BRCA1 disease-associated haplotypes in Singapore Malay women with early-onset breast/ovarian cancer

Ali, Azhar; Iau, Philip Tsau Choong; Putti, Thomas Choudary; Sng, Jen Hwei

doi:10.1007/s10549-006-9467-6

Cited by 5 publications

(6 citation statements)

References 10 publications

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“…Two groups studying BRCA mutations in Singapore, where the population is also multi-ethnic but in different proportions (Chinese 77%, Malays 14% and Indians 8%), reported seven mutations in BRCA1 that were not observed in our cohort [ 24 - 27 ]. One mutation, c.2845insA in BRCA1 , was recently reported to have a founder effect among the Malay population in Singapore [ 25 , 28 , 29 ], but this was not found in 44 Malays in our study.…”

Section: Discussioncontrasting

confidence: 92%

Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer

et al. 2008

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Introduction The cost of genetic testing and the limited knowledge about the BRCA1 and BRCA2 genes in different ethnic groups has limited its availability in medium-and lowresource countries, including Malaysia. In addition, the applicability of many risk-assessment tools, such as the Manchester Scoring System and BOADICEA (Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm) which were developed based on mutation rates observed primarily in Caucasian populations using data from multiplex families, and in populations where the rate of breast cancer is higher, has not been widely tested in Asia or in Asians living elsewhere. Here, we report the results of genetic testing for mutations in the BRCA1 or BRCA2 genes in a series of families with breast cancer in the multi-ethnic population (Malay, Chinese and Indian) of Malaysia.

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Section: Discussioncontrasting

confidence: 92%

Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer

et al. 2008

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“…Furthermore, cancer consciousness appears to extend to neighboring countries in the region [10], with an increase in numbers of breast pathology consultations sent to Singapore General Hospital, the largest healthcare institution in Singapore [11]. The intended linkage of the BreastScreen Singapore database with the National Cancer Registry will enable efficient analysis of assessment outcomes, and comparison with epidemiological data [12][13][14][15]. As with all fights against cancer, of prime importance is not only early cancer detection and higher cure rates, but also prevention.…”

Section: Research Activitiesmentioning

confidence: 99%

“…Founder mutations or recurrent mutations with shared common haplotypes from a population have been analyzed using microsatellite markers among Singaporean Malays, and BRCA1c.2845insA mutations with a shared haplotype were identified among 6/62 (9.7%) unrelated early onset breast/ovarian cancer cases [14]. Among Singaporean Chinese, a study explained polymorphisms in two genes involved in estrogen metabolism, CYP17 and HSD17B1, and its elevated joint effect on breast cancer risk among postmenopausal women [15].…”

Section: Research Activitiesmentioning

confidence: 99%

Breast cancer in Singapore: some perspectives

2009

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Breast cancer is the commonest malignancy among Singapore women, accounting for 29.7% of all female cancers, with an age-standardized rate of 54.9 per 100,000 per year. It has been the most frequent cancer in Singapore women for the last 30 years, with the highest rates previously reported in those aged between 45 and 49 years, but with a more recent observation of a change in peak age group to women in their late 50s. About 1,100 new cases are diagnosed annually and approximately 270 women die in Singapore each year from breast cancer. In the multiethnic population of Singapore, it has been noted that rising breast cancer incidence is consistent across all three ethnic groups (Chinese, Malays, and Indians). Singapore has among the highest breast cancer incidence in Asia. Possible explanations include rapid urbanization, improvement in socio-economic status, and adoption of a western lifestyle. Our experience with the Singapore breast screening pilot project (1994-1997) and the national breast-screening program (BreastScreen Singapore) has led to increased understanding of this disease in the country. Data from the pilot project showed that breast screening is just as effective in a predominantly Asian population as in the west. Early breast cancer accounted for most breast cancers detected, with pre-invasive ductal carcinoma in situ (DCIS) comprising 26% of all screen-detected cancers in the pilot study. In the currently on-going BreastScreen Singapore, DCIS forms >30% of all breast cancers among pre-menopausal women, a relatively high proportion probably accounted for partially by the greater participation of women aged between 40 and 49 years. Despite the ready availability of subsidized mammographic screening, there are still women in Singapore who present with locally advanced breast cancer. Clinical management of an increasing number of women with breast cancer embraces a multidisciplinary team-based approach, with regular discussions of therapeutic strategies at tumor boards. In order to improve breast cancer diagnostics and therapeutics in our country, it is important that there are continual breast cancer and breast disease-related educational activities for medical professionals engaged in diagnosing and managing breast cancer. The role of public education in raising awareness is also essential.

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“…Osorio et al observed one specific allele for microsatellite marker D17S855, which are also more frequently associated with BRCA1 mutations ( 18 ). In Malaya patients BRCA1 was found to have a deleterious mutation, c.2845insA, which was associated with STR haplotype, 142-127-159 for D17S855, D17S1322 and D17S323, respectively ( 11 ).…”

Section: Discussionmentioning

confidence: 99%

“…Familial mutation may be hereditary, while screening and detection of mutations in BRCA1 gene may help in medical management of patients and their families. BRCA1 haplotype analysis was carried out to estimate the ancestral origin of mutations and haplotypes associated with particular diseases ( 10 , 11 ). Founder mutation analysis performed using haplotype assessment to find the first carrier of mutation, in several population founder mutation have been originated ( 12 - 16 ).…”

Section: Introductionmentioning

confidence: 99%

Haplotype analysis of BRCA1 intragenic markers in Iranian patients with familial breast and ovarian cancer

Miresmaeili

Kordi-Tamandani

Kalantar

et al. 2016

IJRM

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Background:Breast cancer is the most common malignancy in women. Breast Cancer Type 1 Susceptibility gene (BRCA1) is a tumor suppressor gene, involved in DNA damage repair and in 81% of the breast-ovarian cancer families were due to BRCA1. In some clinically investigated genes, the intragenic marker polymorphism is important and the screening of such mutations is faster by using short tandem repeat (STR) polymorphism. Individual polymorphism of STR is a good evidence for following inheritance of repeat polymorphism.Objective:The aim of this study was to evaluate three intragenic BRCA1 marker polymorphisms in families, which have two or more patients with breast/ovarian cancer in comparison to healthy women.Materials and Methods:A total of 107 breast and/or ovarian cancer patients and 93 unrelated healthy women with no clinical phenotype of any malignancy or familial cancer history constitute the study groups. Haplotyping analysis, at 3 intragenic BRCA1 microsatellite markers (D17S855, D17S1322 and D17S1323), were performed for all subject and control groups using labeled primers.Results:After fragment analysis, significance differences were observed as follows: two alleles of D17S855; allele 146 (p=0.02) and 150 (p=0.006), and two alleles of D17S1322, allele 121 (p=0.015) and 142 (p=0.043). These differences were compared with control group. There was significance difference in 8 di/tri allelic haplotypes in present experimental subjects. Some haplotypes were observed to have approximately twice the relation risk for breast cancer. Conclusion:According to recent results, assessment of presence or absence of mentioned alleles in BRCA1 microsatellite can be used for prognosis in individuals, suspected of having or not having the breast cancer.

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BRCA1 disease-associated haplotypes in Singapore Malay women with early-onset breast/ovarian cancer

Cited by 5 publications

References 10 publications

Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer

Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer

Breast cancer in Singapore: some perspectives

Haplotype analysis of BRCA1 intragenic markers in Iranian patients with familial breast and ovarian cancer

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