Novel intronic variant in PALB2 gene and effective prevention of Fanconi anemia in family.

Autor: Viakhireva I; Research Centre for Medical Genetics, Moskvorechie, 1, Moscow, Russian Federation, 115522., Musatova E; Research Centre for Medical Genetics, Moskvorechie, 1, Moscow, Russian Federation, 115522.; Center of Genetics and Reproductive Medicine 'Genetico', LLC, 3 b1, Gubkina str, Moscow, Russian Federation, 119333., Bessonova L; Research Centre for Medical Genetics, Moskvorechie, 1, Moscow, Russian Federation, 115522., Shcherbatyuk Y; Hospital Lapino, MD Medical Group, 111, 1-Ye Uspenskoye Shosse, Lapino, Moskovskaya region, Russian Federation, 143081., Korobkov S; Hospital Lapino, MD Medical Group, 111, 1-Ye Uspenskoye Shosse, Lapino, Moskovskaya region, Russian Federation, 143081., Zhikriveckaya S; Center of Genetics and Reproductive Medicine 'Genetico', LLC, 3 b1, Gubkina str, Moscow, Russian Federation, 119333., Sofronova Y; Center of Genetics and Reproductive Medicine 'Genetico', LLC, 3 b1, Gubkina str, Moscow, Russian Federation, 119333., Mironova I; Center of Genetics and Reproductive Medicine 'Genetico', LLC, 3 b1, Gubkina str, Moscow, Russian Federation, 119333., Khmelkova D; Genomed, Ltd, 8 b5, Podol'skoye Shosse, Moscow, Russian Federation, 115093., Konovalov F; Genomed, Ltd, 8 b5, Podol'skoye Shosse, Moscow, Russian Federation, 115093., Baranova A; Research Centre for Medical Genetics, Moskvorechie, 1, Moscow, Russian Federation, 115522.; Chronic Metabolic and Rare Diseases Systems Biology Initiative (ChroMe RaDSBIn), School of Systems Biology, George Mason University, 4400 University Dr, Fairfax, VA, 22030, USA., Pomerantseva E; Center of Genetics and Reproductive Medicine 'Genetico', LLC, 3 b1, Gubkina str, Moscow, Russian Federation, 119333., Skoblov M; Research Centre for Medical Genetics, Moskvorechie, 1, Moscow, Russian Federation, 115522. mskoblov@gmail.com.

Publikováno v: Familial cancer [Fam Cancer] 2020 Jul; Vol. 19 (3), pp. 241-246. Date of Electronic Publication: 2020 Feb 12.