Rob B van der Luijt
Affiliation: University Medical Center
Country: The Netherlands
- De novo recurrent germline mutation of the BRCA2 gene in a patient with early onset breast cancerR B Van der Luijt
Department of Medical Genetics, University Medical Centre Utrecht, KC 04 084 2, PO Box 85090, 3508 AB Utrecht, The Netherlands
J Med Genet 38:102-5. 2001..Our study presents the first case in which a de novo germline mutation in the BRCA2 gene has been identified, and supports previous results of haplotype studies, confirming that the 3034del4 mutation has multiple independent origins...
- A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family historyEncarna B Gomez Garcia
Department of Clinical Genetics, University Hospital Maastricht, Maastricht, The Netherlands
Breast Cancer Res 11:R8. 2009..The aim of the present study was to identify which is the best combination of clinical parameters that can predict whether a UV is deleterious, to be used for the classification of UVs...
- Acromegaly in a multiple endocrine neoplasia type 1 (MEN1) family with low penetrance of the diseaseKoen M A Dreijerink
Department of Endocrinology, University Medical Centre Utrecht, PO Box 85 500, 3508 GA, Utrecht, The Netherlands
Eur J Endocrinol 153:741-6. 2005..One patient (1/3) later developed clinical signs of acromegaly. Possibly, acromegaly in MEN1 is preceded by a transient preacromegalic state...