scholarly journals Contribution of BRCA1 and BRCA2 Germline Mutations to Early Algerian Breast Cancer

2016 ◽  
Vol 2016 ◽  
pp. 1-7 ◽  
Author(s):  
Sarra Henouda ◽  
Assia Bensalem ◽  
Rym Reggad ◽  
Nedda Serrar ◽  
Leila Rouabah ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Young Women ◽  
Significant Proportion ◽  
Case Series ◽  
Germline Mutations ◽  
Genomic Rearrangement ◽  
Brca1 And Brca2 ◽  
Exon 2 ◽  
Large Genomic Rearrangement ◽  
Algerian Population

Breast cancer is the most common female malignancy and the leading cancer mortality cause among Algerian women. Germline mutations in the BRCA1 and BRCA2 genes in patients with early-onset breast cancer have not been clearly identified within the Algerian population. It is necessary to study the BRCA1/2 genes involvement in the Algerian breast cancer occurrence. We performed this study to define germline mutations in BRCA1/2 and their implication in breast cancer among young women from eastern Algeria diagnosed or treated with primary invasive breast cancer at the age of 40 or less who were referred to Anti-Cancer Center of Setif, Algeria. Case series were unselected for family history. Eight distinct pathogenic mutations were identified in eight unrelated families. Three deleterious mutations and one large genomic rearrangement involving deletion of exon 2 were found in BRCA1 gene. In addition, four mutations within the BRCA2 gene and one large genomic rearrangement were identified. Novel mutation was found among Algerian population. Moreover, five variants of uncertain clinical significance and favor polymorphisms were identified. Our data suggest that BRCA1/2 mutations are responsible for a significant proportion of breast cancer in Algerian young women.

Large Genomic Rearrangement in BRCA1 and BRCA2 and Clinical Characteristics of Men with Breast Cancer in the United States

2007 ◽  
Vol 7 (8) ◽  
pp. 627-633 ◽  
Author(s):  
Julia Tchou ◽  
M. Renee Ward ◽  
Patricia Volpe ◽  
Maurizia Dalla Palma ◽  
C. Angelina Medina ◽  
...  
Keyword(s):  
Breast Cancer ◽  
United States ◽  
Clinical Characteristics ◽  
The United States ◽  
Genomic Rearrangement ◽  
Brca1 And Brca2 ◽  
Large Genomic Rearrangement

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 Clinical outcome of breast cancer in carriers of BRCA1 and BRCA2 mutations according to molecular subtypes

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Solene De Talhouet ◽  
Julien Peron ◽  
Aurelie Vuilleumier ◽  
Alex Friedlaender ◽  
Valeria Viassolo ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Disease Free Survival ◽  
Germline Mutations ◽  
Brca1 And Brca2 ◽  
Free Survival ◽  
Entire Cohort ◽  
Dna Damaging Agents ◽  
Impact On Survival ◽  
Brca1 Brca2 ◽  
Brca1 And Brca2 Mutations

Abstract BRCA1/BRCA2 genes play a central role in DNA repair and their mutations increase sensitivity to DNA-damaging agents. There are conflicting data regarding the prognostic value of BRCA germline mutations in breast cancer (BC) patients. We collected clinical, pathological and genetic data of a cohort 925 BC patients preselected for genetic screening and treated with neoadjuvant or adjuvant chemotherapy, of whom 266 were BRCA carriers. Overall, 171 women carried a BRCA1 mutation, 95 carried a BRCA2 mutation, and 659 were non-carriers. In the entire cohort, there was a prolonged disease-free survival (DFS) for BRCA carriers (hazard ratio (HR) = 0.63; 95% confidence interval (CI), 0.44–0.90 for BRCA1; HR = 0.72; 95%CI, 0.47–1.1 for BRCA2; p = 0.020) and a trend toward prolonged disease-specific survival (DSS; HR = 0.65; 95%CI, 0.40–1.1 for BRCA1; HR = 0.78; 95%CI, 0.44–1.38 for BRCA2; p = 0.19) though not statistically significant. In the TNBC group, BRCA carriers had prolonged DFS (adjusted HR = 0.50; 95%CI, 0.28–0.89 for BRCA1; adjusted HR = 0.37; 95%CI, 0.11–1.25, for BRCA2; p = 0.034) and DSS (adjusted HR = 0.42; 95%CI, 0.21–0.82 for BRCA1; adjusted HR = 0.45; 95%CI, 0.11–1.9 for BRCA2; p = 0.023). In the non-TNBC group, the BRCA1 or BRCA2 mutations did not have any impact on survival. These results suggest that BRCA1/BRCA2 germline mutations are associated with prolonged survival only if women were diagnosed with TNBC.

Full Molecular Screening for Colon Cancer Patients of Familial/ Highly Inherited Germline Mutations in BRCA1 and BRCA2

2021 ◽  
Author(s):  
Dalal S. Alshaya ◽  
Tahani Mohamed Al-Hazani ◽  
Mashael Alhumaidi Alotaibi ◽  
Dalia Mostafa Domiaty ◽  
Alaa Ali AlQahtani ◽  
...  
Keyword(s):  
Colon Cancer ◽  
Germline Mutations ◽  
Nucleotide Sequencing ◽  
Positive Staining ◽  
Molecular Screening ◽  
Brca1 And Brca2 ◽  
Exon 2 ◽  
Saudi Family ◽  
Exon 11 ◽  
Inherited Mutations

Abstract Background: There is evidence of increasing number of early colon cancer cases among young people in many countries. The objective of this research is to assess the inherited germinal mutations in all BRCA2and BRCA1 coding areas in four consanguineous cases’ generations from a single Saudi family having occurrence of colon cancer. Methods: This research examines a single Saudi family through four generations from Riyadh, Saudi Arabia. This family have diagnosed with colon cancer and inherited germline mutations in BRCA1 and BRCA2. The examination was conducted by DNA sequencing for the whole coding sections of BRCA1 and BRCA2. In addition, the colon samples were immunohistochemically and histologically analyzed utilizing BRCA1&2 antibodies and H&E staining, respectively.Results: 21 scenarios at-risk consanguineous cases were mutations carried in the BRCA genes (2 BRCA2 and 4 BRCA1) and comprised of 3 affected consanguineous cases having malignant cancer of the colon. The BRCA nucleotide sequencing revealed a substantial mutations’ cases within the genes of BRCA1 (frameshift mutations situated within exon 11 and exon 2 while there were no such mutations within the BRCA2 genes). A novel replacement mutation within BRCA2 (exon 18) 139 C > A was obtained (45.83%) in females whereas it was (31.26%) in males. Immunohistochemical staining showed positive staining for BRCA1 and BRCA2. Conclusion: The key reason that led to colon cancer incidences among them is highly inherited mutations of germline in BRCA2 and BRCA1 through repeated endogamy between consanguineous cases who carry these mutations.

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 Association of Cytokeratin 5 and Claudin 3 expression with BRCA1 and BRCA2 germline mutations in women with early breast cancer

BMC Cancer ◽  
2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Sabine Danzinger ◽  
Yen Yen Tan ◽  
Margaretha Rudas ◽  
Marie-Theres Kastner ◽  
Sigrid Weingartshofer ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Early Breast Cancer ◽  
Germline Mutations ◽  
Brca1 And Brca2 ◽  
Cytokeratin 5

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

A breast cancer patient from Italy with germline mutations in both the BRCA1 and BRCA2 genes

2005 ◽  
Vol 91 (2) ◽  
pp. 203-205 ◽  
Author(s):  
Antonino Musolino ◽  
Nadia Naldi ◽  
Maria Michiara ◽  
Maria A. Bella ◽  
Paola Zanelli ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patient ◽  
Breast Cancer Patient ◽  
Germline Mutations ◽  
Brca1 And Brca2 ◽  
Brca1 And Brca2 Genes

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

scholarly journals Breast cancer in young women: prevalence of LOH at p53, BRCA1 and BRCA2

10.1186/bcr96 ◽  
2000 ◽  
Vol 2 (S1) ◽  
Author(s):  
SM Johnson ◽  
JA Shaw ◽  
RA Walker
Keyword(s):  
Breast Cancer ◽  
Young Women ◽  
Brca1 And Brca2
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