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- Jakubowska, A, et al.
(författare)
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Association of PHB 1630 C andgt; T and MTHFR 677 C andgt; T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study
- 2012
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Ingår i: British Journal of Cancer. - : Cancer Research UK / Nature Publishing Group. - 0007-0920 .- 1532-1827. ; 106:12, s. 2016-2024
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: The variable penetrance of breast cancer in BRCA1/2 mutation carriers suggests that other genetic or environmental factors modify breast cancer risk. Two genes of special interest are prohibitin (PHB) and methylene-tetrahydrofolate reductase (MTHFR), both of which are important either directly or indirectly in maintaining genomic integrity. less thanbrgreater than less thanbrgreater thanMETHODS: To evaluate the potential role of genetic variants within PHB and MTHFR in breast and ovarian cancer risk, 4102 BRCA1 and 2093 BRCA2 mutation carriers, and 6211 BRCA1 and 2902 BRCA2 carriers from the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA) were genotyped for the PHB 1630 Candgt;T (rs6917) polymorphism and the MTHFR 677 Candgt;T (rs1801133) polymorphism, respectively. less thanbrgreater than less thanbrgreater thanRESULTS: There was no evidence of association between the PHB 1630 Candgt;T and MTHFR 677 Candgt;T polymorphisms with either disease for BRCA1 or BRCA2 mutation carriers when breast and ovarian cancer associations were evaluated separately. Analysis that evaluated associations for breast and ovarian cancer simultaneously showed some evidence that BRCA1 mutation carriers who had the rare homozygote genotype (TT) of the PHB 1630 Candgt;T polymorphism were at increased risk of both breast and ovarian cancer (HR 1.50, 95% CI 1.10-2.04 and HR 2.16, 95% CI 1.24-3.76, respectively). However, there was no evidence of association under a multiplicative model for the effect of each minor allele. less thanbrgreater than less thanbrgreater thanCONCLUSION: The PHB 1630TT genotype may modify breast and ovarian cancer risks in BRCA1 mutation carriers. This association need to be evaluated in larger series of BRCA1 mutation carriers.
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- Hillert, J., et al.
(författare)
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Expert opinion on the use of contraception in people with multiple sclerosis
- 2022
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Ingår i: Multiple Sclerosis Journal. - : Sage Publications. - 1352-4585 .- 1477-0970. ; 28:Suppl. 3, s. 187-188
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Introduction: The most appropriate use, type, and timing of contraception in people with multiple sclerosis (PwMS) is poorly understood, and specific guidance is absent.Aims and Objectives: To provide insight into potential clinical guidelines for the use of contraception by PwMS through development of recommendations by a consensus-based program led by international clinical experts.Methods: A multidisciplinary steering committee (SC) of 13 international expert healthcare professionals (HCPs) identified 15 key clinical questions on the use of contraception in PwMS, which addressed issues relating to patient-centred care, selection of contraception for PwMS, and time needed to use contraception since the last dose of disease modifying therapies (DMTs). Twenty-five clinical recommendations addressing the questions were drafted using evidence obtained from a comprehensive systematic literature review combined with expert opinion from the SC. An extended faculty of 32 HCPs from 18 countries including a patient association representative, and the SC members (n=12), voted on the recommendations. Consensus on recommendations was achieved when ⩾75% of respondents expressed an agreement score of 7–9, on a 9-point scale.Results: Overall, consensus was achieved on 24 out of 25 clinical recommendations. In detail, consensus in the range of 90–100% was achieved on 11 recommendations, 12 recommendations achieved 80–89% consensus, and 1 recommendation achieved 75–79% consensus (n=44). The strength of recommendations ranged from 7–9. The one statement failing to achieve consensus scored 74.1%. Clinical recommendations are provided on the process of prescribing contraception for PwMS, including the recommended types of HCPs involved and optimal topics to discuss; the range of contraceptive options and the key considerations involved in selecting an appropriate method of contraception; and the timing of starting and stopping contraception in relation to the use of DMTs.Conclusions: These expert recommendations were based on a robust consensus approach, providing timely and practical guidance on the use of contraception for HCPs treating PwMS and will form the basis of further publications and clinical tools.
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- Berg, Malin, 1976, et al.
(författare)
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Fatigue in Long-Term Head and Neck Cancer Survivors From Diagnosis Until Five Years After Treatment
- 2023
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Ingår i: Laryngoscope. - : Wiley. - 0023-852X.
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Tidskriftsartikel (refereegranskat)abstract
- Objectives: Fatigue due to cancer is a challenging symptom that might be long-lasting after cancer treatment. The aim of this study was to follow the development of fatigue among head and neck cancer (HNC) patients prospectively and longitudinally and to analyze predictors for acute and chronic fatigue. Methods: HNC patients treated with curative intent were included at diagnosis and completed the following questionnaires multiple times, up to 5 years after treatment: the EORTC QLQ-FA12 for fatigue, EORTC QLQ-C30, and HNC-specific EORTC QLQ-H&N35 together with an anxiety and depression questionnaire. Predictors of fatigue were evaluated at 3 months and 5 years after treatment. Results: Of the 311 study participants, 74% responded at the 5-year follow-up. Physical fatigue was significantly worse 3 months after treatment, while emotional and cognitive fatigue were the worst at diagnosis and at 3 months. All fatigue domains were significantly better after 1 year, and the fatigue scores remained stable from 1 until 5 years after treatment. Three months after chemoradiotherapy, physical fatigue was more significant, but no long-term differences due to treatment modalities were found. Depression and anxiety were predictors for chronic emotional fatigue, and local HN pain and swallowing problems were predictors for chronic physical fatigue. Better global quality of life at diagnosis was associated with less physical and emotional fatigue. Conclusion: Fatigue was worst in the short term for HNC patients and improved after 1 year, and long-term fatigue remained stable up to 5 years after treatment. A few predictors for chronic fatigue were found. Level of Evidence: 3 Laryngoscope, 2023. © 2023 The Authors. The Laryngoscope published by Wiley Periodicals LLC on behalf of The American Laryngological, Rhinological and Otological Society, Inc.
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