Article
Haplotype-resolved germline and somatic alterations in renal medullary carcinomas.
Genome medicine - 14 Jul 2021
Tan Kar-Tong, Kim Hyunji, Carrot-Zhang Jian, Zhang Yuxiang, Kim Won Jun, Kugener Guillaume, Wala Jeremiah A, Howard Thomas P, Chi Yueh-Yun, Beroukhim Rameen, Li Heng, Ha Gavin, Alper Seth L, Perlman Elizabeth J, Mullen Elizabeth A, Hahn William C, Meyerson Matthew, Hong Andrew L
Abstract excerpt
BACKGROUND: Renal medullary carcinomas (RMCs) are rare kidney cancers that occur in adolescents and young adults of African ancestry. Although RMC is associated with the sickle cell trait and somatic loss of the tumor suppressor, SMARCB1, the ancestral origins of RMC remain unknown. Further, characterization of structural variants (SVs) involving SMARCB1 in RMC remains limited. METHODS: We used linked-read genome...
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