Background Next-generation sequencing of cancer predisposition genes is routinely used in hereditary cancer diagnostics.

Correspondence to Professor Anna Tylki-Szymańska at Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, Warsaw 04-730, Poland; ...

Breast cancer risk after ovarian cancer in germline BRCA1/2 heterozygotes remains uncertain, with a recent large multicentre international study reporting lower-than-expected incidence in the first ...

1 Department of Medical and Surgical Sciences for Children and Adults, Center for Rare Lung Diseases, University of Modena and Reggio Emilia, Modena, Italy 2 Respiratory Medicine Unit, Department of ...

Institut für Humangenetik und Anthropologie, University of Freiburg, Germany. Mandibular prognathism is assumed to be a polygenic trait in the vast majority of cases. In a few families, this phenotype ...

Exploring the clinical and mutational spectrum of MORC2-associated disorders ...

Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan Background: PRF1 gene mutations are associated with familial haemophagocytic lymphohistiocytosis type 2 (FHL2).

Correspondence to Dr Qing Liu, Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, 100730, China; drliuqing{at}126.com; Dr Mengyang Wang; ...

Epidemiological data such as birth incidence or population prevalence for rare conditions is difficult to obtain because of the large sample size required in order to obtain a valid estimate (ie based ...

Correspondence to: Professor Moore Institute of Ophthalmology, University College London, 11–43 Bath Street, London EC1V 9EL, UK; tony.moore{at}ucl.ac.uk The inherited macular dystrophies comprise a ...

aServicio de Genética, Fundación Jimenez-Diaz, Av Reyes Catolicos 2, Madrid 28040, Spain, bDepartment of Cellular Biology, Universidad Complutense, Madrid, Spain If you wish to reuse any or all of ...

16 Stollery Children's Hospital, University of Alberta, Edmonton, Alberta, Canada 17 McMaster Children's Hospital, McMaster University, Hamilton, Ontario, Canada 18 Children's Hospital at London ...