| 1. |
- Kanai, M, et al.
(author)
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- 2023
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swepub:Mat__t
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| 2. |
- Niemi, MEK, et al.
(author)
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- 2021
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swepub:Mat__t
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| 3. |
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| 5. |
- Andersson, U. B., et al.
(author)
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Ancient and juvenile components in the continental crust and mantle : Hf isotopes in zircon from Svecofennian magmatic rocks and rapakivi granites in Sweden
- 2011
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In: Lithosphere. - 1941-8264 .- 1947-4253. ; 3:6, s. 409-419
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Journal article (peer-reviewed)abstract
- The sources of igneous rocks in the continental crust are elusive, but they may be traced by radiogenic isotopes, which convey a message about the age and composition of the concealed parts of the continent. We investigated the Hf-isotope composition of zircon in ten rocks from central and southern Sweden. Two felsic metavolcanic rocks and two metagabbros (ca. 1.89 Ga) from Bergslagen, southern Sweden, show epsilon(Hf)(t) ranges of -1.8 to +5.1 and +2.6 to +6.8, respectively, suggesting that juvenile sources have contributed to both. A 1.85 Ga granite from southern Bergslagen shows a epsilon(Hf)(t) range of -2.6 to +4.6 for magmatic zircons, but both highly negative and positive values for inherited grains, providing evidence for both Archean and juvenile crustal sources. These and previous data confirm the existence of juvenile proto-Svecofennian crust (<2.2-1.9 Ga) with a minor Archean component, from which later crustal magmas were generated. The Hf-isotope evolution curve for this crust can be approximated by epsilon(Hf)(1.90) = 3 +/- 3 and (176)Lu/(177)Hf = 0.018. Similarly, the present data, together with data for younger mafic intrusions, can be used to infer the presence of a "mildly depleted" sub-Svecofennian mantle evolution curve with epsilon(Hf)(1.90) = 4.5 +/- 2.5 and (176)Lu/(177)Hf = 0.0315. Zircons from four out of five rapakivi intrusions (1.53-1.50 Ga) in central Sweden yield negative epsilon(Hf)(t) in the range -9.8 to -4.6, suggesting mixed Archean and juvenile Svecofennian sources. One intrusion farther south ranges between epsilon(Hf)(t) of -4.1 and -1.6, and has a larger contribution from Svecofennian crust. The data suggest that the crust in Bergslagen, southern Sweden, is dominantly Paleoproterozoic, while higher proportions of Archean material are present below central Sweden.
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| 6. |
- Begg, Colin B, et al.
(author)
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Variation of breast cancer risk among BRCA1/2 carriers
- 2008
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In: JAMA: The Journal of the American Medical Association. - : American Medical Association (AMA). - 1538-3598. ; 299:2, s. 194-201
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Journal article (peer-reviewed)abstract
- CONTEXT: The risk of breast cancer in BRCA1 and BRCA2 mutation carriers has been examined in many studies, but relatively little attention has been paid to the degree to which the risk may vary among carriers. OBJECTIVES: To determine the extent to which risks for BRCA1 and BRCA2 carriers vary with respect to observable and unobservable characteristics. DESIGN, SETTING, AND PARTICIPANTS: Probands were identified from a population-based, case-control study (Women's Environmental Cancer and Radiation Epidemiology [WECARE]) of asynchronous contralateral breast cancer conducted during the period of January 2000 to July 2004. Participants previously diagnosed with contralateral breast cancer or unilateral breast cancer were genotyped for mutations in BRCA1 and BRCA2. All participants had their initial breast cancer diagnosed during the period of January 1985 to December 2000, before the age of 55 years. MAIN OUTCOME MEASURE: Incidence of breast cancer in first-degree female relatives of the probands was examined and compared on the basis of proband characteristics and on the basis of variation between families. RESULTS: Among the 1394 participants with unilateral breast cancer, 73 (5.2%) were identified as carriers of deleterious mutations (42 with BRCA1 and 31 with BRCA2). Among the 704 participants with contralateral breast cancer, 108 (15.3%) were identified as carriers of deleterious mutations (67 with BRCA1 and 41 with BRCA2). Among relatives of carriers, risk was significantly associated with younger age at diagnosis in the proband (P = .04), and there was a trend toward higher risk for relatives of contralateral breast cancer vs unilateral breast cancer participants (odds ratio, 1.4 [95% confidence interval, 0.8-2.4]; P = .28). In addition, there were significant differences in risk between carrier families after adjusting for these observed characteristics. CONCLUSION: There exists broad variation in breast cancer risk among carriers of BRCA1 and BRCA2 mutations.
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| 7. |
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| 8. |
- Bernstein, Jonine L., et al.
(author)
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Contralateral breast cancer after radiotherapy among BRCA1 and BRCA2 mutation carriers: A WECARE Study Report
- 2013
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In: European Journal of Cancer. - : Elsevier BV. - 1879-0852 .- 0959-8049. ; 49:14, s. 2979-2985
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Journal article (peer-reviewed)abstract
- Background: Women with germline BRCA1 or BRCA2 (BRCA1/BRCA2) mutations are at very high risk of developing breast cancer, including asynchronous contralateral breast cancer (CBC). BRCA1/BRCA2 genes help maintain genome stability and assist in DNA repair. We examined whether the risk of CBC associated with radiation treatment was higher among women with germline BRCA1/BRCA2 mutations than among non-carriers. Methods: A population-based, nested case-control study was conducted within a cohort of 52,536 survivors of unilateral breast cancer (UBC). Cases were 603 women with CBC and controls were 1199 women with UBC individually matched on age at diagnosis, race, year of first diagnosis and cancer registry. All women were tested for BRCA1 and BRCA2 mutations. Radiation absorbed dose from the initial radiotherapy (RT) to the CBC location within the contralateral breast was reconstructed from measurements in a tissue-equivalent phantom and details available in the therapy records. Findings: Among women treated with radiation, the mean radiation dose was 1.1 Gy (range = 0.02-6.2 Gy). Risk of developing CBC was elevated among women who carried a deleterious BRCA1/BRCA2 mutation (rate ratio, RR = 4.5, confidence interval, CI = 3.0-6.8), and also among those treated with RT (RR = 1.2, CI = 1.0-1.6). However, among mutation carriers, an incremental increase in risk associated with radiation dose was not statistically significant. Interpretation: Multiplicative interaction of RT with mutation status would be reflected by a larger association of RT with CBC among carriers than among non-carriers, but this was not apparent. Accordingly, there was no clear indication that carriers of deleterious BRCA/BRCA2 mutations were more susceptible to the carcinogenic effects of radiation than non-carriers. These findings are reassuring and have important clinical implications for treatment decisions and the clinical management of patients harbouring deleterious BRCA1/BRCA2 mutations. Funding: All work associated with this study was supported by the U.S. National Cancer Institute [R01CA097397, U01CA083178]. (C) 2013 Elsevier Ltd. All rights reserved.
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| 9. |
- Borg, Åke, et al.
(author)
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Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.
- 2010
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In: Human Mutation. - : Hindawi Limited. - 1059-7794 .- 1098-1004. ; 31, s. 1200-1240
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Journal article (peer-reviewed)abstract
- BRCA1 and BRCA2 screening in women at high-risk of breast cancer results in the identification of both unambiguously defined deleterious mutations and sequence variants of unknown clinical significance (VUS). We examined a population-based sample of young women with contralateral breast cancer (CBC, n=705) or unilateral breast cancer (UBC, n=1398). We identified 470 unique sequence variants, of which 113 were deleterious mutations. The remaining 357 VUS comprised 185 unique missense changes, 60% were observed only once, while 3% occurred with a frequency of >10%. Deleterious mutations occurred three times more often in women with CBC (15.3%) than in women with UBC (5.2%), whereas combined, VUS were observed in similar frequencies in women with CBC and UBC. A protein alignment algorithm defined 16 rare VUS, occurring at highly conserved residues and/or conferring a considerable biochemical difference, the majority located in the BRCA2 DNA-binding domain. We confirm a multiplicity of BRCA1 and BRCA2 VUS that occur at a wide range of allele frequencies. Although some VUS inflict chemical differences at conserved residues, suggesting a deleterious effect, the majority are not associated with an increased risk of CBC. (c) 2010 Wiley-Liss, Inc.
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