scholarly journals Investigating of variations in BRCA1 gene in Iranian families with breast cancer

2018 ◽  
pp. 507-511
Author(s):  
Amir Mehrgou ◽  
Mansoureh Akouchekian ◽  
Simin Hemati
Keyword(s):  
Breast Cancer ◽  
Brca1 Gene

scholarly journals A Case Report of Germline Compound Heterozygous Mutations in the BRCA1 Gene of an Ovarian and Breast Cancer Patient

2021 ◽  
Vol 22 (2) ◽  
pp. 889
Author(s):  
Ava Kwong ◽  
Cecilia Y. S. Ho ◽  
Vivian Y. Shin ◽  
Chun Hang Au ◽  
Tsun Leung Chan ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Brca1 Gene ◽  
Pathogenic Mutation ◽  
Compound Heterozygous ◽  
Strong Family History ◽  
Breast And Ovarian Cancer ◽  
Pathogenic Mutations ◽  
Increased Risk ◽  
History Of

The germline carrier of the BRCA1 pathogenic mutation has been well proven to confer an increased risk of breast and ovarian cancer. Despite BRCA1 biallelic pathogenic mutations being extremely rare, they have been reported to be embryonically lethal or to cause Fanconi anemia (FA). Here we describe a patient who was a 48-year-old female identified with biallelic pathogenic mutations of the BRCA1 gene, with no or very subtle FA-features. She was diagnosed with ovarian cancer and breast cancer at the ages of 43 and 44 and had a strong family history of breast and gynecological cancers.

scholarly journals Identification of Mutation in Exon11 of BRCA1 Gene in Bangladeshi Patients with Breast Cancer

2019 ◽  
Vol 20 (11) ◽  
pp. 3515-3519
Author(s):  
Latifa Nishat ◽  
Zinnat Ara Yesmin ◽  
Farida Arjuman ◽  
Sufi Hannan Zulfiqar Rahman ◽  
Laila Anjuman Banu
Keyword(s):  
Breast Cancer ◽  
Brca1 Gene

scholarly journals Effect of variation in miRNA-binding site (rs8176318) of the BRCA1 gene in breast cancer patients

2019 ◽  
Vol 49 (5) ◽  
pp. 1433-1438 ◽  
Author(s):  
Mushtaq AHMAD ◽  
Fazal JALIL ◽  
Mutiul HAQ ◽  
Aftab Ali SHAH
Keyword(s):  
Breast Cancer ◽  
Binding Site ◽  
Cancer Patients ◽  
Brca1 Gene ◽  
Mirna Binding Site ◽  
Breast Cancer Patients

scholarly journals Prevalence of BRCA1 and BRCA2 Mutations Among High-Risk Saudi Patients With Breast Cancer

2018 ◽  
pp. JGO.18.00066 ◽  
Author(s):  
Omalkhair Abulkhair ◽  
Mohammed Al Balwi ◽  
Ola Makram ◽  
Lamia Alsubaie ◽  
Medhat Faris ◽  
...  
Keyword(s):  
Breast Cancer ◽  
High Risk ◽  
Novel Mutation ◽  
Brca Mutation ◽  
Brca1 Gene ◽  
Brca1 And Brca2 ◽  
Brca1 Mutations ◽  
Brca2 Mutations ◽  
Brca1 And Brca2 Mutations ◽  
Saudi Patients

Purpose Over the past three decades, the incidence rate of breast cancer (BC) among Arab women has continually increased. However, data on the prevalence of BRCA1/2 mutations are scarce. Although the population in Saudi Arabia is at large homogeneous and consanguinity is common, especially in the central, eastern, and southern regions of the country, the prevalence of BRCA1 and BRCA2 mutations and the characteristics of BC are not well studied in the country. Methods This prospective observational study intended to determine the prevalence of BRCA1 and BRCA2 mutations and sought to examine the clinicopathologic features of BC associated with these mutations. Results Of 310 patients, 270 (87%) had no mutation. BRCA mutations were identified in 40 patients; BRCA1 mutations were found in 11% of patients, and BRCA2 mutations were found in 2% of patients. Variants of unknown significance were found in 15% of patients (45 patients). Triple-negative BC (TNBC) accounted for 86% of all patients with BC and mutations. The following three recurrent deleterious founder BRCA1 mutations were observed: c.4136_4137delCT was observed in five unrelated patients, c.5530delC was observed in three unrelated patients, and c.4524G>A mutations were observed in five unrelated patients. One novel mutation was identified in the BRCA1 gene (c.5512 dup [p.Glu1838Glyfs*42]). Conclusion Among high-risk Saudi patients with BC, BRCA1 mutations are prevalent (11%). TNBC is the most common BC subtype. Furthermore, age alone does not have a significant association with mutation, but a combination of risk factors such as age, familial history, and TNBC has a significant association with BRCA mutation.

862 Association of polymorphisms in BRCA1 gene with breast cancer risk in Bulgarian familial cases

2010 ◽  
Vol 8 (5) ◽  
pp. 217
Author(s):  
R. Dodova ◽  
A. Mitkova ◽  
M. Caulevska ◽  
A. Vlahova ◽  
T. Dikov ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Brca1 Gene ◽  
Familial Cases

BRCA1 gene expression in relation to prognostic parameters of breast cancer

2011 ◽  
Vol 5 (3) ◽  
pp. 149-155
Author(s):  
Manal Kamal ◽  
Yasser H. Shaaban ◽  
Mohamed Shehata ◽  
Amr T. El-Kashif ◽  
Emmad E. Habib ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Gene Expression ◽  
Brca1 Gene ◽  
Prognostic Parameters

scholarly journals Specific BRCA1 gene variations amongst young Moroccan breast cancer patients

2014 ◽  
Vol 13 (1) ◽  
pp. 791-798 ◽  
Author(s):  
A. Tazzite ◽  
S. Nadiffi ◽  
D. Kottwitz ◽  
M. El Amrani ◽  
H. Jouhadi ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Brca1 Gene ◽  
Breast Cancer Patients
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