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- Catucci, Irene, et al.
(author)
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Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility
- 2018
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In: Genetics in Medicine. - : Elsevier BV. - 1098-3600. ; 20:4, s. 452-457
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Journal article (peer-reviewed)abstract
- PurposeMonoallelic germ-line mutations in the BRCA1/FANCS, BRCA2/FANCD1 and PALB2/FANCN genes confer high risk of breast cancer. Biallelic mutations in these genes cause Fanconi anemia (FA), characterized by malformations, bone marrow failure, chromosome fragility, and cancer predisposition (BRCA2/FANCD1 and PALB2/FANCN), or an FA-like disease presenting a phenotype similar to FA but without bone marrow failure (BRCA1/FANCS). FANCM monoallelic mutations have been reported as moderate risk factors for breast cancer, but there are no reports of any clinical phenotype observed in carriers of biallelic mutations.MethodsBreast cancer probands were subjected to mutation analysis by sequencing gene panels or testing DNA damage response genes.ResultsFive cases homozygous for FANCM loss-of-function mutations were identified. They show a heterogeneous phenotype including cancer predisposition, toxicity to chemotherapy, early menopause, and possibly chromosome fragility. Phenotype severity might correlate with mutation position in the gene.ConclusionOur data indicate that biallelic FANCM mutations do not cause classical FA, providing proof that FANCM is not a canonical FA gene. Moreover, our observations support previous findings suggesting that FANCM is a breast cancer-predisposing gene. Mutation testing of FANCM might be considered for individuals with the above-described clinical features.Genetics in Medicine advance online publication, 24 August 2017; doi:10.1038/gim.2017.123.
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2. |
- Zhang, Jiang, et al.
(author)
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Quantum computation in noiseless subsystems with fast non-Abelian holonomies
- 2014
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In: Physical Review A. Atomic, Molecular, and Optical Physics. - 1050-2947 .- 1094-1622. ; 89:4, s. 042302-
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Journal article (peer-reviewed)abstract
- Quantum information processing requires a high degree of isolation from the detrimental effects of the environment as well as an extremely precise level of control on the way quantum dynamics unfolds in the information-processing system. In this paper, we show how these two goals can be ideally achieved by hybridizing the concepts of noiseless subsystems and of holonomic quantum computation. An all-geometric universal computation scheme based on non-adiabatic and non-Abelian quantum holonomies embedded in a four-qubit noiseless subsystem for general collective decoherence is proposed. The implementation details of this synergistic scheme along with the analysis of its stability against symmetry-breaking imperfections are presented.
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