Publications by authors named "K Marcelain"
Latin Americans have a rich genetic make-up that translates into heterogeneous fractions of the autosomal genome in runs of homozygosity (F) and heterogeneous types and proportions of indigenous American ancestry. While autozygosity has been linked to several human diseases, very little is known about the relationship between inbreeding, genetic ancestry, and cancer risk in Latin Americans. Chile has one of the highest incidences of gallbladder cancer (GBC) in the world, and we investigated the association between inbreeding, GBC, gallstone disease (GSD), and body mass index (BMI) in 4029 genetically admixed Chileans.
View Article and Find Full Text PDFIntroduction: Chile has achieved developed nation status and boasts a life expectancy of 81 + years; however, the healthcare and research systems are unprepared for the social and economic burden of cancer. One decade ago, the authors put forward a comprehensive analysis of cancer infrastructure, together with a series of suggestions on research orientated political policy.
Objectives: Provide an update and comment on policy, infrastructure, gender equality, stakeholder participation and new challenges in national oncology.
Article Synopsis
- Cancers of unknown primary (CUP) are aggressive cancers where the origin remains unidentified, making treatment difficult and leading to poor outcomes.
- Advances in large-scale sequencing and machine learning have opened up new pathways for diagnosing CUP by identifying specific genetic signatures, even from blood samples.
- The review discusses the strengths and weaknesses of machine learning in classifying CUP tumors, emphasizing the need for improved strategies that integrate diverse data types to enhance diagnostic accuracy in clinical settings.
Article Synopsis
- Tobacco use is a major risk factor for lung cancer, but 10-20% of lung cancer patients are never-smokers, with distinct clinical and genomic differences observed between smokers and never-smokers, especially in Chile.
- This study examines genomic alterations in lung cancer between smokers and never-smokers, focusing on 10 relevant genes, revealing a higher overall frequency of genetic alterations in never-smokers (58%) compared to smokers (45.7%).
- Key findings include that never-smokers tend to have higher alterations in genes like EGFR and PIK3CA, while smokers showcase a more complex genomic profile, particularly with KRAS mutations.
Cancer will remain one of the most significant challenges for public health, locally and globally. Currently, cancer is the leading cause of death in our country. Thanks to the enormous knowledge accumulated in recent decades on the cellular and molecular bases of cancer, precision oncology has been developed, an approach that allows for increasingly precise pharmacological treatment based on diagnostic tests.
View Article and Find Full Text PDF