Her2 Ile655Val polymorphism and its association with breast cancer risk: an updated meta-analysis of case-control studies

Abstract

Breast cancer (BC) is one of the most common types of cancer in women worldwide. Several factors including genetic and environmental have been linked with susceptibility to development of BC. Her2 is a transmembrane protein with tyrosine kinase activity, overexpressed in several cancers including BC. Various studies in different populations have shown association of Her2 variants with susceptibility to BC, however these results were inconsistent, inconclusive and controversial. To obtain a common conclusive finding, we performed meta-analysis of 35 case-control studies reported earlier including 19, 220 cases and 22, 306 controls. We observed significant association of Her2 Ile655Val polymorphism with susceptibility to development of breast cancer (Overall allele Val vs Ile: OR = 1.130, 95% CI = 1.051–1.216, p = 0.001; Ile-Val vs Ile-Ile: OR = 1.100, 95% CI = 1.016–1.192, p = 0.019; Val-Val+Ile-Val vs Ile-Ile: OR = 1.127, 95% CI = 1.038–1.223, p = 0.004). Subgroup analysis indicated a significant association with susceptibility to breast cancer in African and Asian populations. However, such association was not observed in other ethnic groups. Our findings suggested that Her2 Ile655Val polymorphism is associated with breast cancer risk in overall, Asian and African populations, and can be used as diagnostic marker for BC.

Association of TGF-β1 Polymorphisms with Breast Cancer Risk: A Meta-Analysis of Case–Control Studies

“…Heterogeneity among the studies and publication bias were calculated using Begg's funnel plots and chi-squared-based Cochran's Q tests, respectively. Egger's regression tests were performed to analyze and measure the symmetry of funnel plots, as described previously [22]. Asymmetrical funnel plots were made symmetrical using the "Trim and Fill" method.…”

“…Baxter et al found that the TGF-β1*6A variant increased BC risk by 60% [21]. However, contradictory results have also been observed [19,[22][23][24][25]. Therefore, we performed the current meta-analysis to provide conclusive evidence for the associations between TGF-β1 polymorphisms and BC risk.…”

“…Each publication was assessed thoroughly, and data were extracted independently by three researchers, following the same pattern and extracting the same data essential for meta-analyses that have been previously described [22,23]. The researchers conducted group discussions to resolve any discrepancies in extraction.…”

Deciphering of Key Pharmacological Pathways of Poria Cocos Intervention in Breast Cancer Based on Integrated Pharmacological Method

“…Estrogen is a considerable regulator of mammary gland growth and differentiation, and it is also key in the occurrence and development of breast cancer [ 42 ]. Furthermore, studies have shown that excessive endogenous and endogenous estrogens may lead to pathological changes in many cancer cell lines, including breast cancer cells [ 43 ]. Therefore, as a gene encoding estrogen receptor, the genetic variation of ESR1, may expose the potential risk of breast cancer.…”

Somatic Mutations in HER2 and Implications for Current Treatment Paradigms in HER2-Positive Breast Cancer

“…Singla et al [49] found, among patients in Indian hospitals, a positive significant association between HER2 I655V and the susceptibility of developing breast cancer, while other authors have detected negative correlation when examining patients in Brazil [66]. A metaanalysis conducted in 2019 [67] revealed the impacts of ethnicity on the association between mutation HER2 I655V and breast cancer risk, observing positive correlation in Asia and Africa but not the other continents. e relationship between this mutation and the response to trastuzumab-containing chemotherapy in HER2-positive breast cancer patients has been examined, yet results have been contradictory.…”