Identification of the Germline Mutation Profile in Esophageal Squamous Cell Carcinoma by Whole Exome Sequencing

Background: Esophageal squamous cell carcinoma (ESCC) is associated with poor prognosis and occurs with high frequency in China. The germline mutation profile in ESCC remains unclear, and therefore, the discovery of oncogenic alterations in ESCC is urgently needed. This study investigates the germli...

Full description

Bibliographic Details
Published in:	Frontiers in Genetics
Main Authors:	Jiaying Deng, Xiaoling Weng, Junyi Ye, Daizhan Zhou, Yun Liu, Kuaile Zhao
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2019-02-01
Subjects:	whole exome sequencing ESCC germline mutation VUS clinical features
Online Access:	https://www.frontiersin.org/article/10.3389/fgene.2019.00047/full

Similar Items

Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways
by: Halima Alnaqbi, et al.
Published: (2025-07-01)

Whole-Exome Sequencing of Germline Variants in Non-<i>BRCA</i> Families with Hereditary Breast Cancer
by: Yaxuan Liu, et al.
Published: (2022-04-01)

Systematic Analysis of Whole Exome Sequencing Determines RET G691S Polymorphism as Germline Variant in Melanoma
by: Brent J. Smith Jr, et al.
Published: (2017-04-01)

A Novel <i>ARMC5</i> Germline Variant in Primary Macronodular Adrenal Hyperplasia Using Whole-Exome Sequencing
by: Maryam Eghbali, et al.
Published: (2022-12-01)

Characterization and functional analysis of BRCA1 and BRCA2 variants in a cohort of 100 unselected patients undergoing germline screening
by: Qianqian Shi, et al.
Published: (2025-09-01)

An integrated somatic and germline approach to aid interpretation of germline variants of uncertain significance in cancer susceptibility genes
by: Alison Schwartz, et al.
Published: (2022-08-01)

A germline mutation in Rab43 gene identified from a cancer family predisposes to a hereditary liver-colon cancer syndrome
by: Yanting Jiang, et al.
Published: (2019-06-01)

Whole-exome sequencing reveals the etiology of the rare primary hepatic mucoepidermoid carcinoma
by: Ping Hou, et al.
Published: (2021-04-01)

Impact of germline panel size on hereditary cancer: findings of variants of uncertain significance in the Brazilian public health population selected for high hereditary cancer risk
by: Christine Elisabete Rubio Alem, et al.
Published: (2025-09-01)

Assessment of genetic susceptibility to multiple primary cancers through whole-exome sequencing in two large multi-ancestry studies
by: Taylor B. Cavazos, et al.
Published: (2022-10-01)

Germline variants of uncertain significance, their frequency, and clinico-pathological features in a cohort of Sri Lankan patients with hereditary breast cancer
by: Kawmadi Gunawardena, et al.
Published: (2023-06-01)

Development and evaluation of INT2GRATE: a platform for comprehensive assessment of the role of germline variants informed by tumor signature profile in Lynch syndrome
by: Raymond A. Isidro, et al.
Published: (2024-01-01)

Whole exome sequencing: the search for mutations associated with hereditary breast cancer in ethnic groups of Siberia
by: P. A. Gervas, et al.
Published: (2024-11-01)

A comprehensive analysis of germline predisposition to early-onset ovarian cancer
by: Klara Horackova, et al.
Published: (2024-07-01)

Germline Mutations Related to Primary Hyperparathyroidism Identified by Next-Generation Sequencing
by: Hye-Sun Park, et al.
Published: (2022-04-01)

Genetic Counseling, Screening and Risk-Reducing Surgery in Patients with Primary Breast Cancer and Germline BRCA Mutations: Unmet Needs in Low- and Middle-Income Countries
by: Hiba A. Moukadem, et al.
Published: (2022-01-01)

Identification of candidate genes in a family with cancer overload by whole-exome sequencing
by: Demet Akdeniz Ödemiş, et al.
Published: (2022-06-01)

Failure to Identify Somatic Mutations in Monozygotic Twins Discordant for Schizophrenia by Whole Exome Sequencing
by: Nan Lyu, et al.
Published: (2016-01-01)

A germline exome analysis reveals harmful POT1 variants in multiple myeloma patients and families
by: Marja Hakkarainen, et al.
Published: (2022-11-01)

Identification of potential causative gene of anorectal malformation
by: Pongsakorn Choochuen, et al.
Published: (2025-10-01)

Pan-cancer analysis reveals technical artifacts in TCGA germline variant calls
by: Alexandra R. Buckley, et al.
Published: (2017-06-01)

Whole-exome sequencing for a rare case of aldosterone-producing adrenocortical carcinoma
by: WANG Hui-ping, CHANG Xiao-yan, MA Xiao-sen, TONG An-li
Published: (2020-09-01)

Whole exome sequencing analysis for sebaceous carcinoma of the parotid gland
by: Zheng Benrong, Jiang Boxiong, Wang Yina, Yang Maosheng, Liang Yale, Wang Yu’e
Published: (2023-10-01)

Somatic Mutations from Whole Exome Sequencing Analysis of the Patients with Biliary Tract Cancer
by: Kyong-Ah Yoon, et al.
Published: (2018-12-01)

Whole-exome sequencing identified mutational profiles of urothelial carcinoma post kidney transplantation
by: Lee-Moay Lim, et al.
Published: (2022-07-01)

Whole Exome Sequencing Analysis of Good and Bad Prognostic Neuroblastoma Patients (on the Behalf of Turkish Pediatric Oncology Group)
by: Zekiye Altun, et al.
Published: (2018-12-01)

Germline mutations of breast cancer susceptibility genes through expanded genetic analysis in unselected Colombian patients
by: Diana Carolina Sierra-Díaz, et al.
Published: (2024-06-01)

Whole-Exome Sequencing Identifies a Novel CPT2 Mutation in a Pedigree With Gout
by: Yong Guo, et al.
Published: (2022-03-01)

Clinical characteristic of isolated thrombocytopenia in patients with bone marrow failure-related germline variants: a retrospective study from a single centre
by: Nanxi Dong, et al.
Published: (2025-12-01)

Whole-exome sequencing of BRCA-negative breast cancer patients and case–control analyses identify variants associated with breast cancer susceptibility
by: Ning Yuan Lee, et al.
Published: (2022-11-01)

Precise Identification of Recurrent Somatic Mutations in Oral Cancer Through Whole-Exome Sequencing Using Multiple Mutation Calling Pipelines
by: Li-Han Lin, et al.
Published: (2021-11-01)

Landscape of germline pathogenic variants in patients with dual primary breast and lung cancer
by: Ning-Yuan Lee, et al.
Published: (2023-07-01)

Corrigendum: Whole-exome sequencing identifies a novel CPT2 mutation in a pedigree with gout
by: Yong Guo, et al.
Published: (2022-08-01)

Comprehensive Genetic Exploration of Fused Teeth by Whole Exome Sequencing
by: Heetae Park, et al.
Published: (2022-11-01)

Whole-exome profiles of inflammatory breast cancer and pathological response to neoadjuvant chemotherapy
by: François Bertucci, et al.
Published: (2024-10-01)

Resolving inherited and de novo germline predisposing sequence variants by means of whole exome trio analyses in childhood hematological malignancies
by: Triantafyllia Brozou, et al.
Published: (2023-02-01)

Diagnostic impact of whole exome sequencing in neurometabolic disorders in Syrian children: a single center experience
by: Rawan Al Khudari, et al.
Published: (2025-05-01)

Specific genetic aberrations of parathyroid in Chinese patients with tertiary hyperparathyroidism using whole-exome sequencing
by: Lei Li, et al.
Published: (2023-10-01)

Identification of genetic characteristics in pediatric epilepsy with focal cortical dysplasia type 2 using deep whole‐exome sequencing
by: Yan Xu, et al.
Published: (2022-12-01)

Four novel genetic mutations are associated with patent foramen ovale in Tibetan population using whole exome sequencing
by: Hongwei Li, et al.
Published: (2025-08-01)