<i>BRCA1</i>/<i>BRCA2</i> mutation spectrum analysis in South Asia: a systematic review

Kharel, Sanjeev; Shrestha, Suraj; Yadav, Siddhartha; Shakya, Prafulla; Baidya, Sujita; Hirachan, Suzita

doi:10.1177/03000605211070757

Cited by 6 publications

(4 citation statements)

References 79 publications

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“…BRCA1 ex9-12del is the most common variant in Mexican patients [ 31 ], and BRCA1 c.5095C > T is the most common variant in Arab breast and ovarian cancer patients [ 32 ]. BRCA1 c.68_69delAG is the most common variant in South Asian patients [ 33 ] and Latina patients residing in southern California [ 34 ]. BRCA2 c.3922G > T is a founder mutation in the Puerto Rican population [ 35 ].…”

Section: Discussionmentioning

confidence: 99%

Germline variants profiling of BRCA1 and BRCA2 in Chinese Hakka breast and ovarian cancer patients

Zhang

et al. 2022

BMC Cancer

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Objective To investigate the prevalence and spectrum of BRCA1 and BRCA2 mutations in Chinese Hakka patients with breast and ovarian cancer. Methods A total of 1,664 breast or ovarian cancer patients were enrolled for genetic testing at our hospital. Germline mutations of the BRCA gene were analysed by next-generation sequencing, including the coding regions and exon intron boundary regions. Results The 1,664 patients included 1,415 (85.04%) breast cancer patients and 245 (14.72%) ovarian cancer patients, while four (0.24%) patients had both the breast and ovarian cancers. A total of 151 variants, including 71 BRCA1 variants and 80 BRCA2 variants, were detected in the 234 (14.06%) patients. The 151 variants included 58 pathogenic variants, 8 likely pathogenic variants, and 85 variants of unknown significance (VUS). A total of 56.25% (18/32) and 65.38% (17/26) of pathogenic variants (likely pathogenic variants are not included) were distributed in exon 14 of BRCA1 and exon 11 of BRCA2, respectively. The most common pathogenic variants among this Hakka population are c.2635G > T (p.Glu879*) (n = 7) in the BRCA1 gene and c.5164_5165del (p.Ser1722Tyrfs*4) (n = 7) in the BRCA2 gene among the Hakka population. A hotspot mutation in the Chinese population, the BRCA1 c.5470_5477del variant was not found in this Hakka population. The prevalence and spectrum of variants in the BRCA genes in the Hakka patients are different from that in other ethnic groups. Conclusions The most common pathogenic variant in this population is c.2635G > T in the BRCA1 gene, and c.5164_5165delAG in the BRCA2 gene in this population. The prevalence and spectrum of variants in the BRCA1 and BRCA2 genes in the Hakka patients from southern China are different from those in other ethnic groups.

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Section: Discussionmentioning

confidence: 99%

Germline variants profiling of BRCA1 and BRCA2 in Chinese Hakka breast and ovarian cancer patients

Zhang

et al. 2022

BMC Cancer

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“…The South Asian population exhibits diverse genetic alterations in BRCA1 and BRCA2, varying across countries and ethnicities. 11 Correspondingly, Jai Min Ryu et al conducted a study on Korean women which found that a total 131 Korean patients (13.1%) were found to have BRCA1/2 mutations, with 97 (9.7%) in BRCA1 and 35 (3.5%) in BRCA2. Recommendations indicated that Korean women diagnosed with triple-negative breast cancer (TNBC) at or before 60 years of age should undergo testing for BRCA1/2 mutations.…”

Section: Discussionmentioning

confidence: 99%

The Prevalence of BRCA1 and BRCA2 Mutations in Breast Cancer Patients

Goindani,

Rehman,

Siddiqa

et al. 2024

PJMHS

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Aim: Genetic mutations in BRCA1 and BRCA2 are crucial for breast cancer risk assessment and treatment planning. Methods: This prospective observational study at Jinnah Postgraduate Medical Centre, Pakistan, involved female breast cancer patients aged 18 or older. The sample size calculation was based on a 3.4% prevalence rate of BRCA mutations, aiming for a 95% confidence level. Data on demographic, clinical characteristics, and genetic testing for BRCA mutations were collected and analyzed using SPSS version 23. Results: Among the study participants, 10% exhibited BRCA1 or BRCA2 mutations. The majority were diagnosed at stage 3 tumor development, with invasive ductal carcinoma being the predominant histological type. No significant familial predisposition to breast cancer was noted among the majority. Educational status and ethnicity showed varying associations with BRCA mutation presence. Conclusion: The study highlights a modest incidence of BRCA mutations among Pakistani breast cancer patients, underscoring the importance of genetic testing for risk assessment and targeted treatment. The findings support the need for comprehensive genetic screening programs in Pakistan, considering the diverse demographic and clinical characteristics of the population. Keywords: BRCA mutations, breast cancer, genetic testing, Pakistan, risk assessment, targeted treatment.

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“…Recently, mutations in BRCA1 ( rs1799950), BRCA2 (rs 144848) and TP53 (rs1042522) were found to significantly contribute to the breast cancer risk in population of KPK, Pakistan 12 . About 30% of all inherited or genetic breast cancer attributes to the BRCA1/2 mutations 13 . 185delAG, a frame shift mutation, has been reported to a founder mutation of breast cancer in population of Punjab, Pakistan by Rashid.et al 14 .…”

Section: Prognostic Biomarkers Of Breast Cancer In Genomementioning

confidence: 99%

Breast Cancer in Pakistan - An Updated Overview

Rubi

Amir²,

Ashraf³

et al. 2022

Pak Postgrad Med J.

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Breast cancer is a leading cause of mortality in Pakistan due to cancer in females. Breast cancer has subtypes that inflict differently and owe to various factors that include our lifestyle and genetics. Pakistan has enhanced percentage in developing breast cancer in fourth decade of life in women. Numerous genomics and proteomics studies are being conducted in Pakistan for prognosis, diagnosis and treatment of breast cancer. This review focuses on the mutations in BRCA1/2 genes and other such genomic biomarkers. Moreover, this review emphasizes the advancements made in Pakistan for proteomic and metabolomics diagnosis of carcinoma.

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BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review

Cited by 6 publications

References 79 publications

Germline variants profiling of BRCA1 and BRCA2 in Chinese Hakka breast and ovarian cancer patients

Germline variants profiling of BRCA1 and BRCA2 in Chinese Hakka breast and ovarian cancer patients

The Prevalence of BRCA1 and BRCA2 Mutations in Breast Cancer Patients

Breast Cancer in Pakistan - An Updated Overview

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