Novel sequence variants in the TLR6 gene associated with advanced breast cancer risk in the Saudi Arabian population

Semlali, Abdelhabib; Almutairi, Mikhlid H.; Rouabhia, Mahmoud; Parine, Narasimha Reddy; Amri, Abdullah Al; Al‐Numair, Nouf S.; Hawsawi, Yousef MohammedRabaa; Alanazi, Mohammad

doi:10.1371/journal.pone.0203376

Cited by 23 publications

(12 citation statements)

References 39 publications

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“…However, mortality could be decreased considerably via prevention strategies aimed at individuals who are identified as being at high risk (Weitzel, Blazer, Macdonald, Culver, & Offit, ). Semlali et al in 2018 identified novel single‐nucleotide polymorphisms (SNPs) in Toll‐like receptor 6 (TLR6) (rs5743810) that are associated with advanced BC risk in the Saudi Arabian population (Semlali et al, ).…”

Section: Introductionmentioning

confidence: 99%

The role of BRCA1/2 in hereditary and familial breast and ovarian cancers

Hawsawi

Al‐Numair

Sobahy

et al. 2019

Molec Gen & Gen Med

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Background BRCA1/2 pathogenic variants have become associated with familial breast and ovarian cancers, and hereditary cancer‐predisposition syndrome. With advances in molecular biology, BRCA profiling facilitates early diagnosis and the implementation of preventive and therapeutic strategies. The genes exhibit variable prevalence among different individuals and moderate interpretation complexity. BRCA deficiency is instrumental in cancer development, affects therapeutic options and is instrumental in drug resistance. In addition, BRCA1/2 profile is diverse across different groups and has been associated with the “founder effect” in certain populations. Methods In this review, we aim to detail the spectrum of BRCA1/2 variants and their associated risk estimates. Results The relationship between BRCA1/2 and hereditary and familial cancers is indisputable, yet BRCA screening methods are beset with limitations and lack clinical confidence. Conclusion This review emphasizes the importance of screening BRCA genetics, in addition to their clinical utility. Furthermore, founder variants are anticipated in the Saudi population.

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Section: Introductionmentioning

confidence: 99%

The role of BRCA1/2 in hereditary and familial breast and ovarian cancers

Hawsawi

Al‐Numair

Sobahy

et al. 2019

Molec Gen & Gen Med

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“…According to the WHO, the global burden of cancer is expected to increase by the year 2040 to 27.5 million new cases and 16.3 million deaths as a result of population growth and aging [1]. In Saudi Arabia, cancer is very common due to the high rate of consanguinity and genetic factors [3,4] as it has been ranked as the second leading cause of deaths.…”

Section: Introductionmentioning

confidence: 99%

Characterization and Anticancer Potential of Silver Nanoparticles Biosynthesized from Olea chrysophylla and Lavandula dentata Leaf Extracts on HCT116 Colon Cancer Cells

Sufyani

Hussien

Hawsawi

2019

Journal of Nanomaterials

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Cancer was ranked as the second leading cause of death, and colon cancer has been reported as the third most frequent cancer worldwide. Chemotherapeutic drugs act on normal and cancerous cells similarly; therefore, they have various adverse side effects. Nanoparticles were identified to have a controlled effect on different cancer cell lines. The present study is aimed at studying biosynthesis silver nanoparticles by using aqueous Olea chrysophylla and Lavandula dentata leaf extracts, separately, and evaluating their anticancer potential. Silver nanoparticles were characterized by using SEM, XRD, FTIR, zeta potential, and size distribution mean, and their antiproliferative and apoptotic potentials were evaluated on HCT116 cells. Results show the formation of silver nanoparticles Olea-AgNPs and Lav-AgNPs due to the change of color to dark brown, and characterization revealed their crystalline shape with a mean size of 284.5 nm for Lav-AgNPs and 328.6 nm for Olea-AgNPs. Lav-AgNPs shows more stability than Olea-AgNPs due to its higher negative zeta potential (-14.3 mV) than nanoparticles biosynthesized from Olea leaves (-0.877 mV). Conversely, Lav-AgNPs shows more effective antiproliferative potential on HCT116 with (IC50 = 59.79 μg/ml) than Olea-AgNPs (IC50 = 99.35 μg/ml). However, Olea-AgNPs significantly increased the late stage of apoptotic and necrotic cells in comparison to Lav-AgNPs-treated cells in flow cytometry assay. Silver nanoparticles biosynthesized from Olea and lavender show anticancer potential with a more effective potential reported compared to Lav-AgNPs.

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“…The major causes of IDA in Saudi Arabia include inadequate consumption of Vitamin C, infrequent consumption of red meat and fish, and genetic/or family history of IDA [ 8 , 10 ]. Several polymorphisms have been previously reported in the Saudi population as causative single nucleotide polymorphisms (SNPs) in diseases such as breast cancer [ 12 – 16 ], colon cancer [ 17 – 19 ], diffuse parenchymal lung disease [ 20 ], and acute myeloid leukemia [ 21 , 22 ]. In addition, genetic risk factors for IDA and causative genes have also been identified including the TMPRSS6 gene [ 23 ].…”

Section: Introductionmentioning

confidence: 99%

Association of SNPs within TMPRSS6 and BMP2 genes with iron deficiency status in Saudi Arabia

et al. 2021

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Background Globally, iron-deficiency anemia (IDA) remains a major health obstacle. This health condition has been identified in 47% of pre-school students (aged 0 to 5 years), 42% of pregnant females, and 30% of non-pregnant females (aged 15 to 50 years) worldwide according to the WHO. Environmental and genetic factors play a crucial role in the development of IDA; genetic testing has revealed the association of a number of polymorphisms with iron status and serum ferritin. Aim The current study aims to reveal the association of TMPRSS6 rs141312 and BMP2 rs235756 with the iron status of females in Saudi Arabia. Methods A cohort of 108 female university students aged 18–25 years was randomly selected to participate: 50 healthy and 58 classified as iron deficient. A 3–5 mL sample of blood was collected from each one and analyzed based on hematological and biochemical iron status followed by genotyping by PCR. Results The genotype distribution of TMPRSS6 rs141312 was 8% (TT), 88% (TC) and 4% (CC) in the healthy group compared with 3.45% (TT), 89.66% (TC) and 6.89% (CC) in the iron-deficient group (P = 0.492), an insignificant difference in the allelic distribution. The genotype distribution of BMP2 rs235756 was 8% (TT), 90% (TC) and 2% (CC) in the healthy group compared with 3.45% (TT), 82.76% (TC) and 13.79% (CC) in iron-deficient group (P = 0.050) and was significantly associated with decreased ferritin status (P = 0.050). In addition, TMPRSS6 rs141312 is significantly (P<0.001) associated with dominant genotypes (TC+CC) and increased risk of IDA while BMP2 rs235756 is significantly (P<0.026) associated with recessive homozygote CC genotypes and increased risk of IDA. Conclusion Our finding potentially helps in the early prediction of iron deficiency in females through the genetic testing.

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Novel sequence variants in the TLR6 gene associated with advanced breast cancer risk in the Saudi Arabian population

Cited by 23 publications

References 39 publications

The role of BRCA1/2 in hereditary and familial breast and ovarian cancers

The role of BRCA1/2 in hereditary and familial breast and ovarian cancers

Characterization and Anticancer Potential of Silver Nanoparticles Biosynthesized from Olea chrysophylla and Lavandula dentata Leaf Extracts on HCT116 Colon Cancer Cells

Association of SNPs within TMPRSS6 and BMP2 genes with iron deficiency status in Saudi Arabia

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