What is Fanconi Anemia?
One of the most vital processes in cell replication is DNA repair, where any mistakes made during DNA replication can be fixed. There are different repair pathways for different kinds of errors, including mismatch repair and DNA interstrand crosslink repair.
An unusual genetic condition called Fanconi anemia (FA) is caused by the failure of the DNA interstrand crosslink repair pathway, resulting in genomic instability. Individuals with FA are hundreds to thousands of times more likely to develop several types of squamous cell carcinomas, including oesophageal and head and neck tumors.
Chromosomal Breakage and Cancer
It may seem fairly obvious how failure to repair DNA damage can lead to cancer: high mutation rates disrupt normal cellular function and can lead to dysregulated proliferation, a hallmark of tumorigenesis. However, a recent paper in Nature showed that the genomic signature of DNA damage in individuals with FA is the accumulation of structural variants, rather than the point mutations caused by high mutation rates.
From this information, the authors wanted to determine if there was a relationship between the genomic signature of FA-related squamous cell carcinomas and the genomic signature of sporadic head-and-neck squamous cell carcinomas (HNSCCs) caused by tobacco and alcohol use or HPV infection rather than inherited disease. They found that most likely, the pathway that is damaged in FA is the same pathway that gets overwhelmed by damage from alcohol, tobacco, or HPV in sporadic HNSCCs. This makes FA squamous cell carcinoma a very powerful model for studying the molecular mechanisms of sporadic HNSCCs in vitro.
Outsourcing Bioinformatics Analysis: How We Can Help
Exploring the genomic basis of the disease is a new frontier in cancer biology and beyond, and our clients are at the forefront of tackling these research questions with sophisticated bioinformatics approaches. However, transforming raw genomic sequence data into actionable biological insights is no small feat. As experts across data types from cutting-edge sequencing platforms, we can help you tackle the challenging computational tasks of storing, analyzing, and interpreting genomic data. Bridge Informatics’ bioinformaticians are trained bench biologists, so they understand the biological questions driving your computational analysis. Click here to schedule a free introductory call with a member of our team.
Jane Cook, Biochemist & Content Writer, Bridge Informatics
Jane Cook, the leading Content Writer for Bridge Informatics, has written over 100 articles on the latest topics and trends for the bioinformatics community. Jane’s broad and deep interdisciplinary molecular biology experience spans developing biochemistry assays to genomics. Prior to joining Bridge, Jane held research assistant roles in biochemistry research labs across a variety of therapeutic areas. While obtaining her B.A. in Biochemistry from Trinity College in Dublin, Ireland, Jane also studied journalism at New York University’s Arthur L. Carter Journalism Institute. As a native Texan, she embraces any challenge that comes her way. Jane hails from Dallas but returns to Ireland any and every chance she gets. If you’re interested in reaching out, please email [email protected] or [email protected].