Abstract P2-05-07: Whole exome sequencing of extreme responders reveals low mutation burden in metastatic breast cancer

2018 ◽  
Author(s):  
J Sohn ◽  
SM Lim ◽  
E Kim ◽  
S Kim ◽  
JS Koo ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Metastatic Breast Cancer ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Metastatic Breast ◽  
Whole Exome ◽  
Mutation Burden

scholarly journals Whole-exome sequencing of long-term, never relapse exceptional responders of trastuzumab-treated HER2+ metastatic breast cancer

2020 ◽  
Vol 123 (8) ◽  
pp. 1219-1222
Author(s):  
Naomi Walsh ◽  
Charlotte Andrieu ◽  
Peter O’Donovan ◽  
Cecily Quinn ◽  
Alanna Maguire ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Metastatic Breast Cancer ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Metastatic Breast ◽  
Whole Exome

Whole exome sequencing (WES) in HER2+ metastatic breast cancer (MBC) patients (pts) with extraordinary responses to trastuzumab (T).

2015 ◽  
Vol 33 (15_suppl) ◽  
pp. 611-611
Author(s):  
Ines Maria Vaz Duarte Luis ◽  
Coyin Oh ◽  
Zhigang Wang ◽  
Pamela Dipiro ◽  
Erin Macrae Macrae ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Metastatic Breast Cancer ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Metastatic Breast ◽  
Whole Exome

scholarly journals Whole exome sequencing of circulating and disseminated tumour cells in patients with metastatic breast cancer

2015 ◽  
Vol 26 ◽  
pp. iii10
Author(s):  
D. Peeters ◽  
A. Brouwer ◽  
K. Op de Beeck ◽  
G. Van de Weyer ◽  
P. Pauwels ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Metastatic Breast Cancer ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Metastatic Breast ◽  
Tumour Cells ◽  
Whole Exome ◽  
Disseminated Tumour Cells

scholarly journals Searching for the missing genetic determinants of hereditary breast cancer risk by whole-exome sequencing of BRCA-negative patients: new candidate genes USP39, SLIT3, CREB3

2021 ◽  
Vol 67 (1) ◽  
pp. 111-116
Author(s):  
Kirill Zagorodnev ◽  
Aleksandr Romanko ◽  
Uliy Gorgul ◽  
Aleksandr Ivantsov ◽  
Anna Sokolenko ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Exome Sequencing ◽  
Candidate Genes ◽  
Whole Exome Sequencing ◽  
Hereditary Breast Cancer ◽  
Germ Line ◽  
Genetic Diagnosis ◽  
Clinical Signs ◽  
Causative Mutation ◽  
Whole Exome

The search for the new hereditary mutations and a precise molecular genetic diagnosis that determines the causative mutation in each specific case of hereditary breast cancer (BC) is a clinically important task since it helps to define the personal therapeutic approach and increase the effectiveness of preventive measures. Using whole-exome sequencing (WES) we analyzed the full spectrum of hereditary variations in 49 Russian patients with clinical signs of a hereditary disease which allowed us to compile a list of 229 candidate probably pathogenic germ-line variants. Then, the selected candidate mutations were validated by Sanger sequencing and molecular-epidemiological studies, the predisposing roles of three oncologically relevant mutations (USP39 c.*208G>C, SLIT3 p.Arg154Cys, and CREB3 p.Lys157Glu) were confirmed. Our candidate genes are first mentioned in connection with the hereditary risk of BC. The final proofs of the causative roles of these variants could be obtained through functional tests as well as via the analysis of the mutations segregation in BC families.

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