MATERIALS AND METHODS: Genomic DNA was isolated from peripheral blood of 71 breast cancer patients and 260 healthy controls and subjected to polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis.

RESULTS: Our study showed that the c1/c2 genotype or subjects with at least one c2 allele in CYP2E1 rs3813867 SNP had significantly increased almost 1.8-fold higher breast cancer risk in Malaysian women overall. In addition, the variant Phe allele in STK15 rs2273535 SNP appeared to protect against breast cancer in Malaysian Chinese. No significance association was found between XRCC1 SNPs and breast cancer risk in the population.

METHODS: This single-centred prospective cohort study was conducted from January-to-June 2021, involving all patients admitted on suspicion of appendicitis. All patients were scored according to the Alvarado score, Appendicitis Inflammatory Response (AIR) score, Raja Isteri Pengiran Anak Saleha (RIPASA) score and Adult Appendicitis score (AAS). The final diagnosis for each patient was recorded. Sensitivity and specificity were calculated for each system. Receiver operating characteristic (ROC) curve was constructed for each scoring system, and the area under the curve (AUC) was calculated. Optimal cut-off scores were calculated using Youden's Index.

RESULTS: A total of 245 patients were recruited with 198 (80.8%) patients underwent surgery. RIPASA score had higher sensitivity and specificity than other scoring systems without being statistically significant (sensitivity 72.7%, specificity 62.3%, optimal score 8.5, AUC 0.724), followed by the AAS (sensitivity 60.2%, specificity 75.4%, optimal score 14, AUC 0.719), AIR score (sensitivity 76.7%, specificity 52.2%, optimal score 5, AUC 0.688) and Alvarado score (sensitivity 69.9%, specificity 62.3%, optimal score 5, AUC 0.681). Multiple logistic regression revealed anorexia (p-value 0.018), right iliac fossa tenderness (p-value 0.005) and guarding (p-value 0.047) as significant clinical factors independently associated with appendicitis.

MATERIALS AND METHODS: We performed genotyping for both SNPs for 250 GIC patients and 572 healthy volunteers using a polymerase chain reaction- restriction fragment length polymorphism approach. We validated heterozygosity and homozygosity for both SNPs using direct sequencing.

RESULTS: The presence of a variant 194Trp allele in the Arg194Trp SNP was significantly associated with a higher risk of GIC, especially with gastric and colorectal cancers. We additionally found that the variant 399Gln allele in Arg399Gln SNP was associated with a greater risk of developing gastric cancer. Our combined analysis revealed that inheritance of variant alleles in both SNPs increased the GIC risk in Sabah population. Based on our etiological analysis, we found that subjects ≥50 years and males who carrying the variant 194Trp allele, and Bajau subjects carrying the 399Gln allele had a significantly increased risk of GIC.

CASE PRESENTATION: We report a 54-year-old male who presented with a 7-year history of large right anterior neck swelling. He was clinically euthyroid and had no compressive or infiltrative symptoms. He sought medical attention due to the discomfort exerted by the weight of the mass and was keen for excision. The swelling appeared like a goitre but physical examination proved otherwise. Imaging was suggestive of a benign tumour arising from the right parapharyngeal fossa. The mass was surgically excised and was noted to be adherent to part of the submandibular gland. Histopathological examination revealed a new variant of benign adipocytic tumour of salivary gland or sialolipoma arising from the submandibular gland. Besides being the largest sialolipoma to be reported, there are also no reports of giant submandibular sialolipomas masquerading as a huge goitre in appearance.