scholarly journals Mutational analysis of BRCA1 and BRCA2 genes in Spanish women with early-onset breast cancer

2000 ◽  
Vol 2 (S1) ◽  
Author(s):  
JI Martínez-Ferrandis ◽  
A Vega ◽  
P Marín-Garcia ◽  
F Barros ◽  
FJ Chaves ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Early Onset ◽  
Mutational Analysis ◽  
Early Onset Breast Cancer ◽  
Brca1 And Brca2 ◽  
Brca1 And Brca2 Genes ◽  
Spanish Women

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 Mutational analysis ofBRCA1andBRCA2in Mediterranean Spanish women with early-onset breast cancer: Identification of three novel pathogenic mutations

2003 ◽  
Vol 22 (5) ◽  
pp. 417-418 ◽  
Author(s):  
J.I. Martínez-Ferrandis ◽  
A. Vega ◽  
I. Chirivella ◽  
P. Marín-García ◽  
A. Insa ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Early Onset ◽  
Mutational Analysis ◽  
Early Onset Breast Cancer ◽  
Pathogenic Mutations ◽  
Spanish Women

scholarly journals Contribution of BRCA1 and BRCA2 germline mutations to early onset breast cancer: a series from north of Morocco

BMC Cancer ◽  
2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Joaira Bakkach ◽  
Mohamed Mansouri ◽  
Touria Derkaoui ◽  
Ali Loudiyi ◽  
ElMostafa El Fahime ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
Early Onset ◽  
Brca2 Gene ◽  
Germline Mutations ◽  
Genetic Alterations ◽  
Early Onset Breast Cancer ◽  
Brca1 And Brca2 ◽  
Brca Mutations ◽  
History Of

Abstract Background To date, the contribution of BRCA1/2 mutations in Moroccan early onset breast cancer patients remains unknown. Here we assess these genetic alterations for the first time in a cohort from North of Morocco. Methods Thirty-three patients diagnosed with breast cancer at the age of ≤40 years were recruited irrespective of breast and/or ovarian cancer family history. Coding regions and intron-exon boundaries of BRCA1 and BRCA2 genes were sequenced from peripheral blood DNA using Ion Proton (Thermo Fisher Scientific) next generation sequencing platform. Results Overall, five BRCA germline mutations were identified (15.1%). The frequency of mutations among patients with family history of breast cancer was 16.7%. Three mutations were found in BRCA1 (9%) and two within the BRCA2 gene (6%). These are three frameshift mutations (c.798_799del, c.2125_2126insA, c.5116_5119delAATA), one missense (c.116G > A) and one nonsense mutation (c.289G > T). The mutation c.5116_5119delAATA has a founder effect in North Africa. Moreover, one variant of unknown significance was identified in BRCA2 (c.4090A > G). Most BRCA mutations carriers (80%) had no family history of breast cancer. Conclusion Our data do not support the hypothesis that BRCA mutations alone explain the higher frequency of breast cancer in Moroccan young women. The young age (≤40 years) for breast cancer diagnosis seems to be strongly predictive of BRCA mutation status in Moroccan patients. These results will help in decision making with regard to genetic counseling and testing in the national scale.

scholarly journals Familial Risks, Early-Onset Breast Cancer, and BRCA1 and BRCA2 Germline Mutations

2003 ◽  
Vol 95 (6) ◽  
pp. 448-457 ◽  
Author(s):  
G. S. Dite ◽  
M. A. Jenkins ◽  
M. C. Southey ◽  
J. S. Hocking ◽  
G. G. Giles ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Early Onset ◽  
Germline Mutations ◽  
Early Onset Breast Cancer ◽  
Brca1 And Brca2

scholarly journals BRCA1 and BRCA2 Germline Mutations in Malaysian Women with Early-Onset Breast Cancer without a Family History

PLoS ONE ◽  
2008 ◽  
Vol 3 (4) ◽  
pp. e2024 ◽  
Author(s):  
Gaik Theng Toh ◽  
Peter Kang ◽  
Sharlene S. W. Lee ◽  
Daphne Shin-Chi Lee ◽  
Sheau Yee Lee ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
Early Onset ◽  
Germline Mutations ◽  
Early Onset Breast Cancer ◽  
Brca1 And Brca2 ◽  
Malaysian Women
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