Allele Imbalance or Loss of Heterozygosity, in Normal Appearing Breast Epithelium as a Novel Biomarker to Predict Future Breast Cancer

2011 ◽  
Author(s):  
Carol L. Rosenberg
Keyword(s):  
Breast Cancer ◽  
Loss Of Heterozygosity ◽  
Breast Epithelium ◽  
Allele Imbalance

Allele Imbalance, or Loss of Heterozygosity, in Normal Breast Epithelium of Sporadic Breast Cancer Cases and BRCA1 Gene Mutation Carriers Is Increased Compared With Reduction Mammoplasty Tissues

2005 ◽  
Vol 23 (34) ◽  
pp. 8613-8619 ◽  
Author(s):  
Pamela S. Larson ◽  
Benjamin L. Schlechter ◽  
Antonio de las Morenas ◽  
Judy E. Garber ◽  
L. Adrienne Cupples ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Risk ◽  
Gene Mutation ◽  
Loss Of Heterozygosity ◽  
Sporadic Breast Cancer ◽  
Brca1 Gene ◽  
Reduction Mammoplasty ◽  
Breast Epithelium ◽  
Brca1 Gene Mutation ◽  
Allele Imbalance

Purpose Normal-appearing breast epithelium can contain genetic abnormalities, including allele imbalance (AI), also referred to as loss of heterozygosity. Whether abnormalities are associated with cancer or cancer risk is unknown. Patients and Methods We performed a miniallelotype, using 20 microsatellites, on each of 460 histologically normal, microdissected breast terminal ducto-lobular units (TDLUs) from three groups of women: sporadic breast cancer patients (SP; n = 18), BRCA1 gene mutation carriers (BRCA1; n = 16), and controls undergoing reduction mammoplasty (RM; n = 18). We analyzed the results using Fisher's exact tests, logistic regression, and generalized estimating equations. Results AI was increased three-fold in SP and BRCA1 groups compared with RM. Both the number of TDLUs with AI increased (eight [5%] of 162 in the RM group compared with 24 [15%] of 162 in the SP and 22 [16%] of 136 in the BRCA1 groups; P = .0150), and the proportion of patients with AI increased (five [28%] of 18 in the RM group compared with 15 [83%] of 18 in the SP and 13 [81%] of 16 in the BRCA1 groups; P = .0007). The adjusted odds ratios (OR) for AI in TDLU increased in SP (OR = 15.5) and BRCA1 (OR = 13.7) patients compared with RM (P = .0025). This result was particularly evident on chromosome 17q (P = .0393), where more AI was seen in BRCA1 (OR = 12.4) than in SP (OR = 4.9) patients or RM controls. Conclusion Increased prevalence of AI in normal-appearing epithelium is associated with breast cancer and increased breast cancer risk. The increased prevalence may reflect dysregulation, even in normal-appearing epithelium, of genomic processes contributing to cancer development. The clinical significance of genetic alterations in the subset of controls remains to be determined.

scholarly journals Loss of Heterozygosity in Benign Breast Epithelium in Relation to Breast Cancer Risk

2002 ◽  
Vol 94 (11) ◽  
pp. 858-860 ◽  
Author(s):  
D. M. Euhus ◽  
L. Cler ◽  
N. Shivapurkar ◽  
S. Milchgrub ◽  
G. N. Peters ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Loss Of Heterozygosity ◽  
Breast Epithelium

Mutation Mechanisms of Breast Cancer among the Female Population in China

2020 ◽  
Vol 15 (3) ◽  
pp. 253-259
Author(s):  
Asmaa Amer ◽  
Ahmed Nagah ◽  
Tianhai Tian ◽  
Xinan Zhang
Keyword(s):  
Breast Cancer ◽  
Gene Mutations ◽  
Driver Mutations ◽  
Human Breast ◽  
Breast Epithelium ◽  
Female Population ◽  
Multistage Model ◽  
The Usa ◽  
Intermediate Cells ◽  
Mutation Mechanisms

Background: Cancer is a genetic disease caused by the accumulation of gene mutations. It is important to derive the number of driver mutations that are needed for the development of human breast cancer, which may provide insights into the tumor diagnosis and therapy. Objective: This work is designed to investigate whether there is any difference for the mutation mechanism of breast cancer between the patients in the USA and those in China. We study the mechanisms of breast cancer development in China, and then compare these mechanisms with those in the USA. Methods: This work designed a multistage model including both gene mutation and clonal expansion of intermediate cells to fit the dataset of breast cancer in China from 2004 to 2009. Results: Our simulation results show that the maximum number of driver mutations for breast epithelium stem cells of females in China is 13 which is less than the 14 driver mutations of females in the USA. In addition, the two-hit model is the optimal one for the tumorigenesis of females in China, which is also different from the three-hit model that was predicted as the optimal model for the tumorigenesis of females in the USA. Conclusion: The differences of the mutation mechanisms between China and the USA reflect a variety of lifestyle, genetic influences, environmental exposure, and the availability of mammography screening.

Melatonin and Associated Signaling Pathways that Control Normal Breast Epithelium and Breast Cancer

2011 ◽  
Vol 16 (3) ◽  
pp. 235-245 ◽  
Author(s):  
Steven M. Hill ◽  
David E. Blask ◽  
Shulin Xiang ◽  
Lin Yuan ◽  
Lulu Mao ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Signaling Pathways ◽  
Normal Breast ◽  
Breast Epithelium ◽  
Normal Breast Epithelium

scholarly journals DNA Methylation in Benign Breast Epithelium in Relation to Age and Breast Cancer Risk

2008 ◽  
Vol 17 (5) ◽  
pp. 1051-1059 ◽  
Author(s):  
David M. Euhus ◽  
Dawei Bu ◽  
Sara Milchgrub ◽  
Xian-Jin Xie ◽  
Aihua Bian ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Dna Methylation ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Breast Epithelium
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