Characterization of BRCA1 and BRCA2 variants in multi-ethnic Asian cohort from a Malaysian case-control study

Lai, Kah Nyin; Ho, Weang Kee; Kang, In Nee; Kang, Peter Choon Eng; Phuah, Sze Yee; Mariapun, Shivaani; Yip, Cheng‐Har; Taib, Nur Aishah Mohd; Teo, Soo‐Hwang

doi:10.1186/s12885-017-3099-6

Cited by 10 publications

(8 citation statements)

References 33 publications

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“…We selected 14 BRCA2 VUS identified in BRCA1 and BRCA2 testing of 467 breast cancer patients in Malaysian (Lai et al, 2017; Table 1) for further analysis and characterization. The missense variants map to different exons ranging from 10 to 27.…”

Section: Resultsmentioning

confidence: 99%

“…We selected 14 BRCA2 VUS identified in BRCA1 and BRCA2 testing of 467 breast cancer patients in Malaysian (Lai et al, 2017; Table 1) is considered benign. IVS7-10insT is not listed in ClinVar (Table 1).…”

Section: Brca2 Vus In Malaysian Cohortmentioning

confidence: 99%

“…In this study, we have functionally characterized 14 BRCA2 VUS that have been found in the different ethnic groups (Malays, Chinese, Indian, and other indigenous groups) of the Malaysian population (Lai et al, 2017; Thirthagiri et al, 2008; Toh et al, 2008). We have determined the prevalence of these variants in a cohort of 7,840 breast cancer cases and 7,928 controls in Malaysia and Singapore.…”

Section: Introductionmentioning

confidence: 99%

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Epidemiological and ES cell‐based functional evaluation of BRCA2 variants identified in families with breast cancer

et al. 2020

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The discovery of high-risk breast cancer susceptibility genes, such as Breast cancer associated gene 1 (BRCA1) and Breast cancer associated gene 2 (BRCA2) has led to accurate identification of individuals for risk management and targeted therapy. The rapid decline in sequencing costs has tremendously increased the number of individuals who are undergoing genetic testing worldwide. However, given the significant differences in population-specific variants, interpreting the results of these tests can be challenging especially for novel genetic variants in understudied populations. Here we report the characterization of novel variants in the Malaysian and Singaporean population that consist of different ethnic groups (Malays, Chinese, Indian, and other indigenous groups). We have evaluated the functional significance of 14 BRCA2 variants of uncertain clinical significance by using multiple in silico prediction tools and examined their frequency in a cohort of 7840 breast

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Section: Resultsmentioning

confidence: 99%

Section: Brca2 Vus In Malaysian Cohortmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Epidemiological and ES cell‐based functional evaluation of BRCA2 variants identified in families with breast cancer

et al. 2020

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“…That also bio-activates various carcinogenic therapy and ethnicity [23,24]. The frequencies of the SULT1A1*2 allele differ ranging from 5 to 32% among ethnic populations [4,25].…”

Section: Discussionmentioning

confidence: 99%

Sulpha-Transferase (Sult-1a) Genetic Polymorphism and Risk of Breast Cancer in Jordan

2019

IJBPAS

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Sulfotransferases (SULTs) family plays a significant role in the biotransformation of xenobiotics and endogenous carcinogenic and mutagenic compounds. Recent data identified various genetically polymorphic SULTs enzymes with significant variations in the enzyme activity. This study aimed to investigate the impact of SULT1A1 gene polymorphism and its potential risk on females with breast cancer in Jordan using a PCR-RFLP and Sanger Sequencing methods. The analysis showed that 24.7% of the patients and 25.3% of the controls were homozygous for the SULT1A1*1 allele (SULT1A1*1/SULT1A1*1) compared to 8.8% and 5.7% homozygous for the SULT1A1*2 allele (SULT1A1*2/SULT1A1*2) for patients and controls respectively. Most of the patients and controls were heterozygous for SULT1A1*1 allele (SULT1A1*1/SULT1A1*2) with rates of 66.5% and 69.0% 27 in patients and controls respectively. In addition, the frequencies of

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“…In this context, different genetic background in the SULT1A1 would importantly affects the risk estimates associated with the development and prognosis of breast cancer. It is believed that the development of breast cancer depends not only on germ line mutations of BRCA1/BRCA2 genes, but also on several factors including age, tobacco use, hormone therapy and ethnicity [23,24].…”

Section: Discussionmentioning

confidence: 99%

Impact of Genetic Polymorphism of Sulpha Transferase Genes (SULT1A) Genes on the Risk of Females with Breast Cancer in Jordan

Bustami¹,

Al‐Shudifat²,

Hussein³

et al. 2018

Preprint

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Sulfotransferases (SULTs) family plays a significant role in the biotransformation of a variety of xenobiotics and endogenous compounds by which carcinogenesis and mutagenicity of different malignancies are increasingly affected. Recent data identified various genetically polymorphic SULTs enzymes with significant variations in the enzyme activity. This study aimed to investigate the impact of SULT1A1 gene polymorphism and and its potential risk on females with breast cancer in Jordan using a PCR-RFLP and Sanger Sequencing methods. The analysis showed that 24.7% of the patients and 25.3% of the controls were homozygous for the SULT1A1*1 allele (SULT1A1*1/SULT1A1*1) compared to 8.8% and 5.7% homozygous for the SULT1A1*2 allele (SULT1A1*2/SULT1A1*2) for patients and controls respectively. Most of the patients and controls were heterozygous for SULT1A1*1 allele (SULT1A1*1/SULT1A1*2) with rates of 66.5% and 69.0% in patients and controls respectively. In addition, the frequencies of the mutant SULT1A1*2 allele were 0.42 and 0.4 in the patient and control groups respectively. No significant difference in genotype and allele distribution was noted between the breast cancer and control groups. The risk of breast cancer in individuals carrying the SULT1A1*2 allele was determined by combining the SULT1A1*1/SULT1A1*2 and ULT1A1*2/SULT1A1*2 genotypes. No association was observed between SULT1A1 polymorphism and breast cancer incidence (P = 0.63; OR, 0.93; 95% CI, 0.68–1.26). However, SULT1A1*2 allele was found to increase the risk of breast cancer by 1.26-fold.

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Characterization of BRCA1 and BRCA2 variants in multi-ethnic Asian cohort from a Malaysian case-control study

Cited by 10 publications

References 33 publications

Epidemiological and ES cell‐based functional evaluation of BRCA2 variants identified in families with breast cancer

Epidemiological and ES cell‐based functional evaluation of BRCA2 variants identified in families with breast cancer

Sulpha-Transferase (Sult-1a) Genetic Polymorphism and Risk of Breast Cancer in Jordan

Impact of Genetic Polymorphism of Sulpha Transferase Genes (SULT1A) Genes on the Risk of Females with Breast Cancer in Jordan

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