CD70

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bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @morinFrequentMutationHistonemodifying2011, @mandatoAbstractA38Cd702022, @russler-germainMutationsAssociatedProgression2023, @wrightProbabilisticClassificationTool2020, @nieDualRoleCD702022,

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Overview

CD70 is a costimulatory molecule expressed on some activated lymphocytes and has a role in T-cell-mediated immune responses. CD70 aberrations are relatively common in DLBCL and appear more frequent in certain DLBCL patient populations. For instance, in a Chinese DLBCL cohort, 24% of cases exhibited CD70 genetic changes, compared to 10.8% in a Swedish cohort.[@nieDualRoleCD702022] CD70 mutations are associated with the BN2 genetic subtype of DLBCL.[@wrightProbabilisticClassificationTool2020] The mutation pattern in CD70 is consistent with the preferential accumulation of inactivating mutations. Genetic perturbation limits the development of an effective CD8+ T-cell immune response in Bcl6-driven DLBCL. [@nieDualRoleCD702022] In mouse models, CD70 loss promoted lymphomagenesis, consistent with its role as a tumor suppressor gene in B-cell lymphomas.[@mandatoAbstractA38Cd702022]

Experimental Evidence

Driver mutations affecting this gene in DLBCL have been experimentally demonstrated to cause a reduction or loss of function (LOF).[@nieDualRoleCD702022]

Relevance tier by entity

include:tables/table1_CD70.md

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

include:tables/DLBCL_CD70.md

FL

include:tables/FL_CD70.md

Mutation pattern and selective pressure estimates

include:tables/dnds_CD70.md

CD70 Hotspots

Chromosome	Coordinate (hg19)	ref>alt	HGVSp
chr19	6590145	C>T	W55*
chr19	6590138	C>T	A58T
chr19	6590138	C>G	A58P
chr19	6590137	G>A	A58V
chr19	6590116	G>A	T65I

include:browser_CD70.md

Expression

include:tables/mermaid_CD70.md

References