35 research outputs found

    The 44Ti(α, p) reaction and its implication on the 44Ti yield in supernovae

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    Cross sections for the 44Ti(α, p)47V reaction which significantly affects the yield of 44Ti in supernovae were measured in the energy range 5.7MeV ≤ Ec.m. ≤ 9 MeV, using a beam of radioactive 44Ti. The cross sections and the deduced astrophysical reaction rates are larger than the results from theoretical calculations by about a factor of 2. The implications of this increase in the reaction rate for the search of supernovae using space-based gamma detectors are discussed

    Pathogenic Germline Variants in 10,389 Adult Cancers

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    We conducted the largest investigation of predisposition variants in cancer to date, discovering 853 pathogenic or likely pathogenic variants in 8% of 10,389 cases from 33 cancer types. Twenty-one genes showed single or cross-cancer associations, including novel associations of SDHA in melanoma and PALB2 in stomach adenocarcinoma. The 659 predisposition variants and 18 additional large deletions in tumor suppressors, including ATM, BRCA1, and NF1, showed low gene expression and frequent (43%) loss of heterozygosity or biallelic two-hit events. We also discovered 33 such variants in oncogenes, including missenses in MET, RET, and PTPN11 associated with high gene expression. We nominated 47 additional predisposition variants from prioritized VUSs supported by multiple evidences involving case-control frequency, loss of heterozygosity, expression effect, and co-localization with mutations and modified residues. Our integrative approach links rare predisposition variants to functional consequences, informing future guidelines of variant classification and germline genetic testing in cancer. A pan-cancer analysis identifies hundreds of predisposing germline variants
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