Cargando…

Prevalence and reclassification of BRCA1 and BRCA2 variants in a large, unselected Chinese Han breast cancer cohort

Accurate interpretation of BRCA1/2 variants is critical for risk assessment and precise treatment of breast cancer (BC). Hence, the establishment of an ethnicity-based BRCA1/2 variant database of the Chinese population is of paramount importance. In this study, panel-based sequencing served to detec...

Descripción completa

Detalles Bibliográficos
Autores principales:	Liu, Yun, Wang, Honglian, Wang, Xin, Liu, Jiaqi, Li, Junjian, Wang, Xiang, Zhang, Yun, Bai, Zhigang, Zhou, Qinghua, Wu, Ying, Shen, Yi, Weng, Xiaoling, Liu, Fatao, Guo, Jiancheng, Di, Lijun, Gires, Olivier, Zhang, Zhongtao, Chen, Yiding, Wang, Hongxia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Letter to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7814423/ https://www.ncbi.nlm.nih.gov/pubmed/33461583 http://dx.doi.org/10.1186/s13045-020-01010-0

Ejemplares similares

Profiling of the germline mutation BRCA1: p.Ile1845fs in a large cohort of Han Chinese breast cancer
por: Wu, Yu, et al.
Publicado: (2019)

Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Greece
por: Koumpis, Chrissovaladis, et al.
Publicado: (2011)

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)

Prevalence of tumor BRCA1 and BRCA2 dysfunction in unselected patients with ovarian cancer
por: Kalachand, Roshni D., et al.
Publicado: (2020)

Predominance of BRCA2 Mutation and Estrogen Receptor Positivity in Unselected Breast Cancer with BRCA1 or BRCA2 Mutation
por: Pujol, Pascal, et al.
Publicado: (2022)

The frequency of the predominant Jewish mutations in BRCA1 and BRCA2 in unselected Ashkenazi colorectal cancer patients
por: Chen-Shtoyerman, R, et al.
Publicado: (2001)

Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from medellín, Colombia
por: Hernández, Julián Esteban Londoño, et al.
Publicado: (2014)

Prevalence of BRCA1 and BRCA2 pathogenic variants in a large, unselected breast cancer cohort
por: Li, Jingmei, et al.
Publicado: (2018)

Prevalence of BRCA1 and BRCA2 germline variants in an unselected pancreatic cancer patient cohort in Pakistan
por: Muhammad, Noor, et al.
Publicado: (2023)

Reclassification of BRCA1 and BRCA2 variants found in ovarian epithelial, fallopian tube, and primary peritoneal cancers
por: Ha, Hyeong In, et al.
Publicado: (2020)

Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls
por: Park, Ji Soo, et al.
Publicado: (2017)

Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients
por: Zhong, Xiaorong, et al.
Publicado: (2016)

Inherited mutations in BRCA1 and BRCA2 in an unselected multiethnic cohort of Asian patients with breast cancer and healthy controls from Malaysia
por: Wen, Wei Xiong, et al.
Publicado: (2018)

Targeted sequencing of BRCA1 and BRCA2 across a large unselected breast cancer cohort suggests that one-third of mutations are somatic
por: Winter, C., et al.
Publicado: (2016)

Reclassification of Five BRCA1/2 Variants with Unknown Significance Using Complex Functional Study
por: Bozsik, Anikó, et al.
Publicado: (2022)

Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants
por: Buchanan, Adam H, et al.
Publicado: (2017)

Spectrum of PALB2 germline mutations and characteristics of PALB2‐related breast cancer: Screening of 16,501 unselected patients with breast cancer and 5890 controls by next‐generation sequencing
por: Zhou, Jiaojiao, et al.
Publicado: (2020)

Cancer risk in relatives of BRCA1/2 pathogenic variant carriers in a large series of unselected patients with breast cancer
por: Liu, Jiaming, et al.
Publicado: (2023)

Correction to: Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants
por: Buchanan, Adam H., et al.
Publicado: (2021)

BRCA genes as candidates for colorectal cancer genetic testing panel: systematic review and meta-analysis
por: Feng, Zhewen, et al.
Publicado: (2023)

Comparison of suspected Lynch syndrome patients carrying BRCA and BRCA‐like variants with Lynch syndrome probands: Phenotypic characteristics and pedigree analyses
por: Xu, Yun, et al.
Publicado: (2020)

BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2
por: Cline, Melissa S., et al.
Publicado: (2018)

Tumor Mutation Burden Forecasts Outcome in Ovarian Cancer with BRCA1 or BRCA2 Mutations
por: Birkbak, Nicolai Juul, et al.
Publicado: (2013)

Functional analysis of BRCT missense mutations in BRCA1-mutated Chinese Han familial breast cancer
por: Zhang, Hong, et al.
Publicado: (2017)

BRCA1/2 mutations, including large genomic rearrangements, among unselected ovarian cancer patients in Korea
por: Kim, Do-Hoon, et al.
Publicado: (2018)

Clinical validation of genomic functional screen data: Analysis of observed BRCA1 variants in an unselected population cohort
por: Schiabor Barrett, Kelly M., et al.
Publicado: (2022)

Identification of Recurrent Variants in BRCA1 and BRCA2 across Multiple Cancers in the Chinese Population
por: Jiang, Yue, et al.
Publicado: (2020)

Evaluation of the Dutch BRCA1/2 clinical genetic center referral criteria in an unselected early breast cancer population
por: van den Broek, Alexandra J, et al.
Publicado: (2015)

Multicenter Phase II Study of Lurbinectedin in BRCA-Mutated and Unselected Metastatic Advanced Breast Cancer and Biomarker Assessment Substudy
por: Cruz, Cristina, et al.
Publicado: (2018)

Association study of newly identified age-related macular degeneration susceptible loci SOD2, MBP, and C8orf42 in Han Chinese population
por: Kan, Mengyuan, et al.
Publicado: (2014)

BRCA locus-specific loss of heterozygosity in germline BRCA1 and BRCA2 carriers
por: Maxwell, Kara N., et al.
Publicado: (2017)

Patterns of recurrence and metastasis in BRCA1/BRCA2‐associated breast cancers
por: Song, Yun, et al.
Publicado: (2019)

Mutational analysis of BRCA1 and BRCA2 in northwest Chinese breast cancer patients
por: Wang, Ting, et al.
Publicado: (2019)

From a variant of unknown significance to pathogenic: Reclassification of a large novel duplication in BRCA2 by high‐throughput sequencing
por: van Luttikhuizen, Jana Lisa, et al.
Publicado: (2019)

Distinct functions of BRCA1 and BRCA2 in double-strand break repair
por: Liu, Yilun, et al.
Publicado: (2002)

Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML
por: Hart, Steven N., et al.
Publicado: (2020)

RAD52 aptamer regulates DNA damage repair and STAT3 in BRCA1/BRCA2-deficient human acute myeloid leukemia
por: Xu, Yichuan, et al.
Publicado: (2020)

BRCA1 and BRCA2 Variation in Taiwanese General Population and the Cancer Cohort
por: Chian, Jiasheng, et al.
Publicado: (2021)

Autoimmune response to PARP and BRCA1/BRCA2 in cancer
por: Zhu, Qing, et al.
Publicado: (2015)

Comprehensive genomic characterization of breast tumors with BRCA1 and BRCA2 mutations
por: Lal, Avantika, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_d2rkevueneaqsdjt752e03s2nr