Article
Whole-exome sequencing reveals germline-mutated small cell lung cancer subtype with favorable response to DNA repair-targeted therapies.
Science translational medicine - 27 Jan 2021
Tlemsani Camille, Takahashi Nobuyuki, Pongor Lorinc, Rajapakse Vinodh N, Tyagi Manoj, Wen Xinyu, Fasaye Grace-Ann, Schmidt Keith T, Desai Parth, Kim Chul, Rajan Arun, Swift Shannon, Sciuto Linda, Vilimas Rasa, Webb Santhana, Nichols Samantha, Figg William Douglas, Pommier Yves, Calzone Kathleen, Steinberg Seth M, Wei Jun S, Guha Udayan, Turner Clesson E, Khan Javed, Thomas Anish
Abstract excerpt
Because tobacco is a potent carcinogen, secondary causes of lung cancer are often diminished in perceived importance. To assess the extent of inherited susceptibility to small cell lung cancer (SCLC), the most lethal type of lung cancer, we sequenced germline exomes of 87 patients (77 SCLC and 10 extrapulmonary small cell) and considered 607 genes, discovering 42 deleterious variants in 35 cancer-predisposition...
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