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Introduction: CHEK2 is a moderate penetrance breast cancer risk gene, whose truncating mutation 1100delC increases the risk about two fold. We pursued to investigate gene copy number aberrations and gene expression profiles that are typical for breast tumors of CHEK2 1100delC mutation carriers. Mat...
ORGANISM(S): Homo sapiens 
Abstract Introduction: CHEK2 is a moderate penetrance breast cancer risk gene, whose truncating mutation 1100delC increases the risk about two fold. We pursued to investigate gene copy number aberrations and gene expression profiles that are typical for breast tumors of CHEK2 1100delC mutation carri...
ORGANISM(S): Homo sapiens 
This SuperSeries is composed of the following subset Series: GSE24697: Breast tumors from CHEK2 1100delC mutation carriers: genomic landscape and clinical implications (GEX) GSE24698: Breast tumors from CHEK2 1100delC mutation carriers: genomic landscape and clinical implications (CGH) Refer to indi...
ORGANISM(S): Homo sapiens 
Predisposition to hematopoietic malignancies by deleterious germline CHEK2 variants
The role of germline CHEK2 variants in hematopoietic malignancies (HMs) is poorly understood. We examined pathogenic/likely pathogenic (P/LP) CHEK2 variants in a hereditary hematopoietic malignancy (HHM) and solid tumor risk cohorts, the UK Biobank, public acute myeloid leukemia (AML) datasets, and ...
ORGANISM(S): Mus musculus 
2025-05-01 | GSE268966 | GEO
Introduction: CHEK2 is a moderate penetrance breast cancer risk gene, whose truncating mutation 1100delC increases the risk about two fold. We pursued to investigate gene copy number aberrations and gene expression profiles that are typical for breast tumors of CHEK2 1100delC mutation carriers. Mate...
ORGANISM(S): Homo sapiens 
2011-05-10 | GSE24698 | GEO
Introduction: CHEK2 is a moderate penetrance breast cancer risk gene, whose truncating mutation 1100delC increases the risk about two fold. We pursued to investigate gene copy number aberrations and gene expression profiles that are typical for breast tumors of CHEK2 1100delC mutation carriers. Mate...
ORGANISM(S): Homo sapiens 
2011-05-10 | GSE24697 | GEO
Mutations in CHEK2 affect the tumor immune microenvironment and increase the response to PD-1 inhibitor therapy
Genomics
Germline CHEK2 Mutation
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