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Dissecting the genetic basis of familial multiple myeloma

Pertesi, Maroulio (2021) BINP51 20202
Degree Projects in Bioinformatics
Popular Abstract
Exploring the genetic basis of familial multiple myeloma

Multiple myeloma (MM) is one of the most common forms of blood cancer. The disease is characterized by uncontrolled growth of plasma cells in the bone marrow, leading to bone marrow failure, kidney failure, bone lesions and death.

Several studies have shown that some families are at an increased risk of developing MM, monoclonal gammopathy of unknown significance (MGUS) as well as certain other types of cancers. Although there is growing evidence that DNA changes are responsible for this increase in risk, the genetic mechanisms are not fully understood yet.

The main aim of this project was to better understand the genetic basis of MM by identifying inherited changes in genes... (More)
Exploring the genetic basis of familial multiple myeloma

Multiple myeloma (MM) is one of the most common forms of blood cancer. The disease is characterized by uncontrolled growth of plasma cells in the bone marrow, leading to bone marrow failure, kidney failure, bone lesions and death.

Several studies have shown that some families are at an increased risk of developing MM, monoclonal gammopathy of unknown significance (MGUS) as well as certain other types of cancers. Although there is growing evidence that DNA changes are responsible for this increase in risk, the genetic mechanisms are not fully understood yet.

The main aim of this project was to better understand the genetic basis of MM by identifying inherited changes in genes that increase the risk of developing this cancer. We analysed DNA changes in MM patients that either have a family history of MM or developed MM at a relatively young age (<50years), identified through national cancer registries, using advanced genetic methods. We put together an analysis workflow to enable the identification of DNA changes and collect evidence that could link the genes in which these changes were detected with MM. Although additional samples need to be analyzed to confirm our results, we identified an interesting potential candidate gene with a role in the immune system.

Understanding the effects of genetic changes is important to understand how a disease develops. We expect that our results will lead to a better understanding of how MM occurs, and it can potentially set the stage for disease prevention (counselling, monitoring) as well as early treatment of individuals at risk.


Master’s Degree Project in Bioinformatics, 45 credits, 2021
Department of Biology, Lund University

Advisor:
Abhishek Niroula, PhD

Hematology and Transfusion Medicine, Department of Laboratory Medicine, Lund University
Broad Institute of MIT and Harvard, Cambridge, MA (Less)
Please use this url to cite or link to this publication:
author
Pertesi, Maroulio
supervisor
organization
course
BINP51 20202
year
type
H2 - Master's Degree (Two Years)
subject
language
English
id
9061234
date added to LUP
2021-07-07 15:16:52
date last changed
2021-07-07 15:16:52
@misc{9061234,
  author       = {{Pertesi, Maroulio}},
  language     = {{eng}},
  note         = {{Student Paper}},
  title        = {{Dissecting the genetic basis of familial multiple myeloma}},
  year         = {{2021}},
}