scholarly journals Germline mutation analyses of malignant ground glass opacity nodules in non-smoking lung adenocarcinoma patients

PeerJ ◽  
2021 ◽  
Vol 9 ◽  
pp. e12048
Author(s):  
Wenjun Mao ◽  
Ruo Chen ◽  
Rongguo Lu ◽  
Shengfei Wang ◽  
Huizhu Song ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Germline Mutation ◽  
Health Management ◽  
Ground Glass Opacity ◽  
Germline Mutations ◽  
Ground Glass ◽  
High Risk Population ◽  
Whole Exome ◽  
Mutation Analyses

Background Germline mutations play an important role in the pathogenesis of lung cancer. Nonetheless, research on malignant ground glass opacity (GGO) nodules is limited. Methods A total of 13 participants with malignant GGO nodules were recruited in this study. Peripheral blood was used for exome sequencing, and germline mutations were analyzed using InterVar. The whole exome sequencing dataset was analyzed using a filtering strategy. KOBAS 3.0 was used to analyze KEGG pathway to further identify possible deleterious mutations. Results There were seven potentially deleterious germline mutations. NM_001184790:exon8: c.C1070T in PARD3, NM_001170721:exon4:c.C392T in BCAR1 and NM_001127221:exon46: c.G6587A in CACNA1A were present in three cases each; rs756875895 frameshift in MAX, NM_005732: exon13:c.2165_2166insT in RAD50 and NM_001142316:exon2:c.G203C in LMO2, were present in two cases each; one variant was present in NOTCH3. Conclusions Our results expand the germline mutation spectrum in malignant GGO nodules. Importantly, these findings will potentially help screen the high-risk population, guide their health management, and contribute to their clinical treatment and determination of prognosis.

Whole-exome sequencing reveals potential germline and somatic mutations in 60 malignant ovarian germ cell tumors

2021 ◽  
Author(s):  
Juan Chen ◽  
Yan Li ◽  
Jianlei Wu ◽  
Yakun Liu ◽  
Shan Kang
Keyword(s):  
Germ Cell ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Peripheral Blood ◽  
Copy Number ◽  
Somatic Mutations ◽  
Germ Cell Tumors ◽  
Germline Mutations ◽  
Deletion Region ◽  
Whole Exome

Abstract Background Malignant ovarian germ cell tumors (MOGCTs) are rare and heterogeneous ovary tumors. We aimed to identify potential germline mutations and somatic mutations in MOGCTs by whole-exome sequencing. Methods The peripheral blood and tumor samples from these patients were used to identify germline mutations and somatic mutations, respectively. For those genes corresponding to copy number alterations (CNA) deletion and duplication region, functional annotation of was performed. Immunohistochemistry was performed to evaluate the expression of mutated genes corresponding to CNA deletion region. Results In peripheral blood, copy number loss and gain were mostly found in yolk sac tumors (YST). Moreover, POU5F1 was the most significant mutated gene with mutation frequency > 10% in both CNA deletion and duplication region. In addition, strong cytoplasm staining of POU5F1 (corresponding to CNA deletion region) was found in 2 YST and nuclear staining in 2 dysgerminomas (DG) tumor samples. Genes corresponding to CNA deletion region were significantly enriched in the signaling pathway of regulating pluripotency of stem cells. In addition, genes corresponding to CNA duplication region were significantly enriched in the signaling pathways of RIG-I-like receptor, Toll-like receptor, NF-kappa B and Jak–STAT. KRT4, RPL14, PCSK6, PABPC3 and SARM1 mutations were detected in both peripheral blood and tumor samples. Conclusions Identification of potential germline mutations and somatic mutations in MOGCTs may provide a new field in understanding the genetic feature of the rare biological tumor type in the ovary.

Determination of genetic changes in etiology of autism spectrum disorder in twins by whole-exome sequencing

Gene Reports ◽  
2020 ◽  
Vol 19 ◽  
pp. 100618
Author(s):  
Ceyda Hayretdag ◽  
Pinar Algedik ◽  
Cumhur Gokhan Ekmekci ◽  
Ozlem Bozdagi Gunal ◽  
Umut Agyuz ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Genetic Changes ◽  
Whole Exome

Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity

2020 ◽  
Vol 40 (5) ◽  
pp. 729-740 ◽  
Author(s):  
Tsubasa Okano ◽  
Kohsuke Imai ◽  
Takuya Naruto ◽  
Satoshi Okada ◽  
Motoi Yamashita ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Germline Mutations ◽  
Inborn Errors ◽  
Inborn Errors Of Immunity ◽  
Whole Exome

scholarly journals Whole-Exome Sequencing Enables Rapid Determination of Xeroderma Pigmentosum Molecular Etiology

PLoS ONE ◽  
2013 ◽  
Vol 8 (6) ◽  
pp. e64692 ◽  
Author(s):  
Oscar Ortega-Recalde ◽  
Jéssica Inés Vergara ◽  
Dora Janeth Fonseca ◽  
Xiomara Ríos ◽  
Hernando Mosquera ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Xeroderma Pigmentosum ◽  
Rapid Determination ◽  
Whole Exome ◽  
Molecular Etiology

scholarly journals Whole exome sequencing for determination of tumor mutation load in liquid biopsy from advanced cancer patients

PLoS ONE ◽  
2017 ◽  
Vol 12 (11) ◽  
pp. e0188174 ◽  
Author(s):  
Florence Koeppel ◽  
Steven Blanchard ◽  
Cécile Jovelet ◽  
Bérengère Genin ◽  
Charles Marcaillou ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Cancer Patients ◽  
Whole Exome Sequencing ◽  
Advanced Cancer ◽  
Liquid Biopsy ◽  
Mutation Load ◽  
Advanced Cancer Patients ◽  
Whole Exome

scholarly journals Erratum: Whole-exome sequencing identifies germline mutation in TP53 and ATRX in a child with genomically aberrant AT/RT and her mother with anaplastic astrocytoma

2018 ◽  
Vol 4 (3) ◽  
pp. a003129
Author(s):  
Kristiina Nordfors ◽  
Joonas Haapasalo ◽  
Ebrahim Afyounian ◽  
Joonas Tuominen ◽  
Matti Annala ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Germline Mutation ◽  
Anaplastic Astrocytoma ◽  
Whole Exome

scholarly journals Metastatic colorectal cancer and severe hypocalcemia following irinotecan administration in a patient with X-linked agammaglobulinemia: a case report

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Mingming Li ◽  
Wei Chen ◽  
Xiaomeng Sun ◽  
Zhipeng Wang ◽  
Xun Zou ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Therapeutic Drug Monitoring ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Drug Monitoring ◽  
Treatment Cycle ◽  
Germline Mutations ◽  
Therapeutic Drug ◽  
Immune Disorder ◽  
Whole Exome

Abstract Background X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disorder caused by germline mutations in the Bruton tyrosine kinase (BTK) gene on X chromosome. These mutations disturb B-cell development, decrease immunoglobulin levels, increase susceptibility to infection or neoplasms, and increase the risk of developing colorectal cancer (CRC). For occasional cases of CRC have been reported in XLA patients, low levels of B lymphocytes and immunoglobulins induced by congenital immune disorder make them more susceptible to drug-related toxicities (DRT). Therefore, gene sequencing, therapeutic drug monitoring and any possible measurement to predict DRT should be considered before determining the course of chemotherapy for XLA patients with CRC. Case presentation In this study, we reported a 21-year-old male who developed metastatic CRC in the context of XLA. Since the whole exome sequencing and therapeutic drug monitoring did not reveal any predictive markers of DRT, we applied standard first-line chemotherapy to the patient. However, progressive disease occurred after the fifth treatment cycle. Therefore, the administration of oxaliplatin was changed to irinotecan as second-line therapy. After that, the patient firstly suffered from severe hypocalcemia and eventually died due to metastatic CRC after the eighth treatment cycle. The overall survival time was 7.5 months. Conclusions This study reported the first written record of a Chinese XLA patient with metastatic CRC and severe hypocalcemia. Whole exome sequencing and bioinformatic analysis indicated the somatic mutations in ABCA6, C6 and PAX3 genes might contribute to the early-onset and metastasis CRC. Besides, a number of germline mutations in genes related to calcium metabolism (CACNA2D4, CD36, etc.) and the administration of irinotecan were speculated to be the causes of severe hypocalcemia. We therefore suggested that in order to avoid severe DRT, clinicians should take genetic background and therapeutic drug monitoring into consideration while planning chemotherapy treatment for XLA patients with CRC.

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