ArticleEuropean journal of human genetics : EJHG2017
SNP variants at the MAP3K1/SETD9 locus 5q11.2 associate with somatic PIK3CA variants in breast cancers.
Article in European journal of human genetics : EJHG, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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7 citing papers in PubMed, 12 citations in OpenAlex.
- Association of germline variants with KRAS-mutation status in colorectal cancer.Scientific reports · 2026Article
- Identifying somatic fingerprints of cancers defined by germline and environmental risk factors.Genetic epidemiology · 2024Article
- Association ofmedRxiv : the preprint server for health sciences · 2023Article
- Association between germline variants and somatic mutations in colorectal cancer.Scientific reports · 2022Article
- Germline Variants Impact Somatic Events during Tumorigenesis.Trends in genetics : TIG · 2019Review
- MAP3K1 rs889312 genotypes influence survival outcomes of Chinese gastric cancer patients who received adjuvant chemotherapy based on platinum and fluorouracil regimes.OncoTargets and therapy · 2019Article
- Common genetic variation in the germline influences where and how tumors develop.Molecular & cellular oncology · 2017Article
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2 authors at 1 institution in 1 country.
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Abstract
Genome-wide association studies have revealed many breast cancer (BC) risk-associated genetic variants that might functionally interact with other molecular determinants of BC. We analysed the association of 21 known risk-associated single-nucleotide variants (SNVs) with recurrent somatic variants in two cohorts of 77 and 754 oestrogen receptor α-positive BCs. Four SNVs located at 5q11.2 were found to be associated with the somatic PIK3CA variant status in the pilot cohort of 77 cases with odds ratio (OR) up to 6.5 indicating strong effects, and were selected for the validation phase. Two of these SNVs, rs252913 and rs331499, located in the MAP3K1/SETD9 gene boundary, were confirmed to be associated with somatic PIK3CA variants in the large cohort with OR 2.97 (1.17-7.75) and 1.76 (1.11-2.77), respectively, notably higher than their BC risk-associated values, both around 1.1. In the presence of the SNV or of somatic PIK3CA variants, cancers express significantly elevated levels of MAP3K1 and SETD9, with synergy of SNV and PIK3CA variants in MAP3K1 gene overexpression, consistent with a preferential PIK3CA-dependent regulation of the variant alleles.
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