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; ...

Background Pathogenicity predictors are integral to genomic variant interpretation but, despite their widespread usage, an independent validation of performance using a clinically relevant dataset has ...

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 ...

Division of Biomedical Sciences, University of California Riverside, California, USA Dr D Ethell, Biomedical Sciences, University of California, 900 University Ave, Riverside, CA 92521-0121, USA; doug ...

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 ...

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

Background Since 2020, the UK National Institute for Health and Care Excellence (NICE) recommends screening for Lynch syndrome in all people newly diagnosed with endometrial cancer. Screening involves ...

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 ...

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; ...

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 ...