HER2^Ile655Val Polymorphism and Risk of Breast Cancer

Abstract

HER2 plays a vital role in the development and progression of several types of human cancer, so the HER2 becomes one of major targets for HER2-positive breast cancer treatment. Several reports have shown that the HER2 oncogene expression relates to clinicopathological factors in cancer patients. HER2Ile655Val single nucleotide polymorphism associates with malignant tumors, including prostate cancer, colorectal cancer, osteosarcoma, gastric cancer, uterine cervical carcinoma, fibroadenoma, and breast cancer. To understand the precise association, this chapter was described to estimate the association between HER2Ile655Val single nucleotide polymorphism and susceptibility to breast cancer. Our findings suggest that the Val allele in HER2 codon 655 single nucleotide polymorphism is strongly associated with the risk of breast cancer. HER2Ile655Val single nucleotide polymorphism might also be a susceptibility factor that favors early-onset breast cancer.

Protective Effect of HER2 Gene Polymorphism rs24537331 in the Outcome of Canine Mammary Tumors

“…A growing body of evidence has demonstrated a remarkable genetic variation of the canine HER2 gene, with several SNPs being documented [ 20 , 21 , 24 , 25 ]. Nonetheless, although SNPs in the human HER2 gene have been associated with the susceptibility, clinical course, and response to treatment of breast cancer disease [ 37 , 38 , 39 ], the knowledge regarding the influence of HER2 SNPs on clinicopathological features and prognosis of CMT is still incomplete. In previous studies, our group demonstrated that SNP rs24537329 and rs24537331 in the canine HER2 gene were related to the CMT histotype, with the former being associated with the development of aggressive histological types, while the latter was related to less aggressive CMT histotypes [ 12 ].…”

Human epidermal growth receptor polymorphisms (HER1–rs11543848 and HER2–rs1136201) exhibited significant association with breast cancer risk in Pashtun population of Khyber Pakhtunkhwa, Pakistan

“…17 The polymorphism (I655V) present in the transmembrane region of HER2 is linked with an increased risk of breast cancer. 18 At codon 655, the conversion of Ile:ATC to V:GTC causes an increase in dimerization, tyrosine kinase activity, and autophosphorylation leading to cell transformation. 19 In HER2-positive…”

“…The polymorphisms in HER2 enhance the tyrosine kinase activity as well as increasing the formation of HER2 heterodimers that cause the progression of tumor 17 . The polymorphism (I655V) present in the transmembrane region of HER2 is linked with an increased risk of breast cancer 18 . At codon 655, the conversion of Ile:ATC to V:GTC causes an increase in dimerization, tyrosine kinase activity, and auto‐phosphorylation leading to cell transformation 19 .…”

“… 17 The polymorphism (I655V) present in the transmembrane region of HER2 is linked with an increased risk of breast cancer. 18 At codon 655, the conversion of Ile:ATC to V:GTC causes an increase in dimerization, tyrosine kinase activity, and auto‐phosphorylation leading to cell transformation. 19 In HER2‐positive Breast cancer nearly 50 copies of HER2 gene causes 40–100‐folds rise in HER2 proteins and approximately 2 millions of receptors of HER2 are expressed on the surface of tumor cells.…”