外基序列测序确定PALB2是胰腺癌易感基因
Siân Jones1, Ralph H Hruban, Mihoko Kamiyama
1Ludwig Center for Cancer Genetics and Therapeutics and Howard Hughes Medical Institute, Baltimore, MD 21231, USA.
Science (New York, N.Y.)
|March 7, 2009
概括
研究人员发现了一种新基因,BRCA2的合作伙伴和局部化器 (PALB2),与遗传性胰腺癌有关. 这一发现凸显了综合基因测序在诊断罕见遗传性疾病中的重要性.
科学领域:
- 遗传学 是一个遗传学.
- 在瘤学瘤学.
- 分子生物学分子生物学
背景情况:
- 家族性胰腺癌 (FPC) 是一种罕见但具有强烈遗传成分的侵袭性疾病.
- 识别导致FPC的特定遗传突变对于诊断,风险评估和潜在的治疗策略至关重要.
- 以前的研究已经涉及几种基因在FPC,但遗传景观仍然不完全理解.
研究的目的:
- 在患有家族性胰腺癌的患者中确定遗传性倾向的遗传原因.
- 在一个更大的队列中验证已识别的基因作为胰腺癌易感因子的作用.
主要方法:
- 在一个被诊断为家族性胰腺癌的患者身上进行了全外体测序.
- 从96名额外的家族胰腺癌患者的生殖基因DNA中分析了候选基因的突变.
- 考虑了鉴定基因与BRCA2的功能关联.
主要成果:
- 在最初的患者中,PALB2基因的生殖系,切断突变被确定为遗传性胰腺癌的可能原因.
- 在96名家族胰腺癌患者中发现了PALB2的另外三种独特的蛋白质截断突变,证实了它的作用.
- PALB2是BRCA2的已知结合伙伴,BRCA2是一种与乳腺癌和卵巢癌相关的基因.
结论:
- PALB2是胰腺癌的易感基因,有助于疾病的遗传形式.
- 蛋白质编码基因的全面,公正的测序是识别新型致病基因的有效策略.
- 这些发现扩大了与PALB2突变相关的遗传性癌症综合征的范围.
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