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.

scholarly journals Modeling the pathway of breast cancer in the Middle East

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Asmaa Amer ◽  
Ahmed Nagah ◽  
Mojeeb AL-Rahman El-Nor Osman ◽  
Abdul Majid
Keyword(s):  
Breast Cancer ◽  
Stem Cells ◽  
Middle East ◽  
Female Breast Cancer ◽  
Driver Mutations ◽  
Data Set ◽  
Egyptian Women ◽  
Set Up ◽  
Intermediate Cells ◽  
Mutation Mechanisms

Abstract This paper proposed an approach for the identification of mutation mechanisms of breast cancer in women in four member countries of the Middle East Cancer Consortium i.e. Egypt, Jordan, Cyprus and Israel (Arabs and Jews). We set up multistage models including both gene mutation and the clonal expansion of intermediate cells. We fit the data-set related to the incidence of female breast cancer in the four member countries. Our simulation results show that the maximum number of driver mutations of breast epithelium stem cells of Egyptian women is 13, whereas there are 14 driver mutations in the genome of stem cells of female patients in Jordan, Cyprus and Israel (Arabs and Jews). In addition, the 3, 10, 5, 5 and 4 stage models are the optimal ones for the tumorigenesis of females in Egypt, Jordan, Cyprus, Israel (Arabs) and Israel (Jews), respectively. The genomic instability is caused by first three driver mutations.

scholarly journals NHERF (Na+/H+ Exchanger Regulatory Factor) gene mutations in human breast cancer

Oncogene ◽  
2004 ◽  
Vol 23 (53) ◽  
pp. 8681-8687 ◽  
Author(s):  
Jia Le Dai ◽  
Lei Wang ◽  
Aysegul A Sahin ◽  
Lyle D Broemeling ◽  
Mieke Schutte ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Human Breast Cancer ◽  
Gene Mutations ◽  
Human Breast ◽  
Regulatory Factor ◽  
Factor Gene

Fine-Needle Aspiration Is Suitable for Breast Cancer BRCA Molecular Assessment: A Case Report

2021 ◽  
Vol 2 (4) ◽  
pp. 319-324
Author(s):  
Francesco Pepe ◽  
Pasquale Pisapia ◽  
Gianluca Russo ◽  
Mariantonia Nacchio ◽  
Elena Vigliar ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Surgical Resection ◽  
Fine Needle Aspiration ◽  
Gene Mutations ◽  
Needle Aspiration ◽  
Left Breast ◽  
Female Population ◽  
Fine Needle ◽  
Molecular Assessment ◽  
Allelic Fraction

Breast cancer is the most common cause of cancer-related deaths in the female population worldwide. To the best of our knowledge, breast cancer (BRCA)1/2 gene mutations have not been described yet on breast cancer cytological specimens. Here we describe the case of a 38-year old woman with a family and personal history for breast cancer, who underwent a fine needle aspiration (FNA) procedure for a novel 30 mm lesion located in the external quadrants of the contralateral (left) breast. Cytological findings and ancillary immunostaining confirmed the diagnosis of a triple negative NST carcinoma. BRCA1/2 molecular assessment was carried out on DNA extracted from cytological (November 2020), biopsy (December 2014) and surgical resection (July 2015) specimens, as well as on the resection of a benign fibroadenoma, by using a next generation sequencing approach. Molecular analysis showed a pathogenic BRCA1 insertion (c.5266dupC; p.Q1756PfsTer74) in the cytological specimen (allelic fraction 92.0%), biopsy (allelic fraction 84.2%), surgical resection (allelic fraction 87.8%) and fibroadenoma (58.9%), demonstrating a germinal BRCA mutated status.

Mutation Mechanisms of Human Breast Cancer

2018 ◽  
Vol 25 (4) ◽  
pp. 396-404 ◽  
Author(s):  
Lingling Li ◽  
Tianhai Tian ◽  
Xinan Zhang
Keyword(s):  
Breast Cancer ◽  
Human Breast Cancer ◽  
Human Breast ◽  
Mutation Mechanisms

scholarly journals Somatic Mutation of PIK3CA (H1047R) Is a Common Driver Mutation Hotspot in Canine Mammary Tumors as Well as Human Breast Cancers

Cancers ◽  
2019 ◽  
Vol 11 (12) ◽  
pp. 2006 ◽  
Author(s):  
Kang-Hoon Lee ◽  
Hyeon-Ji Hwang ◽  
Hyun Ji Noh ◽  
Tae-Jin Shin ◽  
Je-Yoel Cho
Keyword(s):  
Breast Cancer ◽  
Human Cancer ◽  
Association Studies ◽  
Cell Metabolism ◽  
Driver Mutations ◽  
Genome Wide Association Studies ◽  
Breast Cancers ◽  
Human Breast ◽  
Normal Tissues ◽  
Whole Exome

Breast cancer is one of the most frequently diagnosed cancers in both women and female dogs. Genome-wide association studies in human breast cancer (HBC) have identified hundreds of genetic variations and somatic driver mutations. However, only a handful of variants have been studied for rare HBC and their associations remain inconclusive. Spontaneous canine mammary tumor (CMT) is a great model for HBC, with clinical similarity. We thus performed whole-exome sequencing in 20 pairs of CMT and normal tissues in dogs. We newly found that PIK3CA was the most frequently mutated gene in CMT (45%). Furthermore, canine PIK3CA A3140G (H1047R), at what is known as the mutational hotspot of HBC, is also a hotspot in CMT. Targeted sequencing confirmed that 29% of CMTs had the same PIK3CA A3140G mutation. Integration of the transcriptome suggests that the PIK3CA (H1047R) induced cell metabolism and cell cycle via an increase of PCK2 and a decrease of CDKN1B but had no effect on cell apoptosis. We identified additional significantly mutated genes, including SCRN1 and CLHC1, which have not been reported in HBC. Our study recapitulated some known HBC-associated genes and human cancer signatures in CMT, and identified novel genes that may be relevant to HBC. This study may allow us to better understand both HBC and CMT and lend new insights into the development of biomarkers.

scholarly journals Tissue Specific DNA Methylation in Normal Human Breast Epithelium and in Breast Cancer

PLoS ONE ◽  
2014 ◽  
Vol 9 (3) ◽  
pp. e91805 ◽  
Author(s):  
Ayelet Avraham ◽  
Sean Soonweng Cho ◽  
Ronit Uhlmann ◽  
Mia Leonov Polak ◽  
Judith Sandbank ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Dna Methylation ◽  
Human Breast ◽  
Breast Epithelium ◽  
Tissue Specific ◽  
Normal Human Breast ◽  
Normal Human

The molecular epidemiology of P53 gene mutations in human breast cancer

1997 ◽  
Vol 13 (1) ◽  
pp. 27-33 ◽  
Author(s):  
Arndt Hartmann ◽  
Hagen Blaszyk ◽  
John S. Kovach ◽  
Steve S. Sommer
Keyword(s):  
Breast Cancer ◽  
Molecular Epidemiology ◽  
Human Breast Cancer ◽  
Gene Mutations ◽  
P53 Gene ◽  
Human Breast ◽  
P53 Gene Mutations

scholarly journals Four human breast cancer cell lines with biallelic inactivating α-catenin gene mutations

2009 ◽  
Vol 122 (1) ◽  
pp. 125-133 ◽  
Author(s):  
Antoinette Hollestelle ◽  
Fons Elstrodt ◽  
Mieke Timmermans ◽  
Anieta M. Sieuwerts ◽  
Jan G. M. Klijn ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cell Lines ◽  
Cancer Cell ◽  
Breast Cancer Cell ◽  
Human Breast Cancer ◽  
Gene Mutations ◽  
Cancer Cell Lines ◽  
Human Breast Cancer Cell ◽  
Breast Cancer Cell Lines ◽  
Human Breast

scholarly journals Regulation of autophagy by microRNAs in human breast cancer

2021 ◽  
Vol 28 (1) ◽  
Author(s):  
Zhi Xiong Chong ◽  
Swee Keong Yeap ◽  
Wan Yong Ho
Keyword(s):  
Breast Cancer ◽  
Treatment Response ◽  
Cancer Progression ◽  
Mammalian Cells ◽  
Human Breast Cancer ◽  
Solid Cancer ◽  
Human Breast ◽  
Female Population

AbstractBreast cancer is the most common solid cancer that affects female population globally. MicroRNAs (miRNAs) are short non-coding RNAs that can regulate post-transcriptional modification of multiple downstream genes. Autophagy is a conserved cellular catabolic activity that aims to provide nutrients and degrade un-usable macromolecules in mammalian cells. A number of in vitro, in vivo and clinical studies have reported that some miRNAs could modulate autophagy activity in human breast cancer cells, and these would influence human breast cancer progression and treatment response. Therefore, this review was aimed to discuss the roles of autophagy-regulating miRNAs in influencing breast cancer development and treatment response. The review would first introduce autophagy types and process, followed by the discussion of the roles of different miRNAs in modulating autophagy in human breast cancer, and to explore how would this miRNA-autophagy regulatory process affect the disease progression or treatment response. Lastly, the potential applications and challenges of utilizing autophagy-regulating miRNAs as breast cancer biomarkers and novel therapeutic agents would be discussed.

Sign in / Sign up

Export Citation Format

Share Document