Abstract
Multigene panel testing via next-generation sequencing focuses on the detection of small-sized mutations, such as single nucleotide variants and short insertions and deletions (INDELs). However, intermediate-sized INDELs have not been fully explored due to technical difficulties. Here, we performed bioinformatics analyses to identify intermediate-sized INDELs in 54 cancer-related genes from 583 Han Chinese patients with breast cancer. We detected a novel deletion–insertion in a translational variant of PTEN (also known as PTENα) in one patient.
Highlights
Multigene panel testing via next-generation sequencing focuses on the detection of small-sized mutations, such as single nucleotide variants and short insertions and deletions (INDELs)
1234567890():,; 1234567890():,; 1234567890():,; 1234567890():,; Breast cancer is the most common type of cancer among women[1], and approximately 10–15% of the cases are associated with hereditary mutations in DNA repair genes, including BRCA1/22
It has been demonstrated that germline mutations in the genes involved in homologous recombination pathways, such as BARD1, BRCA1, BRCA2, PALB2, and RAD51D, are strongly associated with triple-negative breast cancer[3]
Summary
Chihiro Hata[1], Hirofumi Nakaoka[1], Yu Xiang[2], Dong Wang[3], Anping Yang[4], Dahai Liu[4], Fang Liu[4], Qingfeng Zou[5], Ke Zheng[6], Ituro Inoue[1] and Hua You 3,5,7
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