BASIS (Breast Cancer Somatic Genetics Study)

The BASIS (Breast Cancer Somatic Genetic Study) study focussses on the full
genome sequencing of tumor and normal DNA of 500 breast cancer patients. It is
suggested that malignant tumors develop from somatic genetic mutations
presenting during life. These mutations may alter important functions of
proto-oncogenes. The understanding of the genetic mutations leading to cancer
can make early detection, prevention and effective therapy possible.
The BASIS study is part of the ICGC (International Cancer Genome Consortium)
organization, which is involved in generating catalogues of different cancer
types. BASIS focusses on studying breat cancer subtype ER+ HER2-; this subtype
is the most common type of breast cancer (approximately 40%). Results of the
BASIS study will be catalogued by the ICGC model. In this study 500 tumors will
be analyzed by using shotgun genome sequencing an compared to normal DNA
collected from the same patient. With this technique all deletions, insertions,
copy number changes, translocations and other chromosomal alterations can be
detected. Also full genome DNA methylation analysis will be performed on our
samples; as mRNA and miRNA expression profiling.
All data will be coded and rapidly made available for other researchers. This
broad and complex study together with other ICGC studies gives insights in one
of the most common diseases in the developed world and gives new possibilities
in respect to prevention, early detection and new therapies.

The BASIS study will analyze the full cancer genome of breast cancer subtype
ER+ HER2-.

The development of a catalogue containing genetic information of ER+
HER2-breast cancer is a prospective multicenter study called BASIS. As a part
of the BASIS study, the academic medical center (AMC) is involved in collecting
the samples for analyzing:
- Full genome sequencing of the tumor and normal tissue of the same patient
- Potential cancer genes will be further analyzed by using in situ
hybridization and RT-PCR
- Full genome methylation analysis will be performed
- Finally mRNA and miRNA expression profiling will be done
Collected samples will be coded in the AMC. In future state, only the AMC can
link the coded information to a patient (for example in case of patients
pulling out of the study or the follow-up). After all samples and patient
information is coded by its unique code, it will be send to the Sanger Center.
The Sanger Center will analyze the samples or will further distribute the
samples to other members of the BASIS project.

Physical risk known for vene punction

Privacy and security risk: There is a very low risk that in the end genetic
information of the BASIS project can be linked to other databases containing
genetic/medical information. It is possible although véry unlikely that the
security of a computer containing the database is hacked or damaged. Nó
insurance company, employers or other familymembers have any insights in the
personal medical information of the patient.