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校准癌症风险、不确定性与环境:巴西南部的遗传学及其背景

Calibrating cancer risk, uncertainty and environments: Genetics and their contexts in southern Brazil.

作者信息

Gibbon Sahra

出版信息

Biosocieties. 2018 Dec;13(4):761-779. doi: 10.1057/s41292-017-0095-7. Epub 2018 Sep 28.

Abstract

Drawing on empirical ethnographic research in Brazil this paper examines how in the spaces between identifying genetic markers and conditional cancer risk, environments and diverse epigenetic logics are emerging and being negotiated among research and clinical communities, patients and their families. Focusing on an arena of research and medical intervention related to a gene variant known as R337h, thought to occur with high frequency in the south of Brazil and linked to the cancer syndrome Li-Fraumeni, it emphasises the relevance of examining epigenetics as an emic category but also its utility as an analytic category. It shows how in a context of not yet fully knowing how and in what ways R337h contributes to increased cancer, a range of different 'environments' are invoked that unevenly articulate an emerging and still inchoate and unfolding terrain of understanding. In an arena of expanding genomic research and medicine, where the identification of low risk mutations associated with cancer is increasingly common, the Brazilian case provides a particular lens on the way environments and genes are being meaningfully calibrated and how differently implicated communities resourcefully populate the gaps in knowledge and understanding with consequences for research, care and embodied risk.

摘要

本文借鉴了在巴西开展的实证民族志研究,探讨了在识别基因标记与癌症条件性风险之间的空间里,环境和多样的表观遗传逻辑是如何在研究与临床社区、患者及其家庭之间浮现并进行协商的。以一个与名为R337h的基因变体相关的研究和医学干预领域为重点,该基因变体被认为在巴西南部高频出现且与李-弗劳梅尼癌症综合征有关,本文强调了将表观遗传学视为一个主位范畴进行研究的相关性,以及它作为一个分析范畴的效用。本文展示了在尚未完全了解R337h如何以及以何种方式导致癌症风险增加的背景下,一系列不同的“环境”是如何被援引的,它们不均衡地勾勒出一个正在浮现且仍不完整、尚在展开的理解领域。在基因组研究和医学不断扩展的领域中,识别与癌症相关的低风险突变越来越普遍,巴西的案例为观察环境与基因如何被有意义地校准,以及不同相关群体如何巧妙地填补知识和理解上的空白提供了一个独特视角,这对研究、护理及个体风险均产生了影响。

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The Inherited p53 Mutation in the Brazilian Population.巴西人群中的遗传性p53突变。
Cold Spring Harb Perspect Med. 2016 Dec 1;6(12):a026195. doi: 10.1101/cshperspect.a026195.
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Psychiatry, bio-epistemes and the making of adolescence in southern Brazil.精神病学、生物认知与巴西南部青少年的形成
Hist Cienc Saude Manguinhos. 2016 Jan-Mar;23(1):131-54. doi: 10.1590/S0104-59702016000100009.
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Scrutinizing the epigenetics revolution.审视表观遗传学革命。
Biosocieties. 2014 Nov;9(4):431-456. doi: 10.1057/biosoc.2014.22.

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