MUTYH (MutY homolog)

NGS analysis of the tumor tissue revealed a pathogenic BRCA2 variant (c.1813delA, p.Ile605TyrTer9), which provides a potential target for personalized therapy. This case report highlights the co-segregation of a rare pathogenic MSH2 variant in a Tunisian family and underscores its clinical implications for improving the management and surveillance of patients with Lynch syndrome.

Our study represents one of the largest cohorts of HCC and cHCC-CCA patients with genomic data and highlights the critical role of integrated molecular diagnostics. Beyond uncovering therapeutic targets, next-generation sequencing profiling offers significant benefits in improving diagnostic accuracy for liver cancer.

Genetic testing should be considered for all cancer patients in Uruguay, regardless of ancestry or tumor type. Further research is needed to better understand the role of less-characterized genes in BC, OvC, and PCa predisposition.

Our study queries one of the largest datasets of GI- and P-NENs to date and highlights distinct age- and sex-specific molecular and immune profiles. Given the exploratory nature of these analyses and borderline significance, these results remain hypothesis-generating, providing an initial framework for future validation studies.

This is the first MINAS-focused analysis from a Turkish cohort. Although uncommon, MINAS represents a significant subset of genetically high-risk individuals requiring tailored clinical management.

IDC-P possesses a distinct molecular and immunological profile. Understanding these molecular underpinnings is crucial for the development of personalized treatment strategies for histologically distinct prostate cancer subsets.

We engaged target users of an educational app in an iterative app design process to create a product that would meet the needs and expectations of those users. Results suggested that the app was generally viewed as acceptable, useful, and visually appealing. Common suggestions for improvement, such as reformatting quizzes to enhance interactivity and provide feedback regarding correct answers, were used to refine the app. The refined app will be used in the future intervention efficacy trial.

Similar distribution of P/LP potential germline alterations in lung cancer subtypes from distinct populations by smoking status suggests increased next-generation germline sequencing may improve risk assessment.

More mastectomies, also contralateral, were performed in gPV than in non-carriers. Finally, 64% gPV achieved pCR compared to 39% non-carriers (p < 0.001), although no differences were observed between the two groups in IBCFS or OS.

Compared with non-carriers, MAP patients had an earlier CRC onset (49 vs. 59 years, p = 0.008), a higher prevalence of polyps (OR = 5.26; CI 95% 1.49-18.59; p = 0.036) and a family history of cancers (84.6% vs. 48.9%, p = 0.014), but fewer occurrences of metastasis (30.7% vs. 68.3%, p = 0.006) and stage IV tumors (30.8% vs. 68.3%, p = 0.029). Notably, most MAP cases (11/15) were not previously diagnosed, demonstrating that the strong association between KRAS-G12C mutations and the presence of MUTYH GPVs supports its use as a biomarker for referring patients to germline MUTYH testing, enabling appropriate follow-up, surveillance and preventive strategies for individuals at risk.

Blood samples were collected, and gene polymorphisms were identified using PCR-RFLP technique. Our study results revealed a statistically significant association between gene polymorphisms OGG1-Ser326Cys (p = 0.008), XRCC1-Arg194Trp (p = 0.009), XRCC1-Arg399Gln (p < 0.001), APEX1-Asp148Glu (p < 0.001) and the occurrence of leukoplakia, OSMF and OSCC.