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| 2. |
- Bravo, L, et al.
(författare)
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- 2021
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swepub:Mat__t
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- Tabiri, S, et al.
(författare)
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- 2021
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swepub:Mat__t
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- Figlioli, G, et al.
(författare)
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The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer
- 2019
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Ingår i: NPJ breast cancer. - : Springer Science and Business Media LLC. - 2374-4677. ; 5, s. 38-
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Tidskriftsartikel (refereegranskat)abstract
- Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM:p.Arg658*, p.Gln1701*, and p.Arg1931* for association with breast cancer risk in 67,112 cases, 53,766 controls, and 26,662 carriers of pathogenic variants of BRCA1 or BRCA2. These three variants were also studied functionally by measuring survival and chromosome fragility in FANCM−/− patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. We observed that FANCM:p.Arg658* was associated with increased risk of ER-negative disease and TNBC (OR = 2.44, P = 0.034 and OR = 3.79; P = 0.009, respectively). In a country-restricted analysis, we confirmed the associations detected for FANCM:p.Arg658* and found that also FANCM:p.Arg1931* was associated with ER-negative breast cancer risk (OR = 1.96; P = 0.006). The functional results indicated that all three variants were deleterious affecting cell survival and chromosome stability with FANCM:p.Arg658* causing more severe phenotypes. In conclusion, we confirmed that the two rare FANCM deleterious variants p.Arg658* and p.Arg1931* are risk factors for ER-negative and TNBC subtypes. Overall our data suggest that the effect of truncating variants on breast cancer risk may depend on their position in the gene. Cell sensitivity to olaparib exposure, identifies a possible therapeutic option to treat FANCM-associated tumors.
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- Thomas, HS, et al.
(författare)
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- 2019
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swepub:Mat__t
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| 16. |
- Glasbey, JC, et al.
(författare)
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- 2021
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swepub:Mat__t
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| 18. |
- Chowdhury, Mohammad Rocky Khan, et al.
(författare)
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Prevalence and correlates of severe under-5 child anthropometric failure measured by the Composite Index of Severe Anthropometric Failure in Bangladesh
- 2022
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Ingår i: Frontiers in Pediatrics. - : Frontiers. - 2296-2360. ; 10
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Tidskriftsartikel (refereegranskat)abstract
- Background: Although Bangladesh has made noticeable progress in reducing the prevalence of stunting, wasting, and being underweight among under-5 children, it has not been very successful in reducing overall severe anthropometric failure (SAF) among them. Therefore, the study aims to identify the prevalence and risk factors of SAF measured by the Composite Index of Severe Anthropometric Failure (CISAF) among under-5 children in Bangladesh. Methods: Data was drawn from a cross-sectional Bangladesh Demographic Health Survey (BDHS) conducted in 2017-18. A bivariate analysis (Chi-square test) and logistic regression analysis were used to estimate the unadjusted and age and sex adjusted prevalence of SAF. Odds ratio (OR) and confidence interval (CI) were assessed using logistic regression analysis to identify the various risk factor of SAF. Results: The overall adjusted prevalence of under-5 child SAF was 11.3% (95% CI: 10.6 - 12.0) and it was highly prevalent among children of uneducated mothers (adjusted, 22%, 95% CI: 17.3 - 26.8). The key factors associated with SAF were children in the age group 24-35 months (OR: 2.43, 95% CI: 1.83 – 3.23), children born with low birth weight (OR: 3.14, 95% CI: 2.24 – 4.97), children of underweight mothers (OR: 1.82, 95% CI: 1.44 – 2.29), children of parents with no formal education (OR: 2.28, 95% CI: 1.56 – 3.31) and children from lower socio-economic status (OR: 2.25, 95% CI: 1.55 – 3.26). Conclusion: Prioritizing and ensuring context-specific interventions addressing individual, community, public policy, and environment level risk factors from policy level to implementation to reduce structural and intermediary determinants of under-5 SAF.
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