scholarly journals High Levels of Chromosomal Copy Number Alterations and TP53 Mutations Correlate with Poor Outcome in Younger Breast Cancer Patients

2020 ◽  
Vol 190 (8) ◽  
pp. 1643-1656
Author(s):  
Ayla Koçak ◽  
Kerstin Heselmeyer-Haddad ◽  
Annette Lischka ◽  
Daniela Hirsch ◽  
David Fiedler ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Copy Number ◽  
Copy Number Alterations ◽  
Breast Cancer Patients ◽  
Tp53 Mutations ◽  
Poor Outcome ◽  
Chromosomal Copy Number ◽  
Chromosomal Copy

Copy Number Analysis of the DLX4 and ERBB2 Genes in South African Breast Cancer Patients

2015 ◽  
Vol 146 (3) ◽  
pp. 195-203 ◽  
Author(s):  
Bridget C. Langa ◽  
Márcia M.C. Oliveira ◽  
Silma R.F. Pereira ◽  
Kamil Lupicki ◽  
Catalin Marian ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
South African ◽  
Copy Number ◽  
Linear Regression Analysis ◽  
African Women ◽  
Racial Groups ◽  
Western Cape ◽  
Copy Number Alterations ◽  
Breast Cancer Patients

Breast cancer is one of the main causes of cancer death among South African women. Although several risk factors can be attributed to the observed high mortality rate, the biology of the tumors is not extensively investigated. Copy number gain of the DLX4 homeobox gene has been observed in breast cancer in association with poor prognosis and specific racial groups. Therefore, we aimed to assess the copy number and prognostic role of DLX4 in breast cancer from South African patients. Due to the co-location of ERBB2 and DLX4 in the 17q21 region, its copy number was also evaluated. Our results in the analysis of 66 cases demonstrated copy number gains of DLX4 and ERBB2 in 24.1 and 29.7% of the cases, respectively. Linear regression analysis showed no dependency between the copy number alterations in these genes. Although not significant, patients with DLX4 and ERBB2 gains presented a higher frequency of advanced-grade tumors. In addition, copy number alterations of these genes were not significantly differently observed in the 3 main racial groups of the Western Cape population: Colored, White, and Black. These findings indicate that gains of DLX4 and ERBB2 occur in South African breast cancer patients irrespectively of their race and factors known to influence prognosis.

Copy number alterations of the H2AFX gene in sporadic breast cancer patients

2008 ◽  
Vol 180 (2) ◽  
pp. 121-128 ◽  
Author(s):  
Niloo Srivastava ◽  
Sailesh Gochhait ◽  
Pawan Gupta ◽  
Rameshwar N.K. Bamezai
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Copy Number ◽  
Sporadic Breast Cancer ◽  
Copy Number Alterations ◽  
Breast Cancer Patients

Heterogeneous intracellular TRAIL-receptor distribution predicts poor outcome in breast cancer patients

2019 ◽  
Author(s):  
T Heilmann ◽  
F Vondung ◽  
C Borzikowsky ◽  
S Szymczak ◽  
K Sandra ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Trail Receptor ◽  
Breast Cancer Patients ◽  
Poor Outcome ◽  
Receptor Distribution

scholarly journals Single Cell Genetic Profiling of Tumors of Breast Cancer Patients Aged 50 Years and Older Reveals Enormous Intratumor Heterogeneity Independent of Individual Prognosis

Cancers ◽  
2021 ◽  
Vol 13 (13) ◽  
pp. 3366
Author(s):  
Anna-Sophie Liegmann ◽  
Kerstin Heselmeyer-Haddad ◽  
Annette Lischka ◽  
Daniela Hirsch ◽  
Wei-Dong Chen ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Copy Number ◽  
Genome Instability ◽  
Single Cells ◽  
Gene Mutations ◽  
Intratumor Heterogeneity ◽  
Breast Cancer Patients ◽  
Luminal A ◽  
Pik3ca Mutations

Purpose: Older breast cancer patients are underrepresented in cancer research even though the majority (81.4%) of women dying of breast cancer are 55 years and older. Here we study a common phenomenon observed in breast cancer which is a large inter- and intratumor heterogeneity; this poses a tremendous clinical challenge, for example with respect to treatment stratification. To further elucidate genomic instability and tumor heterogeneity in older patients, we analyzed the genetic aberration profiles of 39 breast cancer patients aged 50 years and older (median 67 years) with either short (median 2.4 years) or long survival (median 19 years). The analysis was based on copy number enumeration of eight breast cancer-associated genes using multiplex interphase fluorescence in situ hybridization (miFISH) of single cells, and by targeted next-generation sequencing of 563 cancer-related genes. Results: We detected enormous inter- and intratumor heterogeneity, yet maintenance of common cancer gene mutations and breast cancer specific chromosomal gains and losses. The gain of COX2 was most common (72%), followed by MYC (69%); losses were most prevalent for CDH1 (74%) and TP53 (69%). The degree of intratumor heterogeneity did not correlate with disease outcome. Comparing the miFISH results of diploid with aneuploid tumor samples significant differences were found: aneuploid tumors showed significantly higher average signal numbers, copy number alterations (CNAs) and instability indices. Mutations in PIKC3A were mostly restricted to luminal A tumors. Furthermore, a significant co-occurrence of CNAs of DBC2/MYC, HER2/DBC2 and HER2/TP53 and mutual exclusivity of CNAs of HER2 and PIK3CA mutations and CNAs of CCND1 and PIK3CA mutations were revealed. Conclusion: Our results provide a comprehensive picture of genome instability profiles with a large variety of inter- and intratumor heterogeneity in breast cancer patients aged 50 years and older. In most cases, the distribution of chromosomal aneuploidies was consistent with previous results; however, striking exceptions, such as tumors driven by exclusive loss of chromosomes, were identified.

Screening and detection of chromosomal copy number alterations in the domestic horse using SNP‐array genotyping data

2021 ◽  
Author(s):  
Y. Pirosanto ◽  
N. Laseca ◽  
M. Valera ◽  
A. Molina ◽  
M. Moreno‐Millán ◽  
...  
Keyword(s):  
Copy Number ◽  
Snp Array ◽  
Domestic Horse ◽  
Copy Number Alterations ◽  
Chromosomal Copy Number ◽  
Chromosomal Copy
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