BRCA1 Gene's EXON 11 and Breast Carcinoma: A Mutational Hot Spot for Familial Patients and Prone to Metastases in Northern India

Pandey, AK Singh A

doi:10.4172/2161-0681.1000219

Cited by 2 publications

(3 citation statements)

References 20 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…(2015) identified 12 sequence variants of BRCA1 in the study group, including 10 frameshifts, 1 missense, and 1 nonsense mutation. 30 …”

Section: Resultsmentioning

confidence: 99%

“…This study screened a total of 1768 female BC patients and 573 BC families for exploring the BRCA1 mutations, and 1347 female BC patients and 573 BC families for BRCA2 mutations (Supplementary File 2). 15,[21][22][23][24][25][26][27][28][29][30][31][32][33][34][35][36][37][38][39]…”

Section: Brca1 and Brca2 Mutationsmentioning

confidence: 99%

“…variants of BRCA1 in the study group, including 10 frameshifts, 1 missense, and 1 nonsense mutation. 30 In 2016, Mannan et al conducted a multi-gene sequencing analysis among 141 unrelated patients. 31 Fifty-one pathogenic cases (36.2%) included 19 novel mutations.…”

Section: Singh Et Al (2015) Identified 12 Sequencementioning

confidence: 99%

See 2 more Smart Citations

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

et al. 2022

View full text Add to dashboard Cite

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.

show abstract

“…(2015) identified 12 sequence variants of BRCA1 in the study group, including 10 frameshifts, 1 missense, and 1 nonsense mutation. 30 …”

Section: Resultsmentioning

confidence: 99%