Evidence map›Paper›PMID 35020120›Full record

ArticleMolecular biology reports2022

Analysis of pathogenic variants in BRCA1 and BRCA2 genes using next-generation sequencing in women with triple negative breast cancer from South India.

Taruna Rajagopal, Arun Seshachalam, Arunachalam Jothi, Krishna Kumar Rathnam, Srikanth Talluri, Sivaramakrishnan Venkatabalasubranian, Nageswara Rao Dunna

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Article in Molecular biology reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
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4citing papers in PubMed, 1 pooled it
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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

Who cites it

4 citing papers in PubMed, 1 synthesis or guideline pooled it.

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4 · The record

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PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Taruna RajagopalCancer Genomics Laboratory, Department of Biotechnology, School of Chemical and Biotechnology, SASTRA - Deemed University, Thanjavur, 613 401, India.
Arun SeshachalamDepartment of Medical and Paediatric Oncology, Dr.G.V.N Cancer Institute, Singarathope, Trichy, 620 008, India.
Arunachalam JothiDepartment of Bioinformatics, School of Chemical and Biotechnology, SASTRA - Deemed University, Thanjavur, 613 401, India.
Krishna Kumar RathnamDepartment of Hemato Oncology - Medical Oncology and Bone Marrow Transplantation, Meenakshi Mission Hospital & Research Centre, Madurai, 625 107, India.
Srikanth TalluriDana Farber Cancer Institute, Boston, MA, 02215, USA.
Sivaramakrishnan VenkatabalasubranianDepartment of Genetic Engineering, Faculty of Engineering and Technology, SRM Institute of Science and Technology, Kattankulathur Campus, Chennai, Tamil Nadu, 603 203, India.
Nageswara Rao DunnaCancer Genomics Laboratory, Department of Biotechnology, School of Chemical and Biotechnology, SASTRA - Deemed University, Thanjavur, 613 401, India. dnrao@biotech.sastra.edu.ORCID http://orcid.org/0000-0001-5870-1035

Funding

Science and Engineering Research Board YSS/2015/001692
6 · The paper itself

Abstract

backgroundThe frequency of triple-negative breast cancer (TNBC) incidence varies among different populations suggesting the involvement of genetic components towards TNBC development. Previous studies have reported that BRCA1/2 germline mutations confer a lifetime risk of developing TNBC. However, there is hardly any information regarding the common pathogenic variants (PVs) in BRCA1/2 genes that contribute to TNBC in the Indian population. Hence, we screened for PVs in BRCA1/2 and their association with clinico-pathological features in TNBC patients. METHODS AND

resultsThe study recruited 59 TNBC patients without hereditary breast and ovarian cancer (HBOC) from South India. The entire BRCA1 and BRCA2 genes were sequenced for the 59 patients using the Illumina HiSeq X Ten sequencer. Among the 59 TNBC genomic DNA samples sequenced, BRCA mutations were identified in 8 patients (13.6%), BRCA1 mutations in 6 patients, and BRCA2 mutations in 2 patients. Among the 6 BRCA1 mutations, three were c.68_69delAG (185delAG) mutation. Remarkably, all the TNBC patients with BRCA mutations exhibited higher-grade tumors (grade 2 or 3). However, among all the BRCA mutation carriers, only one patient with a BRCA2 mutation (p.Glu1879Lys) developed metastasis.

conclusionOur data advocates that South Indian women with higher grade TNBC tumors and without HBOC could be considered for BRCA mutation screening, thereby enabling enhanced decision-making and preventive therapy.

Indexed as

BRCA1 ProteinBRCA2 ProteinTriple Negative Breast NeoplasmsBreast NeoplasmsFemaleGenes, BRCA2Genetic Predisposition to DiseaseGerm-Line MutationHigh-Throughput Nucleotide SequencingHumansOvarian NeoplasmsBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, humanBRCA1BRCA2Pathogenic variantsTriple-negative breast cancer (TNBC)

Identifiers

PMID35020120

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