Given that the germline mutations of BRCA1 and BRCA2 confer genetic susceptibility to cancer, the
genetic variations, polymorphisms or mutations are widely analyzed in Western countries. However, in Asian
population, the prevalence of BRCA1 and BRCA2 polymorphisms is very limited. In Asia, breast cancer occurs in
women early with an age of onset under 50 years. This review comprises the incidence of BRCA1 and BRCA2
polymorphisms in the Japanese, Korean and Malaysian population. Founder mutations of BRCA1 and BRCA2
were also compared to mark the genetic difference in these populations. The mutational analysis performed to
analyze the entire coding region of BRCA1 and BRCA2 include the next generation sequencing and full
sequencing of all exons and intron-exon junctions. From the diagnosis of triple negative breast cancer (TNBC)
patients, TNBC is associated with the lack of tailored therapies and the treatment option available for TNBC
patients is mainly chemotherapy. The poor prognosis of TNBC leads to determine the predictive biomarkers in
order to develop treatment efficacy. This review will address the current clinical therapies available to treat TNBC
patients.
Malignant melanoma (MM) of parotid gland is a rare condition. This pathology is often a result of secondary metastasis from primary lesions in the head and neck skin. A MM arising de novo in parotid gland is very rare. This malignant tumour is more prevalent in adults rather than children and it tends to have several distinct features. Treatment options are limited especially for an advanced lesion. Despite best treatments this condition carries a poor prognosis. This case details our experience in treating a child with MM of parotid gland without other primary cutaneous lesions.
This study aimed to identify the most stably expressed reference genes from a panel of 32 candidate genes for normalization of reverse transcription-quantitative real-time polymerase chain reaction data in cancerous and non-cancerous tissues of human uterine cervix. Overall, PUM1, YWHAZ, and RPLP0 were identified as the most stably expressed genes in paired cancerous and non-cancerous tissues. The results were further stratified by the state of malignancy of the tissues, histopathological type of the cancer, and the human papillomavirus-type.
The inhibitory protein IκBα, encoded by the NFKBIA gene, plays an important role in regulating the activity of nuclear factor-kappa B, a transcription factor which has been implicated in the initiation and progression of cancers. This study aimed to evaluate the association of NFKBIA -826C>T (rs2233406) and -881A>G (rs3138053) polymorphisms with the risk of sporadic colorectal cancer (CRC) in Malaysian population. A case-control study comprising 474 subjects (237 CRC patients and 237 cancer-free controls) was carried out. The polymorphisms were genotyped from the genomic DNA of the study subjects employing PCR-RFLP, followed by DNA sequencing. The association between the polymorphic genotypes and CRC risk was evaluated by deriving odds ratios (ORs) and 95 % confidence intervals (CIs) using unconditional logistic regression analysis. The two polymorphisms were in complete and perfect linkage disequilibrium (D' = 1.0, r (2) = 1.0). Overall, no statistically significant CRC risk association was found for the polymorphisms (P > 0.05). A similar lack of association was observed when the data were stratified according to ethnicity (P > 0.05). However, stratification by gender revealed a significant inverse association between the heterozygous genotype of the polymorphisms and the risk of CRC among females (OR 0.53, 95 % CI 0.29-0.97, P = 0.04), but not among males (P > 0.05). In conclusion, the heterozygous genotype of the polymorphisms could contribute to a significantly decreased CRC risk among females, but not males, in the Malaysian population.