IFN-gamma→3' Untranslated Regions→Interferon-gamma→Receptor, Epidermal Growth Factor→BRCA1

• 20038203(IFN-gamma): Rare human IFNG variants.

  After the identification of the human interferon-gamma (IFNG) variant G54D (c. 287G) A , ss105106770) in DNA samples from Ghana , West Africa , systematic mutation screening of IFNG by the LightCycler ((R)) - based procedure of high-resolution melting (HRM) revealed additional rare mutations.

• 10663562(3' Untranslated Regions): Polymorphisms of the human IFNG gene noncoding regions.

  Electrophoretic mobility shift assay was used to investigate whether these variants have altered DNA-binding abilities , since intronic enhancer elements have been reported for the IFNG gene.

• 15900487(Interferon-gamma): Functional IFNG polymorphism in intron 1 in association with an increased risk to promote sporadic breast cancer.

  The study concludes that such genetic background for a proposed non-specific enhancer element with (CA) n repeat within intron 1 of the IFNG gene might put the individuals with this genotype at higher risk to promote the development of sporadic breast cancer due to a resultant compromised immune surveillance.

• 10706093(Receptor, Epidermal Growth Factor): Length and loss of heterozygosity of an intron 1 polymorphic sequence of egfr is related to cytogenetic alterations and epithelial growth factor receptor expression.

  Therefore , allele-specific gene expression due to LOH of the CA repeat could be assumed to be an important event in invasive breast cancer development.

• 20417865(BRCA1): Concomitant loss of heterozygosity at the BRCA1 and FHIT genes as a prognostic factor in sporadic breast cancer.

  Previous studies have shown loss of heterozygosity (LOH) at the BRCA1 and FHIT genes in sporadic primary breast cancer.