Project details


Characteristics of breast and ovarian cancer in women with a PALB2-mutation

oncological epidemiology PALB2 mutation clinical genetics

Prof. dr. G.H. de Bock
I.A.S. Stroot

Type of project:
Pilot project (year 2 or 3) of Stage Wetenschap / Researchproject

Nature of the research:
Analysis of characteristics of breast and ovarian cancers diagnosed in women carrying a PALB2 mutation

Fields of study:
epidemiology genetics

Background / introduction
Next to the highly penetrant BRCA1/2 genes, there are other genes which cause an increased risk of breast and ovarian cancer. One of those genes is PALB2. In 2007, it was discovered that this gene works together with the BRCA1 and BRCA2 gene and that women with a PALB2-mutation have an increased risk for breast cancer, together with a slightly increased risk of ovarian cancer. However, little is known about the characteristics of these breast and ovarian cancers in women carrying a PALB2 mutation, as well as how these tumours behave.
Research question / problem definition
In this study we want to investigate what the characteristics are of breast and ovarian cancers diagnosed in women with a PALB2-mutation. We want to focus on the age these cancers are diagnosed, in which stage and how these tumours react to treatment.
This project will mainly consist of investigating files of PALB2 mutations carriers with breast and/or ovarian cancer. These women were all diagnosed and treated in the UMCG. The data will eventually be analysed descriptively. Supervision will be provided by an oncologic-epidemiologist and a clinical geneticist, possibly togehter with a oncologic-surgeon and gynaecologist-oncologist. Next to this project, there are many opportunities to gain experience in the clinical setting. Moreover, there are possibilities to develop a future research project, with prospects of a MD/PhD-project.
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