Variant Views

Primary Reference: Ware, S. M. et al. JAHA, April 2021. Genes: This study examined 37 genes from clinical cardiomyopathy genetic testing panels. A University at Buffalo (UB)-led study on genes associated with pediatric cardiomyopathy strongly...

Primary Reference: Bonara, E. et. Al. Brain, April 15, 2021. Genes: LIG3 A team of scientists, led by Mariko Taniguchi-Ikeda from Fujita Health University Hospital, describes a set of seven patients with a novel mitochondrial disorder caused by...

Primary Reference:Prokopenko, D. et al. Azheimer’s & Dementia, April 2, 2021. Genes:FNBP1L, SEL1L, LINC00298, PRKCH, C150RF41, C2CD3, KIF2A, APC, LHX9, NALCN, CTNNA2, SYTL3, and CLSTN2. Researchers say they have performed the first study using...

Primary Reference #1: Breast Cancer Association Consortium, N. Eng. J. Med., Feb. 4, 2021. Genes: ATM, BARD1, BRCA1, BRCA2, CHEK2, MSH6, NF1, PALB2, PTEN, RAD51C, RAD51D, TP53, and more. To better define the genes associated with breast cancer...

Primary Reference: Kerr, KM et al. Lung Cancer, April 1, 2021. Genes: ALK, BRAF, EGFR, ERBB2/HER2, FGFR, KRAS, NRG1, NTRK, MET, RET, ROS1. Cancer biomarker testing varies across Europe, and the field is rapidly advancing. This paper provides a...

Primary reference: Fahed et al. Nature Communications, August 20, 2020. Genetic conditions: Familial hypercholesterolemia, hereditary breast and ovarian cancer, Lynch syndrome and others. "Genetic variation can predispose to disease both through...

Primary reference: Jia et al. AJHG. Jan. 7, 2021. Gene: MSH2. Lynch syndrome is mainly caused by variants in the DNA mismatch repair factors MSH2, MLH1, MSH6, and PMS2. While patients with a family history of this type of cancer can get screening,...

Primary reference: Kaplanis, J. et al. Nature, Oct. 14. 2020. Conditions: Developmental disorders. To identify previously undescribed genes associated with developmental disorders, researchers have integrated healthcare (clinical record) and...

Primary reference: Pairo-Castineira, et al. Nature. Dec. 11, 2020. Featured genes: OAS1, OAS2, OAS3, TYK2, DPP9, IFNAR2. Since lung inflammation drives mortality in critical illness caused by Covid-19, host genetic variants associated with this...

Primary Reference: Sadler et al. AJHG. Dec. 21, 2020. Genes: CHD8 and CHD3. Chiari I malformation (CM1) describes displacement of the cerebellum through the foramen magnum into the spinal canal, and it is one of the most common pediatric...