scholarly journals The spectrum of BRCA1 gene mutations in early onset breast cancer patients from Russia

2018 ◽  
Vol 17 (4) ◽  
pp. 53-58 ◽  
Author(s):  
M. S. Anisimenko ◽  
G. A. Paul ◽  
A. E. Kozyakov ◽  
N. I. Gutkina ◽  
D. A. Berdyugina ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Clinical Significance ◽  
Early Onset ◽  
Gene Mutations ◽  
Brca1 Gene ◽  
Breast Cancer Patients ◽  
Early Onset Breast Cancer ◽  
Novosibirsk Region ◽  
Pathogenic Mutations

Aim of the study. Aim of the study was to estimate the occurrence of pathogenic mutations in the BRCA1 gene in Russian breast cancer patients.Material and methods. Complete coding sequence of the BRCA1 gene of 445 early onset  breast cancer patients (under 40 years) from Novosibirsk region (Russia) were analyzed by  targeted Next Generation Sequencing (NGS) using Ion Torrent platform. Results. Forty (9%) carriers of various pathogenic mutations were revealed. Thirty five (7,9%) patients  carried 5382insC mutation, described earlier as a founder mutation for Slavic population.  Five (1.1%) patients carried various pathogenic mutations, namely C61G, 462delCC, E143X,  4153delA, and IVS18+1G>T. Besides, 29 genetic variants with no clinical significance or with  unknown clinical significance were detected in BRCA1 gene among 445 early onset breast  cancer patients. Conclusions. Data on the frequency of genetic variations in the BRCA1 gene among early onset breast cancer patients in the Novosibirsk Region (Russia) were  obtained. Proportion of the 5382insC mutation is 87.5% of all pathogenic mutations in the BRCA1 gene found in patients.

Clinical significance of estrogen receptor 1 gene mutations in hormonal resistant breast cancer patients

Gene Reports ◽  
2021 ◽  
pp. 101261
Author(s):  
Reham A. Aboelwafa ◽  
Nermine H. Zakaria ◽  
Neamat Hagazy ◽  
Inas I. Zaki ◽  
Aya S. Rady ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Estrogen Receptor ◽  
Cancer Patients ◽  
Clinical Significance ◽  
Gene Mutations ◽  
Breast Cancer Patients ◽  
Estrogen Receptor 1

Comparison of early onset breast cancer patients to older premenopausal breast cancer patients

2010 ◽  
Vol 282 (4) ◽  
pp. 427-432 ◽  
Author(s):  
Dominic Varga ◽  
Jochem Koenig ◽  
Kathrin Kuhr ◽  
Kathrin Strunz ◽  
Verena Geyer ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Early Onset ◽  
Breast Cancer Patients ◽  
Early Onset Breast Cancer ◽  
Premenopausal Breast Cancer

The BRCA1 and BRCA2 Genes in Early-Onset Breast Cancer Patients

2018 ◽  
pp. 1-12 ◽  
Author(s):  
Mohamed Saleem ◽  
Mohd Bazli Ghazali ◽  
Md Azlan Mohamed Abdul Wahab ◽  
Narazah Mohd Yusoff ◽  
Hakimah Mahsin ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Early Onset ◽  
Breast Cancer Patients ◽  
Early Onset Breast Cancer ◽  
Brca1 And Brca2 ◽  
Brca1 And Brca2 Genes

scholarly journals Analysis of repair of abasic sites in early onset breast cancer patients

2000 ◽  
Vol 85 (1) ◽  
pp. 21-26 ◽  
Author(s):  
Ottavio Rossi ◽  
Fabio Carrozzino ◽  
Enrico Cappelli ◽  
Franca Carli ◽  
Guido Frosina
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Early Onset ◽  
Breast Cancer Patients ◽  
Early Onset Breast Cancer ◽  
Abasic Sites

Does Guideline-Adherent Therapy Improve the Outcome for Early-Onset Breast Cancer Patients?

Oncology ◽  
2010 ◽  
Vol 78 (3-4) ◽  
pp. 189-195 ◽  
Author(s):  
Dominic Varga ◽  
Manfred Wischnewsky ◽  
Ziad Atassi ◽  
Regine Wolters ◽  
Verena Geyer ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Early Onset ◽  
Breast Cancer Patients ◽  
Early Onset Breast Cancer

Hormone Status and Demographics in Early Onset Breast Cancer Patients

2012 ◽  
Vol 78 (7) ◽  
pp. 819-821 ◽  
Author(s):  
Kara E. Friend ◽  
Roger R. Perry ◽  
Jay N. Collins ◽  
Rebecca C. Britt ◽  
Eric C. Feliberti
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Early Onset ◽  
Breast Cancer Patients ◽  
Early Onset Breast Cancer ◽  
Hormone Status

Somatic and germline mutation profiles of Chinese breast cancer patients younger than 35.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. 554-554
Author(s):  
Ning Liao ◽  
Guo-Chun Zhang ◽  
Xiaoqing Chen ◽  
Weikai Xiao ◽  
Jianguo Lai ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cell Cycle ◽  
Cancer Patients ◽  
Germline Mutation ◽  
Early Onset ◽  
Chinese Women ◽  
Germline Mutations ◽  
Breast Cancer Patients ◽  
Early Onset Breast Cancer ◽  
Younger Women

554 Background: Limited studies have investigated the molecular underpinnings driving breast cancer development in Chinese younger women. Based from our previous data, more Chinese women are diagnosed with early-onset breast cancer than in the West. In our study, we aim to investigate the comprehensive mutational profile of Chinese women 35 years old and younger (≤35y) diagnosed with breast cancer. Methods: Targeted sequencing was performed on surgically-removed tumor tissues and blood samples collected from 589 women diagnosed with stage I-III breast cancer of various molecular subtypes at the Guangdong Provincial People’s Hospital (GPDH) using a gene panel interrogating 520 cancer-related genes. We compared the data of 53 women aged ≤35y from our cohort to the data from 33 breast cancer patients aged ≤35y included in The Cancer Genome Atlas (TCGA) dataset. Results: Among the women aged ≤35y with early-stage breast cancer from both cohorts, our cohort had more number of hormone receptor-positive (HR+) patients (GPDH, 72% vs. TCGA, 61%, P< 0.001). Analysis revealed an overall mutation detection rate of 98% in our cohort, with mutations affecting genes involved in the PI3K pathway (47%) and cell cycle pathway (23%). TP53 and PIK3CA were the most commonly mutated genes, with mutation rates of 51% and 25% from our cohort. No statistical difference in mutation profile was found between GPDH and TCGA cohorts. Moreover, germline mutations considered as pathogenic and likely pathogenic (P/LP) in breast cancer susceptibility genes including BRCA1 (n = 4), BRCA2 (n = 2), PALB2 (n = 1), PMS2 (n = 1), PTEN (n = 1), and ATM (n = 1) were detected from 18.9% (10/53) of the patients from our cohort. Women aged ≤35y had significantly more germline BRCA1 mutations than patients > 35y from our cohort (7.5%, 4/53 vs. 2.1%, 11/536 P= 0.049). Conclusions: Our study has identified the involvement of PI3K and cell cycle as the two key pathways in the early development of breast tumors in younger women. In addition, our results also support the role of P/LP germline mutations in breast oncogenesis in Chinese patients with early-onset breast cancer, indicating the need to include a more comprehensive germline mutation screening in our population.

Novel BRCA1 gene mutations in breast cancer patients from St. Petersburg

2007 ◽  
Vol 43 (9) ◽  
pp. 1053-1057
Author(s):  
O. S. Tikhomirova ◽  
N. A. Grudinina ◽  
V. I. Golubkov ◽  
M. Yu. Mandelshtam ◽  
V. B. Vasilyev
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Gene Mutations ◽  
Brca1 Gene ◽  
Breast Cancer Patients
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