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

2022 ◽  
Vol 50 (1) ◽  
pp. 030006052110707
Author(s):  
Sanjeev Kharel ◽  
Suraj Shrestha ◽  
Siddhartha Yadav ◽  
Prafulla Shakya ◽  
Sujita Baidya ◽  
...  
Keyword(s):  
South Asian ◽  
Cancer Susceptibility ◽  
Brca2 Mutation ◽  
Brca2 Gene ◽  
Mutation Spectrum ◽  
Quality Data ◽  
Brca1 And Brca2 ◽  
Exon 2 ◽  
Cancer Susceptibility Genes ◽  
Brca1 Brca2

Objective Breast cancer (BC) is the most common form of cancer among Asian females. Mutations in the BRCA1/ BRCA2 genes are often observed in BC cases and largely increase the lifetime risk of having BC. Because of the paucity of high-quality data on the molecular spectrum of BRCA mutations in South Asian populations, we aimed to explore these mutations among South Asian countries. Methods A systematic literature search was performed for the BRCA1 and BRCA2 gene mutation spectrum using electronic databases such as PubMed, EMBASE, and Google Scholar. Twenty studies were selected based on specific inclusion and exclusion criteria. Results The 185delAG (c.68_69del) mutation in exon 2 of BRCA1 was the most common recurrent mutation and founder mutation found. Various intronic variants, variants of unknown significance, large genomic rearrangements, and polymorphisms were also described in some studies. Conclusions The South Asian population has a wide variety of genetic mutations of BRCA1 and BRCA2 that differ according to countries and ethnicities. A stronger knowledge of various population-specific mutations in these cancer susceptibility genes can help provide efficient strategies for genetic testing.

scholarly journals BRCA 1/2 Mutation Spectrum Analysis in South Asia: A Systematic Review

2021 ◽  
Author(s):  
Sanjeev Kharel ◽  
Suraj Shrestha ◽  
Siddhartha Yadav ◽  
Prafulla Shakya ◽  
Suzita Hirachan ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Gene Mutation ◽  
South Asian ◽  
Asian Population ◽  
Mutation Spectrum ◽  
Quality Data ◽  
The South ◽  
South Asian Population ◽  
Exon 2 ◽  
Cancer Susceptibility Genes

Abstract Background: Breast cancer (BC) is the most common form of all cancers among Asian females. Mutations in BRCA1/BRCA2 gene are observed in BC cases and also largely increases the lifetime risk of having BC. Because of the paucity of high-quality data on the molecular spectrum of BRCA mutations in South Asian populations, we aimed to explore the spectrum of BRCA gene mutation among the South Asian Population.Methods: A systematic literature search of electronic databases like PubMed, EMBASE, and Google Scholar on BRCA1 and BRCA2 gene mutation spectrum was carried out for peer-reviewed articles providing information on the spectrum of either BRCA1 or BRCA2 gene mutation on South Asian women with any form of breast cancer.Results: Twenty studies were selected for review from four South Asian countries showing similar BRCA1/2 gene mutation patterns. 185delAG mutation in exon 2 in BRCA1 was the most common recurrent mutation and founder mutation found. Various intronic variants, variants of unknown significance, large genomic rearrangements (LGRs) and polymorphisms are also described in some studies. Conclusions: The prevalence of BRCA1 mutations is higher than BRCA2 mutations in the South Asian population with a wide variation among different countries and ethnicities. The knowledge of various population-specific mutations in these cancer susceptibility genes can help provide efficient strategies for genetic testing.

scholarly journals Management Options after Prophylactic Surgeries in Women with BRCA Mutations: A Review

2007 ◽  
Vol 14 (4) ◽  
pp. 330-337 ◽  
Author(s):  
Dawn C. Allain ◽  
Kevin Sweet ◽  
Doreen M. Agnese
Keyword(s):  
Medical Management ◽  
Cancer Susceptibility ◽  
Brca Mutation ◽  
Brca2 Gene ◽  
Brca1 And Brca2 ◽  
Management Options ◽  
Cancer Susceptibility Genes ◽  
Mutation Carriers ◽  
Increased Risk ◽  
Brca Mutation Carriers

Background Although breast cancer is relatively common, only about 5% of cases are due to inheritance of highly penetrant cancer susceptibility genes. The majority of these are caused by mutations in the BRCA1 and BRCA2 genes, which are also associated with an increased risk of ovarian cancer. Increased surveillance, chemoprevention, and prophylactic surgeries are standard options for the effective medical management of mutation carriers. However, optimal management of female carriers who choose to undergo prophylactic surgeries is still poorly understood. Methods The authors provide an overview of the current literature regarding medical management options for women carriers of BRCA1 and BRCA2 gene mutations and the implications for those individuals who have chosen to undergo prophylactic surgeries. Results BRCA mutation carriers who opt for prophylactic surgeries are still at risk for development of malignancy, and appropriate monitoring is warranted. Conclusions There are limited data on the appropriate medical management for BRCA mutation carriers after prophylactic surgeries. However, a management plan can be extrapolated from the general management recommendations for surveillance and other risk-reducing strategies in BRCA-positive individuals.

Retesting of women who are negative for a BRCA1 and BRCA2 mutation using a 20-gene panel

2019 ◽  
Vol 57 (6) ◽  
pp. 380-384 ◽  
Author(s):  
Jordan Lerner-Ellis ◽  
Victoria Sopik ◽  
Andrew Wong ◽  
Conxi Lázaro ◽  
Steven A Narod ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Cancer Susceptibility ◽  
Brca2 Mutation ◽  
Pathogenic Variant ◽  
Cancer Genes ◽  
Breast And Ovarian Cancer ◽  
Brca1 And Brca2 ◽  
Variant Of Uncertain Significance ◽  
Pathogenic Variants ◽  
Cancer Susceptibility Genes

BackgroundThe value of retesting women who previously tested negative for a pathogenic variant (mutation) in BRCA1 and BRCA2 using an expanded panel of breast and ovarian cancer genes is unclear.MethodsWe studied 110 BRCA1/2-negative women who were retested using a panel of 20 breast and/or ovarian cancer susceptibility genes at the Advanced Molecular Diagnostics Laboratory (AMDL) at Mount Sinai Hospital in Toronto between March 2017 and March 2019. All patients had previously tested negative for BRCA pathogenic variants at the AMDL between January 2012 and March 2018 and were subsequently referred for retesting by their physician.ResultsOverall, six pathogenic variants in genes other than BRCA1 and BRCA2 were found (prevalence 5.5%). There were two pathogenic variants found in RAD51C, and one found in each of BRIP1, PALB2, PMS2 and PTEN. The prevalence of pathogenic variants was 6.5% for women affected with cancer (6 of 93), including 4.9% for women with breast cancer (4 of 82) and 22.2% for women with ovarian cancer (2 of 9). None of the 17 unaffected women had a clinically significant or pathogenic variant. There were 44 women (40%) for whom the result of the panel test was inconclusive due to the detection of a variant of uncertain significance.ConclusionsOur findings indicate that the retesting of BRCA1/2-negative individuals with an expanded panel of 20 breast and ovarian cancer genes can produce clinically relevant results, with a yield of 5.5% for pathogenic variants in genes other than BRCA1 and BRCA2.

scholarly journals Clinical Implications of the Breast Cancer Susceptibility Genes BRCA1 and BRCA2

2005 ◽  
Vol 1 (1) ◽  
pp. 27-34
Author(s):  
Steven A Narod
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Cancer Susceptibility ◽  
Cancer Chemoprevention ◽  
Breast Cancer Susceptibility ◽  
High Risk Population ◽  
Clinical Genetics ◽  
Breast And Ovarian Cancer ◽  
Brca1 And Brca2 ◽  
Cancer Susceptibility Genes

Genetic testing for BRCA1 and BRCA2 mutations has become an important part of the practice of medical oncology and clinical genetics over the past decade. Increasing numbers of women are requesting a genetic test so that they may better understand their personal risks of breast and ovarian cancer, and so that they may take appropriate measures to reduce the risk. Several of the risk factors can be modified, including breastfeeding and the use of oral contraceptives. A significant number of women opt for preventive mastectomy or oophorectomy, which will dramatically reduce the risks of breast and ovarian cancer. Chemoprevention with tamoxifen is still uncommon, largely due to women's fears of the side effects of the drug. A number of studies have shown that magnetic resonance imaging is superior to conventional mammography in terms of the early detection of breast cancer in the high-risk population. This article explores what is known about assessing genetic risk and the evidence supporting a range of preventive strategies.

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