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

Abstract 5598: Germline TP53 mutation in very early onset breast cancer patients without BRCA1 and BRCA2 mutation in Brazilian population

2011 ◽  
Author(s):  
Marina C. Cannavan ◽  
Bianca CG Lisboa ◽  
Maria M. Brentani ◽  
Edenir I. Palmero ◽  
Ghyslaine Martel-Planche ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Early Onset ◽  
Tp53 Mutation ◽  
Brca2 Mutation ◽  
Brazilian Population ◽  
Breast Cancer Patients ◽  
Early Onset Breast Cancer ◽  
Brca1 And Brca2 ◽  
Germline Tp53 Mutation

Germline promoter hypermethylation in BRCA1 and BRCA2 genes is not present in hereditary breast cancer patients

2018 ◽  
Vol 20 (9) ◽  
pp. 1226-1231 ◽  
Author(s):  
M. Rodríguez-Balada ◽  
B. Roig ◽  
M. Melé ◽  
M. Salvat ◽  
L. Martorell ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Hereditary Breast Cancer ◽  
Promoter Hypermethylation ◽  
Breast Cancer Patients ◽  
Brca1 And Brca2 ◽  
Brca1 And Brca2 Genes

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

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

scholarly journals Characteristics of BRCA-associated breast cancer in the population of the Russian Federation

2021 ◽  
Author(s):  
EI Novikova ◽  
EA Kudinova ◽  
VK Bozhenko ◽  
VA Solodkiy
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Russian Federation ◽  
False Negative ◽  
Brca2 Gene ◽  
Breast Cancer Patients ◽  
Brca1 And Brca2 ◽  
Coding Regions ◽  
Brca1 And Brca2 Genes ◽  
The Russian Federation

"Standard" diagnostic panels allow identification of only a few of BRCA1 and BRCA2 gene mutations most common in a population. Therefore, tests relying on such panels may return false negative results, since the coding regions of these genes may have other defects. For breast cancer (BC) patients, false negative test results may translate into selection of inadequate therapy by their doctors. This study aimed to identify the features of BRCA-associated breast cancer in the population of the Russian Federation. The study included breast cancer patients (n = 4440). At the first stage, all patients were screened for the eight most common BRCA1 and BRCA2 genes mutations with the help of real-time PCR. Next, patients that exhibited clinical signs of a hereditary disease (CSHD) in the absence of common mutations (n = 290) had the entire coding regions of BRCA1 and BRCA2 genes studied with next generation sequencing (NGS). "Standard" mutations in the BRCA1 and BRCA2 genes were identified in 169 (3.8%) cases. In the CSHD group, such mutations were revealed in 15.4% of cases. NGS uncovered 33 rare pathogenic BRCA1 and BRCA2 gene mutations in 40 out of 290 breast cancer patients (13.8%). It was concluded that among the residents of the Russian Federation, the range of pathogenic variants of BRCA-associated breast cancer is wide, and it stretches beyond the mutations considered by the "standard" diagnostic panels. Analysis of the entire coding regions of BRCA1 and BRCA2 genes allows increasing efficiency of detection of germline mutations in breast cancer patients at least twofold.

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.

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