Background The NHS Jewish BRCA Testing Programme is offering germline BRCA1 and BRCA2 genetic testing to people with ≥1 Jewish grandparent. Who have an increased likelihood of having an Ashkenazi ...
Background Penetrance of breast cancer (BC) among women who carry pathogenic variants (PVs) in BRCA1 is incomplete, and the age at BC diagnosis varies considerably, even among carriers of the same PV, ...
DICER1-related tumour predisposition (DRTP) is an autosomal dominant disorder marked by increased risk of benign and malignant tumours across multiple organ systems. A genetic diagnosis of DRTP ...
1 Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands 2 Department of Pathology, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands 3 ...
INTRODUCTION AND METHODS Since the concept of the “two hit hypothesis” was introduced over 20 years ago, a wealth of genetic data has accumulated on the mutations found at tumour suppressor loci.
Expanded carrier screening in a Southwestern Chinese population indicates East Asian specific low-frequency pathogenic variants account for nearly half of the at-risk couple rate ...
Correspondence to Dr Volker M Lauschke, Department of Physiology and Pharmacology, Section of Pharmacogenetics, Karolinska Institutet, Stockholm, SE-171, Sweden; volker.lauschke{at}ki.se Background ...
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Correspondence to Dr Philippe Debeer, Centre for Human Genetics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium; philippe.debeer{at}uzleuven.be Methods and results Five unique, ...
1 Department of Plastic and Reconstructive Surgery, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands 2 Research Unit of the Department of Plastic and ...
Correspondence to Dr Pei-Lan Zhang, Department of Neurology, Tianjin Huanhu Hospital, Jinnanqu, Tianjin 300350, P.R. China; peilanzhng{at}sina.com and Dr Pedro Fernandez-Funez, Department of ...
Background Pure partial trisomy of 1q42 to 1q44 (terminal end) is an extremely rare chromosomal abnormality reported in only 5 patients to date. We present one additional case with the breakpoints ...
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