| 81. |
- Spurdle, Amanda B., et al.
(författare)
-
Common Genetic Variation at BARD1 Is Not Associated with Breast Cancer Risk in BRCA1 or BRCA2 Mutation Carriers
- 2011
-
Ingår i: Cancer Epidemiology Biomarkers & Prevention. - 1538-7755 .- 1055-9965. ; 20:5, s. 1032-1038
-
Tidskriftsartikel (refereegranskat)abstract
- Background: Inherited BRCA1 and BRCA2 (BRCA1/2) mutations confer elevated breast cancer risk. Knowledge of factors that can improve breast cancer risk assessment in BRCA1/2 mutation carriers may improve personalized cancer prevention strategies. Methods: A cohort of 5,546 BRCA1 and 2,865 BRCA2 mutation carriers was used to evaluate risk of breast cancer associated with BARD1 Cys557Ser. In a second nonindependent cohort of 1,537 of BRCA1 and 839 BRCA2 mutation carriers, BARD1 haplotypes were also evaluated. Results: The BARD1 Cys557Ser variant was not significantly associated with risk of breast cancer from single SNP analysis, with a pooled effect estimate of 0.90 (95% CI: 0.71-1.15) in BRCA1 carriers and 0.87 (95% CI: 0.59-1.29) in BRCA2 carriers. Further analysis of haplotypes at BARD1 also revealed no evidence that additional common genetic variation not captured by Cys557Ser was associated with breast cancer risk. Conclusion: Evidence to date does not support a role for BARD1 variation, including the Cy557Ser variant, as a modifier of risk in BRCA1/2 mutation carriers. Impact: Interactors of BRCA1/2 have been implicated as modifiers of BRCA1/2-associated cancer risk. Our finding that BARD1 does not contribute to this risk modification may focus research on other genes that do modify BRCA1/2-associated cancer risk. Cancer Epidemiol Biomarkers Prev; 20(5); 1032-38. (C) 2011 AACR.
|
|
| 82. |
- Walker, Logan C, et al.
(författare)
-
Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers.
- 2010
-
Ingår i: Breast cancer research : BCR. - : Springer Science and Business Media LLC. - 1465-542X .- 1465-5411. ; 12:6
-
Tidskriftsartikel (refereegranskat)abstract
- Current attempts to identify genetic modifiers of BRCA1 and BRCA2 associated risk have focused on a candidate gene approach, based on knowledge of gene functions, or the development of large genome-wide association studies. In this study, we evaluated 24 SNPs tagged to 14 candidate genes derived through a novel approach that analysed gene expression differences to prioritise candidate modifier genes for association studies.
|
|
| 83. |
|
|
| 84. |
- Stevens, Kristen N., et al.
(författare)
-
Common Breast Cancer Susceptibility Loci Are Associated with Triple-Negative Breast Cancer
- 2011
-
Ingår i: Cancer Research. - 1538-7445. ; 71:19, s. 6240-6249
-
Tidskriftsartikel (refereegranskat)abstract
- Triple-negative breast cancers are an aggressive subtype of breast cancer with poor survival, but there remains little known about the etiologic factors that promote its initiation and development. Commonly inherited breast cancer risk factors identified through genome-wide association studies display heterogeneity of effect among breast cancer subtypes as defined by the status of estrogen and progesterone receptors. In the Triple Negative Breast Cancer Consortium (TNBCC), 22 common breast cancer susceptibility variants were investigated in 2,980 Caucasian women with triple-negative breast cancer and 4,978 healthy controls. We identified six single-nucleotide polymorphisms, including rs2046210 (ESR1), rs12662670 (ESR1), rs3803662 (TOX3), rs999737 (RAD51L1), rs8170 (19p13.1), and rs8100241 (19p13.1), significantly associated with the risk of triple-negative breast cancer. Together, our results provide convincing evidence of genetic susceptibility for triple-negative breast cancer. Cancer Res; 71(19); 6240-9. (C)2011 AACR.
|
|
| 85. |
- Beesley, Luke, et al.
(författare)
-
The Impacts of Applying Metal(loid) Enriched Wood Ash to Soils on the Growth and Elemental Accumulation of Rice
- 2019
-
Ingår i: Exposure and Health. - : Springer. - 2451-9766 .- 2451-9685. ; 11:4, s. 311-324
-
Tidskriftsartikel (refereegranskat)abstract
- The mobility and uptake of phosphorus, manganese, arsenic, copper, zinc and several other heavy metal(loid)s to rice shoots and grains were measured under controlled irrigation [flooded and non-flooded] conditions in a pot experiment. Doses of 0.1-1% (w:w) of a metal(loid)-rich wood ash containing <= 13,000 mg kg(-1) phosphorus, manganese, arsenic, copper and zinc were applied to a study soil to determine the impacts of the ash on rice grain quality and the fate of metal(loid)s. Pore water and rice shoots and grains were analysed for beneficial and toxic elements derived from the ash, and Food-chain exposure modelling was applied to the experimental data thereafter to predict risk of onward impacts to human health. Concentrations of phosphorus and manganese in pore water increased with ash addition, though this did not enhance grain phosphorus or manganese. Zinc mobility was largely reduced over the course of the experiment, but appeared unrelated to ash dose. Arsenic presented the greatest mobility in pore water of all measured metal(loid)s (similar to 2500 mu g l(-1)), with shoot concentrations displaying clear dose and irrigation response. Although rice concentrations of arsenic in grain were the lowest of all measured metal(loid)s, risk-modelling of the data showed that even a 0.1% addition of the study ash to soil could expose a high rice consuming cohort to a vastly increased probability of deleterious health impacts. Whilst it is unlikely that contaminated ash would be knowingly applied to land, this study highlights that even singular applications of metal(loid) rich ash to agricultural soils could have negative effects on crops and forward impacts to human health. Other application scenarios, whereby lesser contaminated ashes are repeatedly applied to soils, warrant further work with regard to potential risks of accumulated metal(loid)s entering the food chain.
|
|
