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Integrative analysis of the copy number landscape in breast cancer

Klarqvist, Marcus (2014) MOBM01 20141
Degree Projects in Molecular Biology
Popular Abstract
Breast cancer is one of the most common cancer types with almost 1,700,000 cases and greater than 500,000 deaths each year worldwide. This represents approximately one new case and one death every 20 and 60 seconds, respectively. Breast cancer has garnered considerable scientific attention because of the high incidence. Traditionally, patients are classified into three distinct clinical subtypes depending on the relative abundance of different proteins or if there are an incorrect number of copies of a particular region in the genetic material. First, the oestrogen receptor (ER) positive group is the most numerous and has the protein ESR1 available for targeting and therefore generally responds well to endocrine-deprivation therapy. The... (More)
Breast cancer is one of the most common cancer types with almost 1,700,000 cases and greater than 500,000 deaths each year worldwide. This represents approximately one new case and one death every 20 and 60 seconds, respectively. Breast cancer has garnered considerable scientific attention because of the high incidence. Traditionally, patients are classified into three distinct clinical subtypes depending on the relative abundance of different proteins or if there are an incorrect number of copies of a particular region in the genetic material. First, the oestrogen receptor (ER) positive group is the most numerous and has the protein ESR1 available for targeting and therefore generally responds well to endocrine-deprivation therapy. The HER2 (also known as ERBB2) positive subtype represent less than one-fifth of patients and have too many copies of the gene called HER2 positioned on chromosome 17. This patient population represents a great clinical success because of effective targeted therapies against the protein product of this region. Lastly, the so-called triple-negative subtype does not express either the proteins ESR1 nor the progesterone receptor (PR) and do not have too many copies of the HER2 gene. Because of this, there are currently no targeted therapies for patients with this subtype and therefore chemotherapy is the only option. In the present study, we search for additional regions with aberrant number of copies in the genetic material or transcripts of messenger RNA (mRNA) that can further subdivide patients into clinically relevant subtypes. To this end, we analyzed both the mRNA and genetic material (DNA) from the tumours of almost 4,000 women. We highlight several novel alterations in the genetic material of these women and further validate these findings in independent datasets. (Less)
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author
Klarqvist, Marcus
supervisor
organization
course
MOBM01 20141
year
type
H2 - Master's Degree (Two Years)
subject
language
English
id
4580917
date added to LUP
2014-07-31 10:24:02
date last changed
2014-07-31 10:24:02
@misc{4580917,
  author       = {{Klarqvist, Marcus}},
  language     = {{eng}},
  note         = {{Student Paper}},
  title        = {{Integrative analysis of the copy number landscape in breast cancer}},
  year         = {{2014}},
}