2014-09-03
Breast Cancer Risk-reducing Strategies in BRCA1/2 Mutation Carriers
Publication
Publication
Borstkanker risico-reducerende strategieën in BRCA1/2 mutatiedraagsters
__Abstract__ Breast cancer (BC) is the most common type of cancer in women in developed countries. Currently, approximately 14,000 women are diagnosed with BC every year in the Netherlands. One out of eight Dutch women (12%-13%) will develop BC during their life, and 3% to 4% of all Dutch women will die from BC. A genetic predisposition may be responsible for about 5% to 10% of all BC cases. Approximately 25% of these cases can be attributed to a mutation in one of the BReast CAancer (BRCA) genes, BRCA1 and BRCA2. Both genes act as tumour suppressor genes and are involved in important cell functions, including cell cycle control, gene expression regulation, and DNA repair mechanisms. Cells with deficiencies in genes involved in DNA repair are unable to repair DNA double-strand breaks, resulting in genomic instability and a predisposition to malignant transformation. BRCA1/2 mutation carriers have an increased risk of developing a first BC, estimated to range from 45% to 88% by the age of 70.8-13 The estimated cumulative lifetime risk of developing contralateral BC is 65-87% for BRCA1 mutation carriers, and 52-62% for BRCA2 mutation carriers. Adjuvant treatment with Tamoxifen after unilateral BC may reduce the contralateral BC risk with approximately 50%. The risk of developing a contralateral BC may also depend on age at first BC diagnosis and adjuvant treatment with chemotherapy.
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| , , , , , | |
| J. Verweij (Jaap) | |
| Erasmus University Rotterdam | |
| The financial support for printing of this thesis by Woon-Care B.V., Numansdorp and by Goos Communicatiemakers, Ouderkerk aan den IJssel, is gratefully acknowledged. The studies described in this thesis were supported by grants from the Dutch Pink Ribbon Foundation, the Dutch A Sister’s Hope Inc. and the Dutch Cancer Society. The studies were carried out at the Department of Medical Oncology, Erasmus MC Cancer Institute, Rotterdam, in collaboration with the Departments of Surgical Oncology, Gynecology, Radiology, Clinical Genetics, and Pathology of the Erasmus MC Cancer Institute, Rotterdam, and in collaboration with the Netherlands Cancer Institute, Amsterdam, the VU MC, Amsterdam, the Academic MC, Amsterdam, the University MC Groningen, the Leiden University MC, the Foundation for Detection of Hereditary Tumours, Leiden, the University MC Maastricht and the Radboud University Nijmegen MC, the University MC Utrecht. | |
| hdl.handle.net/1765/76029 | |
| Organisation | Erasmus MC: University Medical Center Rotterdam |
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Heemskerk-Gerritsen, B. (2014, September 3). Breast Cancer Risk-reducing Strategies in BRCA1/2 Mutation Carriers. Retrieved from http://hdl.handle.net/1765/76029 |
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| Additional Files | |
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| 4026_Heemskerk-Gerritsen-Bernadette-Anna-Maria.jpg Cover Image , 17kb | |
| Stellingen-Heemskerk-Gerritsen.pdf , 500kb | |
