Genetics

Clues to primary vismodegib resistance lie in histology and genetics
Qisi Sun, Lihi Atzmony, Theodore Zaki, Albert Peng, Jeffrey Sugarman, Keith A. Choate

Journal of Clinical Pathology Oct 2020, 73 (10) 678-680; DOI: 10.1136/jclinpath-2020-206448
Gene of the month: IDH1
Cassandra Bruce-Brand, Dhirendra Govender

Journal of Clinical Pathology Oct 2020, 73 (10) 611-615; DOI: 10.1136/jclinpath-2020-206813
Custom pyrosequencing assay to detect short BRAF deletions in Langerhans cell histiocytic lesions
Fanélie Jouenne, Aurélie Sadoux, Gwenaël Lorillon, Baptiste Louveau, Emmanuelle Bugnet, Veronique Meignin, Samia Mourah, Abdellatif Tazi

Journal of Clinical Pathology Sep 2020, jclinpath-2020-206974; DOI: 10.1136/jclinpath-2020-206974
Bayesian approach to interpreting somatic cancer sequencing data: a case in point
Ju-Yoon Yoon, Jason N Rosenbaum, Norge Vergara, Roger B Cohen, Robert B Wilson

Journal of Clinical Pathology Aug 2020, jclinpath-2020-206895; DOI: 10.1136/jclinpath-2020-206895
Gene of the month: GLIS1-3
Karen Pinto, Runjan Chetty

Journal of Clinical Pathology Sep 2020, 73 (9) 527-530; DOI: 10.1136/jclinpath-2020-206859
Integrated characterisation of cancer genes identifies key molecular biomarkers in stomach adenocarcinoma
Haifeng Wang, Liyijing Shen, Yaoqing Li, Jieqing Lv

Journal of Clinical Pathology Sep 2020, 73 (9) 579-586; DOI: 10.1136/jclinpath-2019-206400
An exceptional metaplastic lobular breast carcinoma diagnosed through exome sequencing
Anthony Bergeron, Isabelle Desmoulins, Francoise Beltjens, Sylvain Causeret, Celine Charon-Barra, Etienne Martin, Corentin Richard, Romain Boidot, Laurent Arnould

Journal of Clinical Pathology Sep 2020, 73 (9) 597-601; DOI: 10.1136/jclinpath-2019-205783
Combined use of gap-PCR and next-generation sequencing improves thalassaemia carrier screening among premarital adults in China
Jianghong Zhao, Jia Li, Qiaohong Lai, Yanping Yu

Journal of Clinical Pathology Aug 2020, 73 (8) 488-492; DOI: 10.1136/jclinpath-2019-206339
Dominant β-thalassaemia with unusually high Hb A₂ and Hb F caused by β^CD121(−G) (HBB:c.364delG) in exon 3 of β-globin gene
Kritsada Singha, Rossarin Karnpean, Goonnapa Fucharoen, Supan Fucharoen

Journal of Clinical Pathology Aug 2020, 73 (8) 511-513; DOI: 10.1136/jclinpath-2019-206308
Gene of the month: APOL1
Shanel Raghubeer, Tahir S Pillay, Tandi Edith Matsha

Journal of Clinical Pathology Aug 2020, 73 (8) 441-443; DOI: 10.1136/jclinpath-2020-206517

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