Faculty of Medicine

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    CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers
    (Springer Science and Business Media LLC, 2021-02)
    Johnson, Nichola
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    Maguire, Sarah
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    Morra, Anna
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    Kapoor, Pooja Middha
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    Tomczyk, Katarzyna
    Epidemiological studies provide strong evidence for a role of endogenous sex hormones in the aetiology of breast cancer. The aim of this analysis was to identify genetic variants that are associated with urinary sex-hormone levels and breast cancer risk.
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    Common variants in breast cancer risk loci predispose to distinct tumor subtypes
    (Springer Science and Business Media LLC, 2022-01-04)
    Ahearn, Thomas U
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    Zhang, Haoyu
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    Michailidou, Kyriaki
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    Milne, Roger L
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    Bolla, Manjeet K
    Genome-wide association studies (GWAS) have identified multiple common breast cancer susceptibility variants. Many of these variants have differential associations by estrogen receptor (ER) status, but how these variants relate with other tumor features and intrinsic molecular subtypes is unclear.
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    Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment
    (Springer Science and Business Media LLC, 2021-08-18)
    Morra, Anna
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    Escala-Garcia, Maria
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    Beesley, Jonathan
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    Keeman, Renske
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    Canisius, Sander
    Given the high heterogeneity among breast tumors, associations between common germline genetic variants and survival that may exist within specific subgroups could go undetected in an unstratified set of breast cancer patients.
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    Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment
    (Springer Science and Business Media LLC, 2021)
    Morra, Anna
    ;
    Escala-Garcia, Maria
    ;
    Beesley, Jonathan
    ;
    Keeman, Renske
    ;
    Canisius, Sander
    Given the high heterogeneity among breast tumors, associations between common germline genetic variants and survival that may exist within specific subgroups could go undetected in an unstratified set of breast cancer patients.
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    Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses
    (Springer Science and Business Media LLC, 2020)
    Zhang, Haoyu
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    Ahearn, Thomas U
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    Lecarpentier, Julie
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    Barnes, Daniel
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    Beesley, Jonathan
    Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor subtype1-3. To identify novel loci, we performed a genome-wide association study including 133,384 breast cancer cases and 113,789 controls, plus 18,908 BRCA1 mutation carriers (9,414 with breast cancer) of European ancestry, using both standard and novel methodologies that account for underlying tumor heterogeneity by estrogen receptor, progesterone receptor and human epidermal growth factor receptor 2 status and tumor grade. We identified 32 novel susceptibility loci (P < 5.0 × 10-8), 15 of which showed evidence for associations with at least one tumor feature (false discovery rate < 0.05). Five loci showed associations (P < 0.05) in opposite directions between luminal and non-luminal subtypes. In silico analyses showed that these five loci contained cell-specific enhancers that differed between normal luminal and basal mammary cells. The genetic correlations between five intrinsic-like subtypes ranged from 0.35 to 0.80. The proportion of genome-wide chip heritability explained by all known susceptibility loci was 54.2% for luminal A-like disease and 37.6% for triple-negative disease. The odds ratios of polygenic risk scores, which included 330 variants, for the highest 1% of quantiles compared with middle quantiles were 5.63 and 3.02 for luminal A-like and triple-negative disease, respectively. These findings provide an improved understanding of genetic predisposition to breast cancer subtypes and will inform the development of subtype-specific polygenic risk scores.