Cargando…

Case Report: Coinheritance of Germline Mutations in APC and BRCA1 in Colorectal Cancer

Deleterious mutations in APC gene cause the autosomal dominant familial adenomatous polyposis (FAP) which is typically characterized by the occurrence of hundreds to thousands of colorectal adenomas that eventually lead to colorectal cancers (CRCs). BRCA1/2 are the two major susceptibility genes for...

Descripción completa

Detalles Bibliográficos
Autores principales:	Huang, Wei, Bian, Jin, Qian, Xiaoping, Shao, Lin, Li, Haiyan, Zhang, Lu, Wang, Lin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Oncology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8030582/ https://www.ncbi.nlm.nih.gov/pubmed/33842374 http://dx.doi.org/10.3389/fonc.2021.658389

Ejemplares similares

Coinheritance of germline mutations in APC and MUTYH genes defines the clinical outcome of adenomatous polyposis syndromes
por: Forte, Giovanna, et al.
Publicado: (2022)

Analysis of BRCA Germline Mutations in Chinese Prostate Cancer Patients
por: Chen, Wei, et al.
Publicado: (2022)

Overview on population screening for carriers with germline BRCA mutation in China
por: Lei, Huijun, et al.
Publicado: (2022)

Heterozygous APC germline mutations impart predisposition to colorectal cancer
por: Preisler, Livia, et al.
Publicado: (2021)

Genomic Profiling Comparison of Germline BRCA and Non-BRCA Carriers Reveals CCNE1 Amplification as a Risk Factor for Non-BRCA Carriers in Patients With Triple-Negative Breast Cancer
por: Huang, Xin, et al.
Publicado: (2020)

Germline and Somatic BRCA1/2 Mutations in 172 Chinese Women With Epithelial Ovarian Cancer
por: You, Yan, et al.
Publicado: (2020)

Case Report Series: Aggressive HR Deficient Colorectal Cancers Related to BRCA1 Pathogenic Germline Variants
por: Freire, Maria Valeria, et al.
Publicado: (2022)

Statin Treatment as a Targeted Therapy for APC-Mutated Colorectal Cancer
por: Shailes, Hannah, et al.
Publicado: (2022)

Case Report: Co-Existence of BRCA2 and PALB2 Germline Mutations in Familial Prostate Cancer With Solitary Lung Metastasis
por: Tang, Tang, et al.
Publicado: (2020)

First-decade patient with colorectal cancer carrying both germline and somatic mutations in APC gene
por: Yeh, Yung-Sung, et al.
Publicado: (2017)

Pancreatic Cancer with Mutation in BRCA1/2, MLH1, and APC Genes: Phenotype Correlation and Detection of a Novel Germline BRCA2 Mutation
por: Vietri, Maria Teresa, et al.
Publicado: (2022)

Landscape of germline BRCA1/BRCA2 variants in breast and ovarian cancer in Peru
por: Ferreyra, Yomali, et al.
Publicado: (2023)

Disseminated Medulloblastoma in a Child with Germline BRCA2 6174delT Mutation and without Fanconi Anemia
por: Xu, Jingying, et al.
Publicado: (2015)

Characterization of somatic mutations of colorectal tumor in a patient with concurrent APC and MLH1 germline mutations
por: Cheng, Yunsheng, et al.
Publicado: (2023)

Effect and Safety of Therapeutic Regimens for Patients With Germline BRCA Mutation-Associated Breast Cancer: A Network Meta-Analysis
por: Jiang, Ying, et al.
Publicado: (2021)

Coinheritance of beta-thalassemia minor and hereditary pyropoikilocytosis: case report
por: Naoum, Flávio Augusto, et al.
Publicado: (2020)

Metastatic colorectal cancer as the primary phenotype in a hereditary breast and ovarian cancer patient with Germline BRCA1 mutation: a case report
por: Liu, Ying, et al.
Publicado: (2022)

The odds and implications of coinheritance of hemophilia A and B
por: Karch, Corinne, et al.
Publicado: (2020)

Effects of Neoadjuvant Chemotherapy in Ovarian Cancer Patients With Different Germline BRCA1/2 Mutational Status: A Retrospective Cohort Study
por: Fu, Mengdi, et al.
Publicado: (2022)

Quantitative Analysis of BRCA1 and BRCA2 Germline Splicing Variants Using a Novel RNA-Massively Parallel Sequencing Assay
por: Farber-Katz, Suzette, et al.
Publicado: (2018)

Case Report: A Pancreatic Ductal Adenocarcinoma Patient With Concurrent Targetable Somatic Novel KANK1-ALK, UPP2-NTRK3 Fusion, and Pathogenetic Germline BRCA Mutation
por: Meng, Fan, et al.
Publicado: (2021)

Tumor Testing for Somatic and Germline BRCA1/BRCA2 Variants in Ovarian Cancer Patients in the Context of Strong Founder Effects
por: Peixoto, Ana, et al.
Publicado: (2020)

Molecular Trajectory of BRCA1 and BRCA2 Mutations
por: Hatano, Yuichiro, et al.
Publicado: (2020)

The germline mutational landscape of BRCA1 and BRCA2 in Brazil
por: Palmero, Edenir Inêz, et al.
Publicado: (2018)

Investigation of pathogenic mechanisms in multiple colorectal adenoma patients without germline APC or MYH/MUTYH mutations
por: Thirlwell, C, et al.
Publicado: (2007)

Prevalence and Spectrum of Germline BRCA1 and BRCA2 Variants of Uncertain Significance in Breast/Ovarian Cancer: Mysterious Signals From the Genome
por: Fanale, Daniele, et al.
Publicado: (2021)

Plasma Metabolome Signature Indicative of BRCA1 Germline Status Independent of Cancer Incidence
por: Penkert, Judith, et al.
Publicado: (2021)

Germline Profiling and Molecular Characterization of Early Onset Metastatic Colorectal Cancer
por: Xu, Ting, et al.
Publicado: (2020)

BRCA1 germline mutation and glioblastoma development: report of cases
por: Boukerroucha, Meriem, et al.
Publicado: (2015)

Clinical Benefit With PARP Inhibitor for Pathogenic Germline FANCA-Mutated Relapsed Epithelial Ovarian Cancer: A Case Report
por: Qian, Bing, et al.
Publicado: (2022)

Coinheritance of B-Thalassemia and Sickle Cell Anaemia in Southwestern Nigeria
por: Vincent, Osunkalu, et al.
Publicado: (2016)

Erratum: Prevalence and Spectrum of Germline BRCA1 and BRCA2 Variants of Uncertain Significance in Breast/Ovarian Cancer: Mysterious Signals From the Genome
Publicado: (2022)

BRCA1 and BRCA2 germline mutation analysis in the Indonesian population
por: Purnomosari, Dewajani, et al.
Publicado: (2007)

Evaluation of models to predict BRCA germline mutations
por: Kang, H H, et al.
Publicado: (2006)

A Case of Adult Pancreatoblastoma With Novel APC Mutation and Genetic Heterogeneity
por: Suemitsu, Yamato, et al.
Publicado: (2021)

Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer
por: Zeng, Bing, et al.
Publicado: (2021)

Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease
por: Lennon, Rachel, et al.
Publicado: (2015)

Adolescent triple-negative breast cancer with germline pathogenic variants in both BRCA1 and TP53 genes: A case report
por: Chen, Dongmei, et al.
Publicado: (2022)

Germline Mutational Landscape in Chinese Patients With Advanced Breast Cancer
por: Zhang, Jiayang, et al.
Publicado: (2022)

Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer
por: Chen, Bo, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_jul8vtrhfodueel5hvoh96ih3p