Numerous studies investigating an association between the matrix metalloproteinase-1 (MMP-1) gene rs1799750 polymorphism and breast cancer (BC) risk have reported inconsistent results. Therefore, this meta-analysis was undertaken to obtain a more precise estimate of the possible association between this genetic locus and BC susceptibility. Methods Eight eligible studies involving 3439 cases and 3517 controls were identified by searching the PubMed, Google, CNKI, and EMBASE databases systematically through October 1, 2020. Results The MMP-1 rs1799750 polymorphism was associated with a reduced BC risk in the overall study population under the heterozygous model. Stratification analyses indicated that this association is strong in Asians. Conclusion There is evidence of an association between the MMP-1 rs1799750 polymorphism and BC susceptibility, viewed as a decreased risk factor for BC. More extensive studies with more diverse ethnic populations are necessary to confirm these findings.Background Paclitaxel is a key antineoplastic agent in the treatment of breast cancer and many other malignancies. However, paclitaxel-induced peripheral neuropathy (PIPN) is a common adverse event that occurs with paclitaxel therapy and frequently causes considerable pain and a decline in patients’ quality of life. Single nucleotide polymorphisms (SNPs) in the ABCB1 gene have been frequently associated with increased severity of PIPN. However, the validity of ABCB1 SNP markers to predict the incidence of PIPN has not been confirmed. Methods We extracted genomic DNA from samples collected from 92 Egyptian female breast cancer patients receiving weekly paclitaxel and used them to genotype ABCB1 G1236A (rs1128503) and ABCB1 G3435A (rs1045642). Markers that correlated with PIPN, together with baseline clinical factors, were used to fit additive, dominant, overdominant, and recessive genetic models. We applied a repeated k-fold cross-validation algorithm to select the model with the highest predictive accuracy. We finally performed model diagnostics and receiver operating characteristics (ROCs) analysis for the model with the highest classification accuracy. Results The additive model achieved the highest classification accuracy. The G1236A homozygous AA variant correlated with grade ≥2 PIPN (p = 0.018). PIPN also correlated with body surface area (BSA) (p = 0.003) and history of diabetes before treatment (p = 0.015). ROCs analysis showed a sensitivity of 76.9%, a specificity of 86.8%, a positive predictive value of 83.64%, and a negative predictive value of 81.08% for the additive model. Conclusion The ABCB1 G1236A, BSA, and history of diabetes are valid predictors of PIPN, which can enable the personalization of paclitaxel dosing to prevent PIPN.Background B7-H6, a newly discovered member of the immunoglobulin superfamily, exerts antitumor effects by binding to NKP30 receptor on natural killer cells; it has important clinical implications. Cell surface ectodomain shedding of B7-H6 generates soluble B7-H6 (sB7-H6), which is highly expressed and serves as a valuable biomarker in multiple tumors, but the clinical significance and diagnostic value of B7-H6 in cervical squamous cell carcinoma (CSCC) remains unclear. Objective To assess the expression and diagnostic value of B7-H6 in CSCC. Methods In this study, 69 cervical specimens were analyzed for B7-H6 expression 25 paired CSCC tissues were examined using quantitative real-time polymerase chain reaction, and 24 paraffin-embedded CSCC tissues and 20 normal tissues were analyzed immunohistochemically. Furthermore, plasma samples from 30 CSCC patients and 24 healthy controls were examined using ELISA. selleck products Results B7-H6 mRNA and protein levels were significantly higher in CSCC tissues than in adjacent normal cervical tissues (p  less then  0.05). Immunohistochemical analysis revealed that high B7-H6 expression correlated with stromal invasion (p = 0.043), lymphovascular space involvement (p = 0.005), lymph node metastasis (p = 0.019), and International Federation of Gynecology and Obstetrics (FIGO) stage (p = 0.002). Moreover, ELISA results demonstrated that the sB7-H6 concentration in peripheral blood was higher in CSCC patients than in healthy controls (p  less then  0.0001). Notably, at the optimal cutoff point of 0.076 ng/mL, sB7-H6 showed 93.3% sensitivity and 62.5% specificity in the discrimination of CSCC patients from healthy controls. Conclusions B7-H6 mRNA and protein levels are markedly increased in CSCC tissues and peripheral blood samples, and the B7-H6 level can be used as a biomarker for predicting the severity of CSCC disease and discriminating CSCC patients from healthy controls.Background Multiple osteochondroma (MO), an autosomal dominant genetic disease, is caused by heterozygous mutations in the EXT1 and EXT2 genes. Approximately 80% of pathogenic mutations are nonsense/missense mutations, small indels, and splicing mutations. Splicing mutations, particularly at the 3′ and 5′ splice sites, disrupt normal mRNA processing and cause exon skipping or aberrant splicing, ultimately resulting in protein truncation and loss of function. Methods Polymerase chain reaction (PCR) and Sanger sequencing were applied to detect subtle mutations in a Chinese family with MO, the pathogenicity of a splicing variant was predicted by bioinformatics and further verified using a minigene splicing assay. Results A novel and heterozygous splicing mutation, c.626 + 2_626 + 5delTAGG, was identified in the EXT2 gene of the proband and the father by PCR and Sanger sequencing, whereas the unaffected mother and brother had wild-type alleles at the same site. Bioinformatics predicted that the 5′ splicing site of exon 3 in the EXT2 gene was destroyed due to this mutation. A hybrid minigene splicing assay (HMSA) indicated that the mutation disturbed the normal splicing of the EXT2 gene mRNA and led to a deletion of 79 bp at the 5′ end of exon 3, which resulted in aberrant splicing of exon 3 and introduced an earlier stop codon in the EXT2 gene. Conclusion A novel splicing mutation was identified that produced the MO phenotype through aberrant splicing in a Chinese family. This observation, expands our knowledge of the spectrum of molecular pathogenic mechanisms leading to aberrant mRNA splicing.