【佳學(xué)基因檢測(cè)】用于遺傳性乳腺癌和婦科癌癥風(fēng)險(xiǎn)評(píng)估的下一代測(cè)序

靶向藥基因檢測(cè)兩萬(wàn)有必要嗎—標(biāo)準(zhǔn)

與專(zhuān)家交流知道《Curr Opin Obstet Gynecol》在?2015 Feb;27(1):23-33發(fā)表了一篇題目為《用于遺傳性乳腺癌和婦科癌癥風(fēng)險(xiǎn)評(píng)估的下一代測(cè)序》腫瘤靶向藥物治療基因檢測(cè)臨床研究文章。該研究由Allison W Kurian,?Kerry E Kingham,?James M Ford等完成。促進(jìn)了腫瘤的正確治療與個(gè)性化用藥的發(fā)展，進(jìn)一步強(qiáng)調(diào)了基因信息檢測(cè)與分析的重要性。

腫瘤靶向藥物及正確治療臨床研究?jī)?nèi)容關(guān)鍵詞：

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腫瘤靶向治療基因檢測(cè)臨床應(yīng)用結(jié)果

審查目的：總結(jié)下一代測(cè)序的進(jìn)展及其在乳腺癌和婦科癌癥風(fēng)險(xiǎn)評(píng)估中的應(yīng)用。賊近的發(fā)現(xiàn)：6-112 個(gè)癌癥相關(guān)基因的下一代測(cè)序面板越來(lái)越多地用于患者護(hù)理。研究報(bào)告稱(chēng)，在符合 BRCA1/2 檢測(cè)循證實(shí)踐指南的患者中，除 BRCA1/2 以外的突變發(fā)生率為 4-16%，其中意義不明的不可解釋變異發(fā)生率很高（15-88%）。 Despite uncertainty about results interpretation and communication, there is early evidence of a benefit from multiple-gene sequencing panels for appropriately selected patients.Summary: Multiple-gene sequencing panels appear highly promising for the assessment of breast and gynecologic cancer risk, and they may usefully在癌癥遺傳學(xué)專(zhuān)業(yè)知識(shí)和/或臨床研究方案的背景下進(jìn)行管理。

腫瘤發(fā)生與反復(fù)轉(zhuǎn)移國(guó)際數(shù)據(jù)庫(kù)描述：

Purpose of review:?To summarize advances in next-generation sequencing and their application to breast and gynecologic cancer risk assessment.Recent findings:?Next-generation sequencing panels of 6-112 cancer-associated genes are increasingly used in patient care. Studies report a 4-16% prevalence of mutations other than BRCA1/2 among patients who meet evidence-based practice guidelines for BRCA1/2 testing, with a high rate (15-88%) of uninterpretable variants of uncertain significance. Despite uncertainty about results interpretation and communication, there is early evidence of a benefit from multiple-gene sequencing panels for appropriately selected patients.Summary:?Multiple-gene sequencing panels appear highly promising for the assessment of breast and gynecologic cancer risk, and they may usefully be administered in the context of cancer genetics expertise and/or clinical research protocols.