Abstract P2-07-03: High-throughput germline mutation screening for hereditary breast cancer in southern Chinese patients by massively parallel DNA sequencing

2013 ◽  
Author(s):  
A Kwong ◽  
CH Au ◽  
FB Law ◽  
DN Ho ◽  
BK Ip ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Dna Sequencing ◽  
High Throughput ◽  
Germline Mutation ◽  
Hereditary Breast Cancer ◽  
Mutation Screening ◽  
Massively Parallel ◽  
Chinese Patients ◽  
Southern Chinese ◽  
Massively Parallel Dna Sequencing

scholarly journals WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis

PLoS ONE ◽  
2018 ◽  
Vol 13 (3) ◽  
pp. e0193359 ◽  
Author(s):  
Masafumi Kobayashi ◽  
Maiko Miyagawa ◽  
Shin-ya Nishio ◽  
Hideaki Moteki ◽  
Taro Fujikawa ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Dna Sequencing ◽  
Mutation Screening ◽  
Large Series ◽  
Massively Parallel ◽  
Massively Parallel Dna Sequencing

scholarly journals Detection of a novel mutation in exon 20 of the BRCA1 gene

2013 ◽  
Vol 18 (4) ◽  
Author(s):  
Abhijit Chakraborty ◽  
Atul Katarkar ◽  
Keya Chaudhuri ◽  
Ashis Mukhopadhyay ◽  
Jayasri Basak
Keyword(s):  
Breast Cancer ◽  
Tumor Suppressor ◽  
Hereditary Breast Cancer ◽  
Tumor Suppressor Genes ◽  
Novel Mutation ◽  
Mutation Screening ◽  
Brct Domain ◽  
Globular Domain ◽  
Suppressor Genes ◽  
Exon 20

AbstractHereditary breast cancer constitutes 5–10% of all breast cancer cases. Inherited mutations in the BRCA1 and BRCA2 tumor-suppressor genes account for the majority of hereditary breast cancer cases. The BRCA1 C-terminal region (BRCT) has a functional duplicated globular domain, which helps with DNA damage repair and cell cycle checkpoint protein control. More than 100 distinct BRCA1 missense variants with structural and functional effects have been documented within the BRCT domain. Interpreting the results of mutation screening of tumor-suppressor genes that can have high-risk susceptibility mutations is increasingly important in clinical practice. This study includes a novel mutation, p.His1746 Pro (c.5237A>C), which was found in BRCA1 exon 20 of a breast cancer patient. In silico analysis suggests that this mutation could alter the stability and orientation of the BRCT domain and the differential binding of the BACH1 substrate.

Novel OTOF gene mutations identified using a massively parallel DNA sequencing technique in DFNB9 deafness

2018 ◽  
Vol 138 (10) ◽  
pp. 865-870 ◽  
Author(s):  
Yanfei Wang ◽  
Yu Lu ◽  
Jing Cheng ◽  
Lei Zhang ◽  
Dongyi Han ◽  
...  
Keyword(s):  
Dna Sequencing ◽  
Gene Mutations ◽  
Massively Parallel ◽  
Sequencing Technique ◽  
Massively Parallel Dna Sequencing

scholarly journals Systematic identification of personal tumor-specific neoantigens in chronic lymphocytic leukemia

Blood ◽  
2014 ◽  
Vol 124 (3) ◽  
pp. 453-462 ◽  
Author(s):  
Mohini Rajasagi ◽  
Sachet A. Shukla ◽  
Edward F. Fritsch ◽  
Derin B. Keskin ◽  
David DeLuca ◽  
...  
Keyword(s):  
Chronic Lymphocytic Leukemia ◽  
Dna Sequencing ◽  
Lymphocytic Leukemia ◽  
Class I ◽  
Massively Parallel ◽  
Central Tolerance ◽  
Key Points ◽  
Tumor Specificity ◽  
Massively Parallel Dna Sequencing ◽  
Systematic Identification

Key Points Tumor neoantigens are a promising class of immunogens based on exquisite tumor specificity and the lack of central tolerance against them. Massively parallel DNA sequencing with class I prediction enables systematic identification of tumor neoepitopes (including from CLL).

scholarly journals Novel ACTG1 mutations in patients identified by massively parallel DNA sequencing cause progressive hearing loss

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Hiroki Miyajima ◽  
Hideaki Moteki ◽  
Timothy Day ◽  
Shin-ya Nishio ◽  
Takaaki Murata ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Dna Sequencing ◽  
Massively Parallel ◽  
Progressive Hearing Loss ◽  
Massively Parallel Dna Sequencing

A portrait of germline mutation in Brazilian at-risk for hereditary breast cancer

2018 ◽  
Vol 172 (3) ◽  
pp. 637-646 ◽  
Author(s):  
Ana Rafaela de Souza Timoteo ◽  
Ana Élida Menezes Magalhães Gonçalves ◽  
Lucas Amadeus Porpino Sales ◽  
Betina Menezes Albuquerque ◽  
Jorge Estefano Santana de Souza ◽  
...  
Keyword(s):  
Breast Cancer ◽  
At Risk ◽  
Germline Mutation ◽  
Hereditary Breast Cancer
Sign in / Sign up

Export Citation Format

Share Document