scholarly journals Exome sequencing identifies a recurrent variant in SERPINA3 associating with hereditary susceptibility to breast cancer

2021 ◽  
Vol 143 ◽  
pp. 46-51
Author(s):  
Susanna Koivuluoma ◽  
Anna Tervasmäki ◽  
Saila Kauppila ◽  
Robert Winqvist ◽  
Timo Kumpula ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Exome Sequencing ◽  
Hereditary Susceptibility

Exome sequencing and case-control analyses identify RCC1 as a candidate breast cancer susceptibility gene

2018 ◽  
Author(s):  
A Riahi ◽  
H Radmanesh ◽  
P Schürmann ◽  
N Bogdanova ◽  
R Geffers ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Exome Sequencing ◽  
Cancer Susceptibility ◽  
Susceptibility Gene ◽  
Breast Cancer Susceptibility ◽  
Case Control ◽  
Breast Cancer Susceptibility Gene ◽  
Cancer Susceptibility Gene

Hereditary susceptibility to breast cancer: Significance of age of onset in family history and contribution of and

1999 ◽  
Vol 93 (4) ◽  
pp. S32
Author(s):  
T FRANK ◽  
A DEFFENBAUGH ◽  
M HULICK ◽  
K GUMPPER
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
Age Of Onset ◽  
Hereditary Susceptibility

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.

Hereditary Susceptibility for Triple Negative Breast Cancer Associated With Western Sub-Saharan African Ancestry

2019 ◽  
Vol 270 (3) ◽  
pp. 484-492 ◽  
Author(s):  
Lisa A. Newman ◽  
Brittany Jenkins ◽  
Yalei Chen ◽  
Joseph K. Oppong ◽  
Ernest Adjei ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Triple Negative Breast Cancer ◽  
Triple Negative ◽  
African Ancestry ◽  
Sub Saharan ◽  
Hereditary Susceptibility

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

Abstract S4-03: Exome sequencing reveals clinically actionable mutations in the pathogenesis and metastasis of triple negative breast cancer

2013 ◽  
Author(s):  
KL Blackwell ◽  
EP Hamilton ◽  
PK Marcom ◽  
J Peppercorn ◽  
N Spector ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Exome Sequencing ◽  
Triple Negative Breast Cancer ◽  
Triple Negative

Abstract LB-343: Defining mechanisms of endocrine resistance in breast cancer using whole exome sequencing

2012 ◽  
Author(s):  
Natasha Chandiramani ◽  
Kelly S. Levano ◽  
Esther A. Peterson ◽  
Paraic A. Kenny
Keyword(s):  
Breast Cancer ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Endocrine Resistance ◽  
Whole Exome
Sign in / Sign up

Export Citation Format

Share Document