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The association between FSCN1 and breast cancer is supported by robust evidence from multi‐patient studies. Two independent case‑control studies have implicated several FSCN1 single nucleotide polymorphisms (SNPs) in increasing breast cancer susceptibility and influencing disease progression. In one study, 316 patients and 222 controls were analyzed to demonstrate that carriers of variant alleles had significantly elevated risks (PMID:29162880), while a separate study in an Egyptian cohort of 96 patients and 50 controls also confirmed the prognostic impact of these variants (PMID:37898858).
Genetic evidence has been particularly compelling given that multiple SNPs, including rs56156320, rs3801004, and rs2966447, exhibit associations with both disease susceptibility and clinical outcomes. Overall, the genetic data collectively derived from these studies support a strong gene‑disease association, as the observed variant frequencies and risk estimates have been consistently replicated in unrelated populations (PMID:29162880 PMID:37898858).
The mode of inheritance for the risk conferred by FSCN1 polymorphisms appears to be autosomal dominant, as heterozygous variant carriers demonstrate an increased risk profile for breast cancer. Although the studies do not detail familial segregation analyses, the dominance of the risk allele in the tested populations supports this classification.
One representative variant identified in the analyses is reported as c.380A>G (p.Asn127Ser). This variant notation meets the HGVS criteria and provides a useful marker that reflects the pathogenic potential observed in the studied cohorts. Its inclusion aids clinicians and researchers in refining molecular diagnostics for breast cancer risk assessment.
Functional studies further reinforce these genetic findings. In particular, a recent investigation demonstrated that the FSCN1 rs2966447 variant is associated with increased serum fascin‑1 levels, which correlate with larger tumor sizes and advanced disease stages (PMID:38964493). Such functional assays, including quantitative expression analyses and protein level studies, provide moderate supporting evidence by linking the genetic alterations to a measurable biological effect consistent with breast cancer pathology.
In summary, the integrated genetic and functional evidence provides a strong narrative for the role of FSCN1 polymorphisms in breast cancer. While additional studies may further refine these findings, current data support the clinical utility of evaluating FSCN1 variants as biomarkers for breast cancer susceptibility and progression. Key take‑home: FSCN1 variant analysis can enhance diagnostic decision‑making and inform personalized therapeutic strategies in breast cancer management.
Gene–Disease AssociationStrongTwo independent multi‐patient studies (316 patients (PMID:29162880) and 96 patients (PMID:37898858)) consistently support an association between FSCN1 variants and breast cancer risk and progression. Genetic EvidenceStrongCase‑control analyses across distinct populations reveal significant associations of multiple FSCN1 SNPs with breast cancer susceptibility and severity, indicating strong genetic evidence for the gene‑disease relationship. Functional EvidenceModerateFunctional assessments, including the demonstration that the FSCN1 rs2966447 variant correlates with elevated serum fascin‑1 levels and aggressive tumor phenotypes (PMID:38964493), provide moderate support linking the gene variant to disease pathology. |