A Pilot Study on Screening of BRCA1 Mutations (185delAG, 1294del40) in Nepalese Breast Cancer Patients

Bhatta, Bibek; Thapa, Roshina; Shahi, Sanjay; Bhatta, Yogesh; Pandeya, Dipendra Raj; Poudel, Bal Hari

doi:10.7314/apjcp.2016.17.4.1829

Cited by 10 publications

(11 citation statements)

References 22 publications

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“…The mean age at diagnosis of our patients is close to the mean age at testing of women of African descent (45.2 years) but lower than that of the Asian descent (47.1 years) and European women (50 years) (Hall et al, 2009). Bhatta (2016) reported the mean age of onset of breast cancer was 42.59 years and found 8% of BRCA1 mutation in his study population in Nepal. Another study in Nepal reported older age (mean age 46.50 years) of onset (Singh and Sayami, 2009) than that of Bhatta (2016).…”

Section: Discussionsupporting

confidence: 65%

“…Bhatta (2016) reported the mean age of onset of breast cancer was 42.59 years and found 8% of BRCA1 mutation in his study population in Nepal. Another study in Nepal reported older age (mean age 46.50 years) of onset (Singh and Sayami, 2009) than that of Bhatta (2016). The mean age of onset was 47.50 years in the North Indian women (Singh et al, 2015) is higher than the age at diagnosis of our population.…”

Section: Discussionmentioning

confidence: 86%

“…Raised incidence rates in those countries are the effect of a increasing prevalence of the risk factors related to menstruation (early menarche, later age at menopause), reproduction (nulliparity, late age at first birth, and fewer children), exogenous hormone intake (oral contraceptive use and hormone replacement therapy), nutrition (alcohol consumption), and anthropometry (greater weight, weight gain during adulthood, and body fat distribution); while breastfeeding and physical activity are known protective factors (Bray et al, 2018). Highly penetrant mutations in BRCA1 gene constitute high risk of breast cancer (Bhatta et al, 2016). The spectrum of BRCA1 gene mutations is different and has significant variation in their contribution to breast cancer in different population (Szabo and King, 1997).…”

Section: Introductionmentioning

confidence: 99%

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Identification of Mutation in Exon11 of BRCA1 Gene in Bangladeshi Patients with Breast Cancer

Nishat

Yesmin

Arjuman

et al. 2019

Asian Pac J Cancer Prev

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Background: Worldwide, breast cancer is the leading cause of cancer death in female, in Bangladesh breast cancer is the second leading cancer in both sexes, and in women it occupied the top position. Highly penetrant mutations in BRCA1 gene constitute high risk of breast cancer. The spectrum of BRCA1 gene mutations varies in different population. The objective of this study was to identify mutation in exon11 of BRCA1 gene in Bangladeshi breast cancer patients. Methods: Genomic DNA was extracted from the histopathologically diagnosed formalin fixed paraffin embedded (FFPE) breast cancer tissues of 65 adult female patients. Two regions of exon11 of the BRCA1 gene were amplified and the amplicons were sequenced using Sanger sequencing. The sequenced nucleotides were analyzed and blast using NCBI nucleoblast. Selected demographic, reproductive and medical histories were collected and analyzed using SPSS version 20. Results: The mean age of the patients was 46 years and the mean age at diagnosis was 44.64 years. The patients were married and had 2.65 ± 1.22 children except one was nulliparous, the mean age of menarche was 12.67 years. All patients had children, breastfed the babies for an average 1.5 years. Only 13.6% of the patients had hypertension and the rest had no comorbidity. The family history for cancer (breast and other cancer) was negative. Three novel mutations were found in a patient. Two among the three mutant sequences had effect on amino acid coding (DNA sequence change g.852G>C and g.709G>A and amino acid changes p.Gln284His and p.Glu237Lys respectively). Conclusion: We found three novel mutations in Bangladeshi breast cancer patients. This finding indicates the necessity to study the mutation profile of whole BRCA1 gene in our population for cancer risk prediction.

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Section: Discussionsupporting

confidence: 65%

Section: Discussionmentioning

confidence: 86%

Section: Introductionmentioning

confidence: 99%

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Identification of Mutation in Exon11 of BRCA1 Gene in Bangladeshi Patients with Breast Cancer

Nishat

Yesmin

Arjuman

et al. 2019

Asian Pac J Cancer Prev

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“…21 Similarly, a pilot study Screening of BRCA1 Mutations (185delAG, 1294del40) in Nepalese breast cancer patients showed that BRCA1 Mutations (185delAG) was 8 %. 22…”

Section: Family Historymentioning

confidence: 99%

Current status of breast cancer in Nepal

2019

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Breast carcinoma is one of the most common and dreaded diseases of women, and in Nepal, it is second most common cancer. The situation is more alarming in the rural areas where the majority of women are illiterate and ignorant about the hazards of breast cancer. Different screening strategies such as rural cancer registries and camp approach for cancer detection have been found useful in minimizing the problem of breast cancer in the villages. Advanced presentation of breast cancer and the problem of late diagnosis is well documented in Nepal. Moreover, diagnostic workup, treatment and palliative services are inadequate in most parts of Nepal. A better understanding current situation of breast cancer can help government to formulate breast cancer prevention strategy in Nepal. In this review, authors present an overview of the burden of breast cancer, risk factors, screening, and cancer care among Nepalese women.

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“…The hereditary cancer burden in Nepal is unknown, however a recent study of 50 women with breast cancer diagnosed in Kathmandu found the prevalence of a single mutation ( BRCA1 185delAG) to be 8%, which is considerably higher than in unselected breast cancer cases in a western population [14], suggesting that hereditary cancer may be just as common, if not more so, than in other populations. Compared with the western developed countries, genetic testing and risk assessment for familial cancer in Asia has been shown to be less available, thus prohibiting the appropriate surveillance, clinical strategies and cancer management of patients and their relatives [15].…”

Section: Introductionmentioning

confidence: 99%

Genetic testing in a gynaecological oncology care in developing countries—knowledge, attitudes and perception of Nepalese clinicians

Pokharel

Hacker

Andrews

2016

gynaecol oncol res pract

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BackgroundGenetic testing for an inherited susceptibility to cancer is an emerging technology in medical practice. Little information is currently available about physicians’ attitudes towards these tests in developing countries.MethodsWe conducted an email survey of Nepalese physicians practicing in academic and non-academic settings in Nepal, regarding knowledge, attitudes and perception towards genetic testing for gynaecologic cancer.ResultsResponses were received from 251 of 387 practitioners (65%). Only 46% of all respondents felt prepared to answer patients’ questions about genetic testing for gynaecologic cancer, despite 80% reporting that patients had asked questions about genetic testing, and 55% being asked more than 5 times in the past year. 42% reported more than 10 of their patients having had genetic testing for cancer, the majority for BRCA1/2. Access (40%), cost (37%) and lack of physicians’ information (24%) were cited as the main barriers to testing. The most commonly identified concerns regarding genetic testing were the potential for increased patient anxiety, misinterpretation of results by patients, and maintaining confidentiality of results (64%, 47% and 38% of respondents respectively).ConclusionThis study shows the gap among the health care providers in developing countries and the available modern scientific tools and skills in regard to the benefits of genetic testing for gynaecological cancers in a developing nation. These findings indicate the need for the introduction of further genetic counselling education and support into gynaecological care in Nepal.Electronic supplementary materialThe online version of this article (doi:10.1186/s40661-016-0034-5) contains supplementary material, which is available to authorized users.

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A Pilot Study on Screening of BRCA1 Mutations (185delAG, 1294del40) in Nepalese Breast Cancer Patients

Cited by 10 publications

References 22 publications

Identification of Mutation in Exon11 of BRCA1 Gene in Bangladeshi Patients with Breast Cancer

Identification of Mutation in Exon11 of BRCA1 Gene in Bangladeshi Patients with Breast Cancer

Current status of breast cancer in Nepal

Genetic testing in a gynaecological oncology care in developing countries—knowledge, attitudes and perception of Nepalese clinicians

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