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  1. Article: Personalised Risk Prediction in Hereditary Breast and Ovarian Cancer: A Protocol for a Multi-Centre Randomised Controlled Trial.

    Archer, Stephanie / Fennell, Nichola / Colvin, Ellen / Laquindanum, Rozelle / Mills, Meredith / Dennis, Romy / Stutzin Donoso, Francisca / Gold, Rochelle / Fan, Alice / Downes, Kate / Ford, James / Antoniou, Antonis C / Kurian, Allison W / Evans, D Gareth / Tischkowitz, Marc

    Cancers

    2022  Volume 14, Issue 11

    Abstract: Women who test positive for an inherited pathogenic/likely pathogenic gene variant ... ...

    Abstract Women who test positive for an inherited pathogenic/likely pathogenic gene variant in
    Language English
    Publishing date 2022-05-31
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2527080-1
    ISSN 2072-6694
    ISSN 2072-6694
    DOI 10.3390/cancers14112716
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Single-cell analyses define a continuum of cell state and composition changes in the malignant transformation of polyps to colorectal cancer.

    Becker, Winston R / Nevins, Stephanie A / Chen, Derek C / Chiu, Roxanne / Horning, Aaron M / Guha, Tuhin K / Laquindanum, Rozelle / Mills, Meredith / Chaib, Hassan / Ladabaum, Uri / Longacre, Teri / Shen, Jeanne / Esplin, Edward D / Kundaje, Anshul / Ford, James M / Curtis, Christina / Snyder, Michael P / Greenleaf, William J

    Nature genetics

    2022  Volume 54, Issue 7, Page(s) 985–995

    Abstract: To chart cell composition and cell state changes that occur during the transformation of healthy colon to precancerous adenomas to colorectal cancer (CRC), we generated single-cell chromatin accessibility profiles and single-cell transcriptomes from 1, ... ...

    Abstract To chart cell composition and cell state changes that occur during the transformation of healthy colon to precancerous adenomas to colorectal cancer (CRC), we generated single-cell chromatin accessibility profiles and single-cell transcriptomes from 1,000 to 10,000 cells per sample for 48 polyps, 27 normal tissues and 6 CRCs collected from patients with or without germline APC mutations. A large fraction of polyp and CRC cells exhibit a stem-like phenotype, and we define a continuum of epigenetic and transcriptional changes occurring in these stem-like cells as they progress from homeostasis to CRC. Advanced polyps contain increasing numbers of stem-like cells, regulatory T cells and a subtype of pre-cancer-associated fibroblasts. In the cancerous state, we observe T cell exhaustion, RUNX1-regulated cancer-associated fibroblasts and increasing accessibility associated with HNF4A motifs in epithelia. DNA methylation changes in sporadic CRC are strongly anti-correlated with accessibility changes along this continuum, further identifying regulatory markers for molecular staging of polyps.
    MeSH term(s) Adenoma/genetics ; Adenoma/pathology ; Cell Transformation, Neoplastic/genetics ; Colorectal Neoplasms/genetics ; Colorectal Neoplasms/pathology ; DNA Methylation/genetics ; Humans ; Single-Cell Analysis
    Language English
    Publishing date 2022-06-20
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
    ZDB-ID 1108734-1
    ISSN 1546-1718 ; 1061-4036
    ISSN (online) 1546-1718
    ISSN 1061-4036
    DOI 10.1038/s41588-022-01088-x
    Database MEDical Literature Analysis and Retrieval System OnLINE

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