scholarly journals Phenotypic analysis of familial breast cancer: Comparison of BRCAx tumors with BRCA1-, BRCA2-carriers and non-familial breast cancer

2015 ◽  
Vol 41 (5) ◽  
pp. 641-646 ◽  
Author(s):  
F. Aloraifi ◽  
M. Alshehhi ◽  
T. McDevitt ◽  
N. Cody ◽  
M. Meany ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Familial Breast Cancer ◽  
Phenotypic Analysis ◽  
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 Germline mutations of DICER1 in Chinese women with BRCA1/BRCA2-negative familial breast cancer

2014 ◽  
Vol 13 (4) ◽  
pp. 10754-10760 ◽  
Author(s):  
W.-M. Cao ◽  
Y. Gao ◽  
H.-J. Yang ◽  
S.-N. Xie ◽  
X.-L. Meng ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Familial Breast Cancer ◽  
Chinese Women ◽  
Germline Mutations ◽  
Brca1 Brca2

Gene analysis techniques and susceptibility gene discovery in non-BRCA1/BRCA2 familial breast cancer

2015 ◽  
Vol 24 (2) ◽  
pp. 100-109 ◽  
Author(s):  
Fatima Aloraifi ◽  
Michael R. Boland ◽  
Andrew J. Green ◽  
James G. Geraghty
Keyword(s):  
Breast Cancer ◽  
Familial Breast Cancer ◽  
Susceptibility Gene ◽  
Gene Discovery ◽  
Gene Analysis ◽  
Analysis Techniques ◽  
Brca1 Brca2

scholarly journals Whole Exome Sequencing Suggests Much of Non-BRCA1/BRCA2 Familial Breast Cancer Is Due to Moderate and Low Penetrance Susceptibility Alleles

PLoS ONE ◽  
2013 ◽  
Vol 8 (2) ◽  
pp. e55681 ◽  
Author(s):  
Francisco Javier Gracia-Aznarez ◽  
Victoria Fernandez ◽  
Guillermo Pita ◽  
Paolo Peterlongo ◽  
Orlando Dominguez ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Familial Breast Cancer ◽  
Whole Exome ◽  
Brca1 Brca2

scholarly journals A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes

2002 ◽  
Vol 86 (1) ◽  
pp. 76-83 ◽  
Author(s):  
A C Antoniou ◽  
P D P Pharoah ◽  
G McMullan ◽  
N E Day ◽  
M R Stratton ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Familial Breast Cancer ◽  
Comprehensive Model ◽  
Brca1 Brca2
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