The Jackson Laboratory
Exploring Hereditary Cancer on cBioPortal
Pages
6
Time to read
6 mins
Publication
Language
English
Pages
6
Time to read
6 mins
Publication
Language
English
This document is a guide focused on exploring hereditary cancer, specifically through the lens of a case study involving Dr. Myra Ortiz, an oncologist specializing in melanoma. The guide begins with an introduction to Dr. Ortiz's patient, Monica, who is identified as having a variant in the CDKN2A gene, which is linked to an increased risk for hereditary melanoma. The guide outlines the importance of understanding genetic variants in cancer diagnoses, particularly in younger patients. It includes activities that prompt users to analyze cancer diagnosis data from the National Cancer Institute’s SEER database and the cBioPortal, emphasizing the age-related trends in cancer diagnosis. The guide encourages users to investigate the characteristics of patients with CDKN2A mutations and to consider factors influencing the age of diagnosis for melanoma. Additionally, it provides resources for further exploration of the cBioPortal and related educational materials.