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Cutaneous angiosarcoma after breast conserving treatment for bilateral breast cancers in a BRCA-1 gene mutation carrier - a case report and review of the literature

机译:BRCA-1基因突变载体对双侧乳腺癌进行保乳治疗后的皮肤血管肉瘤-病例报告及文献复习

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摘要

Breast conserving treatment for breast cancer is a frequent choice among women diagnosed with early, unifocal breast cancer. The cancer is excised and the remaining breast is irradiated to prevent local recurrence of the breast cancer.rnBRCA-1 is a susceptibility gene for breast and ovarian cancer and was first mapped in 1990 to the long arm of chromosome 17. BRCA-1 mutations are responsible for 5% of breast cancers. The population prevalence of BRCA-1 is estimated at 1 in 800. Most BRCA-1 mutations are predicted to produce a truncated protein product and thus loss of protein function, compromising the function of BRCA-1 as a tumour suppressor gene.1 Recent evidence points to BRCA-1 involvement in DNA repair processes. Loss of DNA repair function is assumed to lead to the accumulation of additional mutations and ultimately to carcinogenesis.
机译:在诊断为早期,单灶性乳腺癌的女性中,保乳治疗是乳腺癌的常见选择。切除了癌症,对剩余的乳房进行了照射,以防止乳腺癌的局部复发。rnBRCA-1是乳腺癌和卵巢癌的易感基因,于1990年首次被定位到17号染色​​体的长臂上。BRCA-1突变是造成5%的乳腺癌。据估计,BRCA-1的人群患病率为800:1。大多数BRCA-1突变预计会产生截短的蛋白质产物,从而丧失蛋白质功能,从而损害BRCA-1作为抑癌基因的功能。1最新证据指出BRCA-1参与DNA修复过程。 DNA修复功能的丧失被认为会导致其他突变的积累并最终导致癌变。

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  • 来源
    《The Surgeon》 |2009年第4期|250-250|共1页
  • 作者

    S. B. Williams; L. Wyld; M. Reed;

  • 作者单位

    Royal Hallamshire Hospital, Sheffield;

    Academic Unit of Surgical Oncology, University of Sheffield;

    Academic Unit of Surgical Oncology, University of Sheffield;

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  • 正文语种 eng
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