Amit U Sinha

Amit U Sinha

Cupertino, California, United States
2K followers 500+ connections

About

Using technology to improve medicine and healthcare. Focussed on developing the best way…

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Experience

  • Basepair Inc Graphic

    Basepair Inc

    Greater New York City Area

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    New York, New York, United States

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    Greater New York City Area

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    Greater Boston Area

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    Greater Boston Area

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Education

Publications

  • Mutations in epigenetic regulators including SETD2 are gained during relapse in paediatric acute lymphoblastic leukaemia.

    Nature communications

    Relapsed paediatric acute lymphoblastic leukaemia (ALL) has high rates of treatment failure.
    Epigenetic regulators have been proposed as modulators of chemoresistance, here, we sequence genes encoding epigenetic regulators in matched diagnosis–remission–relapse ALL
    samples. We find significant enrichment of mutations in epigenetic regulators at relapse with
    recurrent somatic mutations in SETD2, CREBBP, MSH6, KDM6A and MLL2, mutations in…

    Relapsed paediatric acute lymphoblastic leukaemia (ALL) has high rates of treatment failure.
    Epigenetic regulators have been proposed as modulators of chemoresistance, here, we sequence genes encoding epigenetic regulators in matched diagnosis–remission–relapse ALL
    samples. We find significant enrichment of mutations in epigenetic regulators at relapse with
    recurrent somatic mutations in SETD2, CREBBP, MSH6, KDM6A and MLL2, mutations in signalling factors are not enriched. Somatic alterations in SETD2, including frameshift and nonsense mutations, are present at 12% in a large de novo ALL patient cohort. We conclude that the enrichment of mutations in epigenetic regulators at relapse is consistent with a role in mediating therapy resistance.

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  • MLL-Rearranged Leukemia Is Dependent on Aberrant H3K79 Methylation by DOT1L

    Cancer Cell

    Other authors

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