hereditary cancer syndrome is Lynch syndrome (LS), an autosomal dominant condition caused by mutations in DNA mismatch repair (dMMR) genes, such as _MLH1_, _MSH2_, _MSH6_, and _PMS2_[27]. Mismatch repair (MMR) is a cellular mechanism responsible for identifying and correcting base-pair mismatches and small insertion/deletion loops that arise during DNA replication. Defects in MMR lead to microsatellite instability and an increased mutation rate, which contribute to cancer development [28]. Lynch syn \begin{table}
\begin{tabular}{c c c c} \hline \hline
**Technology** & **Description** & **Strengths** & **Limitations** \\ \hline Targeted Gene Panels & \begin{tabular}{c} Sequencing of predefined sets \\ of clinically relevant genes \\ \end{tabular} & \begin{tabular}{c} Fast, cost-effective, clinically \\ actionable \\ Broad coverage; suited for \\ rare or unknown mutations \\ Comprehensive; includes \\ regions \\ coding and non-coding \\ regions \\ regions \\ \end{tabular} & \begin{tabular}{c} Limited scope; cannot detect \\ novel or unexpected variants \\ Variable coverage; excludes \\ non-coding regions \\ High cost; complex data \\ interpretation \\ \end{tabular} \\ Array CGH/SNP Arrays & \begin{tabular}{c} Detection of copy number \\ variations and loss of \\ heterozygosity (LOH) \\ \end{tabular} & \begin{tabular}{c} Effective for CNV analysis \\ and chromosomal alterations \\ \end{tabular} & \begin{tabular}{c} Cannot detect single \\ nucleotide variants \\ \end{tabular} \\ Feulgen–Thionin Staining & \begin{tabular}{c} Cytochemical method for \\ DNA quantification in tissue \\ sections \\ \end{tabular} & \
\begin{tabular}{c} Useful in specific \\ histopathologic settings \\ \end{tabular} &
\begin{tabular}{c} Not a molecular technique; \\ limited integration with NGS \\ data \\ \end{tabular} \\ \hline \hline \end{tabular}
\end{table} 
Table 1: Genomic technologies used in cancer diagnosis and risk assessment. Summary of major genomic platforms employed in oncology, including targeted gene panels, next-generation sequencing approaches, and advanced diagnostic tools. Each technology is described in terms of its applications, advantages, and limitations within the clinical context. drome accounts for approximately 3% of unselected patients with colorectal or endometrial cancer and 10-15% of those with DNA mismatch repair-deficient tumors [19]. In addition to colorectal and endometrial cancers, individuals with [PERSON] syndrome are at increased risk for other cancers, including those of the ovary, stomach, and small intestine [27; 29].