scholarly journals Analysis of PTEN in two BRCA1 and BRCA2 wild-type familial breast cancer patients

2015 ◽  
Vol 20 (6) ◽  
pp. 629
Author(s):  
Mansoureh Akouchekian ◽  
Simin Hemati ◽  
ZohrehAtaei Kachoei
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Familial Breast Cancer ◽  
Breast Cancer Patients ◽  
Wild Type ◽  
Brca1 And Brca2

scholarly journals BRCA1 and BRCA2 genes mutations among high risk breast cancer patients in Jordan

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Munir Abu-Helalah ◽  
Belal Azab ◽  
Rasmi Mubaidin ◽  
Dema Ali ◽  
Hanan Jafar ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Familial Breast Cancer ◽  
Cancer Surveillance ◽  
Breast Cancer Patients ◽  
Brca1 And Brca2 ◽  
Genetic Profiling ◽  
Delay In Diagnosis ◽  
Jordanian Population ◽  
Pathogenic Mutations

Abstract Familial breast cancer is estimated to account for 15–20% of all cases of breast cancer. Surveillance for familial breast cancer is well-established world-wide. However, this service does not exist in Jordan, due to the scarcity of information with regard to the genetic profiling of these patients, and therefore lack of recommendations for policy-makers. As such, patients with very strong family history of breast or ovarian cancers are not screened routinely; leading to preventable delay in diagnosis. Whole coding sequencing for BCRA1/BCRA2 using next-generation sequencing (NGS)/Ion PGM System was performed. Sanger sequencing were then used to confirm the pathogenic variants detected by NGS. In this study, 192 breast cancer patients (and 8 ovarian cancer cases) were included. The prevalence of recurrent pathogenic mutations was 14.5%, while the prevalence of newly detected mutations was 3.5%. Two novel pathogenic mutations were identified in BRCA2 genes. The common mutations in the Ashkenazi population used for screening may not apply in the Jordanian population, as previously reported mutations were not prevalent, and other new mutations were identified. These data will aid to establish a specific screening test for BRCA 1/BRCA2 in the Jordanian population.

scholarly journals Novel Germline Mutations of BRCA1 and BRCA2 in Korean Familial Breast Cancer Patients

2019 ◽  
Vol 55 (2) ◽  
pp. 99
Author(s):  
Hee Nam Kim ◽  
Min-Ho Shin ◽  
Ran Lee ◽  
Min-Ho Park ◽  
Sun-Seog Kweon
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Familial Breast Cancer ◽  
Germline Mutations ◽  
Breast Cancer Patients ◽  
Brca1 And Brca2

Large genomic rearrangement of BRCA1 and BRCA2 genes in familial breast cancer patients in Korea

2014 ◽  
Vol 13 (2) ◽  
pp. 205-211 ◽  
Author(s):  
Ja Young Cho ◽  
Dae-Yeon Cho ◽  
Sei Hyun Ahn ◽  
Su-Youn Choi ◽  
Inkyung Shin ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Familial Breast Cancer ◽  
Genomic Rearrangement ◽  
Breast Cancer Patients ◽  
Brca1 And Brca2 ◽  
Large Genomic Rearrangement ◽  
Brca1 And Brca2 Genes

scholarly journals Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon

2012 ◽  
Vol 10 (1) ◽  
Author(s):  
Nadine Jalkh ◽  
Jinane Nassar-Slaba ◽  
Eliane Chouery ◽  
Nabiha Salem ◽  
Nancy Uhrchammer ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Familial Breast Cancer ◽  
Breast Cancer Patients ◽  
Brca1 And Brca2 ◽  
Brca2 Mutations ◽  
Brca1 And Brca2 Mutations

scholarly journals Prevalence of RECQL germline variants in Pakistani early-onset and familial breast cancer patients

2020 ◽  
Vol 18 (1) ◽  
Author(s):  
Muhammad Usman Rashid ◽  
Noor Muhammad ◽  
Faiz Ali Khan ◽  
Umara Shehzad ◽  
Humaira Naeemi ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Early Onset ◽  
Familial Breast Cancer ◽  
High Performance ◽  
Breast Cancer Patients ◽  
Germline Variants ◽  
Variants Of Unknown Significance ◽  
Breast Cancer Predisposition ◽  
Novel Variants

Abstract Background The RecQ Like Helicase (RECQL) gene has previously been shown to predispose to breast cancer mainly in European populations, in particular to estrogen receptor (ER) and/or progesterone receptor (PR) positive tumor. Here, we investigated the contribution of pathogenic RECQL germline variants to hereditary breast cancer in early-onset and familial breast cancer patients from Pakistan. Methods Comprehensive RECQL variant analysis was performed in 302 BRCA1 and BRCA2 negative patients with ER and/or PR positive breast tumors using denaturing high-performance liquid chromatography followed by DNA sequencing. Novel variants were classified using Sherloc guidelines. Results One novel pathogenic protein-truncating variant (p.W75*) was identified in a 37-year-old familial breast cancer patient. The pathogenic variant frequencies were 0.3% (1/302) in early-onset and familial breast cancer patients and 0.8% (1/133) in familial patients. Further, three novel variants of unknown significance, p.I141F, p.S182S, and p.C475C, were identified in familial breast cancer patients at the age of 47, 68, and 47 respectively. All variants were absent in 250 controls. Conclusions Our data suggest that the RECQL gene plays a negligible role in breast cancer predisposition in Pakistan.

Sign in / Sign up

Export Citation Format

Share Document