Novel loss-of-function mutation in BRCA2 gene identified in a Chinese female with a family history of ovarian cancer: A case report

Dominga Márquez Fernández · Oncology Letters · 2019

Summary

A novel heterozygous insertion in BRCA2 gene, c.3195_3196insA, is discussed, in a 54-year-old Chinese female with hereditary ovarian cancer, which generates a premature stop codon at amino acid 1,076, which leads to a truncated BRC a2 protein instead of a wild-type BRCa2 protein with 3,418 amino acids.

Type: article
Published: 2019-01-21
Cited by: 0
References: 19
Access: Open access
DOI: https://doi.org/10.3892/ol.2019.9950
PubMed: https://pubmed.ncbi.nlm.nih.gov/30867769/
PMC: https://www.ncbi.nlm.nih.gov/pmc/articles/6396105/
OpenAlex: https://openalex.org/W30867769
Semantic Scholar: https://api.semanticscholar.org/CorpusID:76665443

Keywords

Geography

References

Targeted High-Throughput DNA Sequencing for Gene Discovery in Retinitis PigmentosaStephen P. Daiger, Lori S. Sullivan, Sara J. Bowne — 2009
Autosomal dominant inheritance of early‐onset breast cancer. Implications for risk predictionElizabeth B. Claus, Neil Risch, W. Douglas Thompson — 1994
Visualization of image data from cells to organismsThomas Walter, David W. Shattuck, Richard Baldock — 2010
BLOOD AMMONIA AND GLUTAMINE AS PREDICTORS OF HYPERAMMONEMIC CRISES IN UREA CYCLE DISORDER PATIENTSBrendan Lee, George A. Díaz, William J. Rhead — 2014
Individual genomes on the horizon.Richard P. Lifton — 2010
DNA sequence capture and enrichment by microarray followed by next-generation sequencing for targeted resequencing: neurofibromatosis type 1 gene as a model.Lan-Szu Chou, C-S Jonathan Liu, Benjamin Boese — 2010
Simultaneous mutation and copy number variation (CNV) detection by multiplex PCR–based GS‐FLX sequencingD. Goossens, Lotte Moens, Eva Nelis — 2009
BRCA1 and BRCA2: 1994 and beyondSteven A. Narod, William D. Foulkes — 2004
Global cancer statisticsAhmedin Jemal, Freddie Bray, Jacques Ferlay — 2011
Meta-analysis of BRCA1 and BRCA2 penetrance.Sining Chen, Giovanni Parmigiani — 2007
Statistical challenges associated with detecting copy number variations with next-generation sequencingShu Mei Teo, Yudi Pawitan, Chee Seng Ku — 2012
Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE.Nasim Mavaddat, Susan Peock, Debra Frost — 2013
A standardized framework for the validation and verification of clinical molecular genetic testsfor the EuroGentest Validation Group, C. Mattocks, Michael A. Morris — 2010
The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population.Honglin Song, Mine Cicek, Ed Dicks — 2014
Massively parallel sequencing of ataxia genes after array‐based enrichmentAlexander Hoischen, Christian Gilissen, Peer Arts — 2010
Prevalence and spectrum of BRCA germline variants in mainland Chinese familial breast and ovarian cancer patientsYeong C. Kim, Linli Zhao, Hanwen Zhang — 2016
Multigene Panel Testing Detects Equal Rates of Pathogenic BRCA1/2 Mutations and has a Higher Diagnostic Yield Compared to Limited BRCA1/2 Analysis Alone in Patients at Risk for Hereditary Breast CancerNimmi S. Kapoor, Lisa D. Curcio, Carlee A. Blakemore — 2015
BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian CancerNancie Petrucelli, Mary B. Daly, Tuya Pal — 2016

Cited by

No citing papers recorded for this paper.

Related papers

No related papers recorded.