• 作者：Lynnette Fernandez-Cuesta^a ; ¹ ; Sandra Perdomo^a ; ^b ; ¹ ; Patrice H. Avogbe^a ; ¹ ; Noemie Leblay^a ; Tiffany M. Delhomme^a ; Valerie Gaborieau^a ; Behnoush Abedi-Ardekani^a ; Estelle Chanudet^a ; Magali Olivier^a ; David Zaridze^c ; Anush Mukeria^c ; Marta Vilensky^d ; Ivana Holcatova^e ; Jerry Polesel^f ; Lorenzo Simonato^g ; Cristina Canova^g ; Pagona Lagiou^h ; Christian Brambillaⁱ ; Elisabeth Brambillaⁱ ; Graham Byrnes^a ; Ghislaine Scelo^a ; Florence Le Calvez-Kelm^a ; Matthieu Foll^a ; James D. McKay^a ; ^{MckayJ@iarc.fr" class="auth_mail" title="E-mail the corresponding author} ; Paul Brennan^a ; ^{BrennanP@iarc.fr" class="auth_mail" title="E-mail the corresponding author}
• 关键词：ctDNA ; cfDNA ; Small-cell lung cancer ; TP53 mutations ; Early detection ; Screening
• 刊名：EBioMedicine
• 出版年：2016
• 出版时间：August 2016
• 年：2016
• 卷：10
• 期：Complete
• 页码：117-123
• 全文大小：546 K

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CtDNA may play a crucial role in the detection of pre-clinical cancer.

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TP53 mutations are detectable in the cfDNA of SCLC patients with early-stage tumors.

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Detection of TP53 mutations in non-cancer controls poses serious challenges for the development of ctDNA screening tests.

Cell-free DNA (cfDNA) has potential for monitoring response to treatment and relapse, but also for early detection. This is the first study reporting the detection of circulating-tumor DNA (ctDNA) in cases diagnosed with small-cell lung cancer (SCLC). Our results show that TP53 mutations are detectable in the cfDNA of SCLC patients including those with early-stage tumors. Importantly, we also provide evidence that cancer-like TP53 mutations are present in non-cancer controls, which poses serious challenges for the development of ctDNA screening tests.