Cargando…

Identification of a novel germline BRCA2 variant in a Chinese breast cancer family

Breast cancer is the most frequently diagnosed cancer and the leading cause of cancer‐related deaths in women worldwide. In this study, a large Chinese pedigree with breast cancer including a proband and two female patients was recruited and a familial history of breast cancer was collected by quest...

Descripción completa

Detalles Bibliográficos
Autores principales:	Cheng, Jingliang, Peng, Jiangzhou, Fu, Jiewen, Khan, Md. Asaduzzaman, Tan, Pingping, Wei, Chunli, Deng, Xiyun, Chen, Hanchun, Fu, Junjiang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6991642/ https://www.ncbi.nlm.nih.gov/pubmed/31782247 http://dx.doi.org/10.1111/jcmm.14861

Ejemplares similares

Novel compound heterozygous nonsense variants, p.L150* and p.Y3565*, of the USH2A gene in a Chinese pedigree are associated with Usher syndrome type IIA
por: Fu, Jiewen, et al.
Publicado: (2020)

A novel missense variant c.G644A (p.G215E) of the RPGR gene in a Chinese family causes X-linked retinitis pigmentosa
por: Fu, Jiewen, et al.
Publicado: (2019)

A novel splicing mutation in the PRPH2 gene causes autosomal dominant retinitis pigmentosa in a Chinese pedigree
por: Cheng, Jingliang, et al.
Publicado: (2019)

Targeted Next-Generation Sequencing Identified Novel Compound Heterozygous Variants in the CDH23 Gene Causing Usher Syndrome Type ID in a Chinese Patient
por: Zhang, Lianmei, et al.
Publicado: (2020)

Thymoquinone Inhibits the Migration and Invasive Characteristics of Cervical Cancer Cells SiHa and CaSki In Vitro by Targeting Epithelial to Mesenchymal Transition Associated Transcription Factors Twist1 and Zeb1
por: Li, Jun, et al.
Publicado: (2017)

Evaluation of amplification refractory mutation system (ARMS) technique for quick and accurate prenatal gene diagnosis of CHM variant in choroideremia
por: Yang, Lisha, et al.
Publicado: (2017)

A novel, homozygous nonsense variant of the CDHR1 gene in a Chinese family causes autosomal recessive retinal dystrophy by NGS‐based genetic diagnosis
por: Fu, Jiewen, et al.
Publicado: (2018)

Genetic Polymorphism Analysis of 24 Y-STRs in a Han Chinese Population in Luzhou, Southwest China
por: Fu, Jiewen, et al.
Publicado: (2023)

Novel splicing variant c. 208+2T>C in BBS5 segregates with Bardet–Biedl syndrome in an Iranian family by targeted exome sequencing
por: Imani, Saber, et al.
Publicado: (2019)

Prostate adenocarcinoma and COVID‐19: The possible impacts of TMPRSS2 expressions in susceptibility to SARS‐CoV‐2
por: Cheng, Jingliang, et al.
Publicado: (2021)

Novel compound heterozygous EYS variants may be associated with arRP in a large Chinese pedigree
por: Wei, Chunli, et al.
Publicado: (2020)

A case of Usher syndrome type IIA caused by a rare USH2A homozygous frameshift variant with maternal uniparental disomy (UPD) in a Chinese family
por: Fu, Jiewen, et al.
Publicado: (2020)

Roles of MicroRNA-34a in Epithelial to Mesenchymal Transition, Competing Endogenous RNA Sponging and Its Therapeutic Potential
por: Nie, Dongsong, et al.
Publicado: (2019)

Expressions and significances of the angiotensin-converting enzyme 2 gene, the receptor of SARS-CoV-2 for COVID-19
por: Fu, Jiewen, et al.
Publicado: (2020)

Novel, heterozygous, de novo pathogenic variant (c.4963delA: p.Thr1656Glnfs*42) of the NF1 gene in a Chinese family with neurofibromatosis type 1
por: Yang, Lisha, et al.
Publicado: (2023)

Thymoquinone inhibits cancer metastasis by downregulating TWIST1 expression to reduce epithelial to mesenchymal transition
por: Khan, Md. Asaduzzaman, et al.
Publicado: (2015)

Effect of DPP4/CD26 expression on SARS-CoV-2 susceptibility, immune response, adenosine (derivatives m(6)(2)A and CD) regulations on patients with cancer and healthy individuals
por: Du, Jiaman, et al.
Publicado: (2023)

Identification of a Novel Heterozygous Missense Mutation in the CACNA1F Gene in a Chinese Family with Retinitis Pigmentosa by Next Generation Sequencing
por: Zhou, Qi, et al.
Publicado: (2015)

Tripartite motif containing 28 (TRIM28) promotes breast cancer metastasis by stabilizing TWIST1 protein
por: Wei, Chunli, et al.
Publicado: (2016)

Cordycepin Inhibits Triple-Negative Breast Cancer Cell Migration and Invasion by Regulating EMT-TFs SLUG, TWIST1, SNAIL1, and ZEB1
por: Wei, Chunli, et al.
Publicado: (2022)

New progresses on cell surface protein HSPA5/BiP/GRP78 in cancers and COVID-19
por: Li, Ting, et al.
Publicado: (2023)

Thymoquinone upregulates IL17RD in controlling the growth and metastasis of triple negative breast cancer cells in vitro
por: Khan, Md. Asaduzzaman, et al.
Publicado: (2022)

Genetic identification and molecular modeling characterization reveal a novel PROM1 mutation in Stargardt4-like macular dystrophy
por: Imani, Saber, et al.
Publicado: (2017)

Genetic Authentication of Gardenia jasminoides Ellis var. grandiflora Nakai by Improved RAPD-Derived DNA Markers
por: Mei, Zhiqiang, et al.
Publicado: (2015)

A novel homozygous variant of GPR98 causes usher syndrome type IIC in a consanguineous Chinese family by next generation sequencing
por: Wei, Chunli, et al.
Publicado: (2018)

Genetic Polymorphism and Population Genetic Structure Analysis of 21 Autosomal STR Loci for a Han-Chinese Population from Luzhou of Southwest China
por: Song, Binghui, et al.
Publicado: (2023)

Prevalence and spectrum of BRCA germline variants in mainland Chinese familial breast and ovarian cancer patients
por: Kim, Yeong C., et al.
Publicado: (2016)

Novel germline mutations and unclassified variants of BRCA1 and BRCA2 genes in Chinese women with familial breast/ovarian cancer
por: Cao, Wen-Ming, et al.
Publicado: (2016)

MicroRNA-34a targets epithelial to mesenchymal transition-inducing transcription factors (EMT-TFs) and inhibits breast cancer cell migration and invasion
por: Imani, Saber, et al.
Publicado: (2017)

COVID-19 disease and malignant cancers: The impact for the furin gene expression in susceptibility to SARS-CoV-2
por: Li, Dabing, et al.
Publicado: (2021)

TQFL12, a novel synthetic derivative of TQ, inhibits triple‐negative breast cancer metastasis and invasion through activating AMPK/ACC pathway
por: Wei, Chunli, et al.
Publicado: (2021)

Evaluation and characterization of HSPA5 (GRP78) expression profiles in normal individuals and cancer patients with COVID-19
por: Fu, Jiewen, et al.
Publicado: (2021)

Germline variants profiling of BRCA1 and BRCA2 in Chinese Hakka breast and ovarian cancer patients
por: Zhang, Yunuo, et al.
Publicado: (2022)

The speckle-type POZ protein (SPOP) inhibits breast cancer malignancy by destabilizing TWIST1
por: Wei, Chunli, et al.
Publicado: (2022)

Thymoquinone, as an anticancer molecule: from basic research to clinical investigation
por: Asaduzzaman Khan, Md., et al.
Publicado: (2017)

Genetic polymorphism of 19 autosomal STR loci in the Yi ethnic minority of Liangshan Yi autonomous prefecture from Sichuan province in China
por: Cheng, Jingliang, et al.
Publicado: (2021)

Whole-Exome Sequencing of Germline Variants in Non-BRCA Families with Hereditary Breast Cancer
por: Liu, Yaxuan, et al.
Publicado: (2022)

Antiviral Potential of Small Molecules Cordycepin, Thymoquinone, and N6, N6-Dimethyladenosine Targeting SARS-CoV-2 Entry Protein ADAM17
por: He, Jiayue, et al.
Publicado: (2022)

Epigenetic modification and a role for the E3 ligase RNF40 in cancer development and metastasis
por: Fu, Junjiang, et al.
Publicado: (2020)

Molecular cloning and development of RAPD-SCAR markers for Dimocarpus longan variety authentication
por: Yang, Luquan, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_u1k2lo4us66l0269it9f3n84na