scholarly journals A screen for germline mutations in the gene encoding CCCTC-binding factor (CTCF) in familial non-BRCA1/BRCA2 breast cancer

2004 ◽  
Vol 6 (3) ◽  
Author(s):  
Xiao-Lei Zhou ◽  
Barbro Werelius ◽  
Annika Lindblom
Keyword(s):  
Breast Cancer ◽  
Germline Mutations ◽  
Gene Encoding ◽  
Binding Factor ◽  
Brca1 Brca2

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.

ATM germline mutations in Spanish early-onset breast cancer patients negative for BRCA1/BRCA2 mutations

2008 ◽  
Vol 73 (5) ◽  
pp. 465-473 ◽  
Author(s):  
J Brunet ◽  
S Gutiérrez-Enríquez ◽  
A Torres ◽  
V Bérez ◽  
S Sanjosé ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Early Onset ◽  
Germline Mutations ◽  
Breast Cancer Patients ◽  
Early Onset Breast Cancer ◽  
Brca2 Mutations ◽  
Brca1 Brca2

Variations of DICER1 sequence in Chinese women with BRCA1/BRCA2 negative familial breast cancer.

2013 ◽  
Vol 31 (15_suppl) ◽  
pp. e12557-e12557
Author(s):  
Wenming Cao ◽  
Yun Gao ◽  
Hongjian Yang ◽  
Shang-Nao Xie ◽  
Xuli Meng ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Familial Breast Cancer ◽  
Genetic Model ◽  
Germline Mutations ◽  
Pleuropulmonary Blastoma ◽  
Breast Cancers ◽  
Deleterious Mutations ◽  
Cancer Susceptibility Genes ◽  
Increased Risk ◽  
Brca1 Brca2

e12557 Background: Germline mutations in identified breast cancer susceptibility genes account for less than 20% of Chinese familial breast cancers. Dicer is an essential component of the microRNA producing machinery and germline mutations of DICER1 gene have been confirmed in familial pleuropulmonary blastoma, ovarian sex cord-stromal tumor and so on. Moreover, low expression of DICER1 is frequently detected in breast cancer. However, whether germline mutations of DICER1 occur in familial breast cancers remains unknown. Methods: 65 breast cancer probands from BRCA1/BRCA2 negative Chinese breast cancer families were used for screening of germline mutations in DICER1. In addition, 100 unrelated healthy females were enrolled as the controls. Polymerase chain reaction (PCR)-sequencing assay was employed to screen mutations in the entire coding regions and exon-intron boundaries of DICER1. Genotype and haplotype analyses were studied by widely available programs. Results: No deleterious mutations were identified in the 65 breast cancer probands. However, we found 12 germline variations and 4 of which were novel. In addition, the G allele frequency of rs2297730 (IVS12-91 A>G) was higher in familial breast cancer patients group than that in healthy controls group (OR = 1.873, 95% CI: 1.174-2.988, P = 0.008), and the A/G genotype were significantly associated with familial breast cancer (OR = 3.133; 95% CI: 1.562-6.287, P = 0.004). According to the minimum value of Akaike’s Information Criterion (AIC), the best genetic model was dominant. In addition, the haplotype GCGGAT was significantly associated with familial breast cancer (OR = 2.17, 95% CI: 1.20-3.91, P = 0.011). Conclusions: Although none of deleterious mutations were identified in the DICER1 gene, the current study provided a haplotype analysis of the DICER1 gene polymorphisms. We showed a significantly increased risk of BRCA1/BRCA2 negative familial breast cancer for DICER1 IVS12-91 A>G variant. It might be a potential risk marker for breast cancer in thus population.

scholarly journals BRCA1/BRCA2 germline mutations and chemotherapy-related hematological toxicity in breast cancer patients

2018 ◽  
Vol 29 ◽  
pp. viii76
Author(s):  
A. Friedlaender ◽  
A. Vuillemier ◽  
V. Viassolo ◽  
A. Ayme ◽  
S. De Talhouet ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Germline Mutations ◽  
Hematological Toxicity ◽  
Breast Cancer Patients ◽  
Brca1 Brca2
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