MED12 somatic mutations encompassing exon 2 associated with benign breast fibroadenomas and not breast carcinoma in Indian women

Darooei, Mina; Khan, Fazal; Rehan, Mohd; Zubeda, Syeda; Jeyashanker, Erukambattu; Srirambhatla, Annapurna; Shah, Ashwin; Maddali, Srinivas; Hasan, Qurratulain

doi:10.1002/jcb.27293

Cited by 12 publications

(9 citation statements)

References 44 publications

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“…Besides that, codon 44 was found to be highly mutated and representing 86% of the mutations of FA. 19 The management of younger patients is usually more conservative when clinical, histological, and imaging criteria, including thick-needle aspiration biopsy, suggest a benign lesion. Lesions characterized by BI-RADS 2 follow a screening routine, whereas those characterized by BI-RADS 3 require a six-month ultrasound followup if lesions had been ultrasonographically observed, or a mammographic follow-up if lesions had been mammographically observed.…”

Section: Discussionmentioning

confidence: 99%

Complex fibroadenoma: bibliometric literature review and presentation of a clinical case

Cardoso¹,

Schröder²,

Zimermann³

et al. 2020

Mastology

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Fibroadenomas (FAs) are benign fibro-epithelial tumours of the breast characterized by being biphasic and having stromal and epithelial components. It is estimated that FAs affect more than 20 percent of the general population aged 16–40 years old. Complex FAs are a sub-type of fibroadenoma presenting one or more pathological characteristics, such as epithelial calcifications, apocrine metaplasias, sclerosing adenoma and cysts larger than 3 mm. According to studies elsewhere, women with complex FAs are 3.1 times more likely to develop breast cancer. The objective of the present study was to map the scientific production of articles on complex FA in the international literature. The ISI Web of Knowledge (Web of Science), one of the main scientific databases in the world, was searched with the following terms: (“complex” and “fibroadenoma”) or (“fibroadenoma” and “complex”). Only articles published between 1981 and 2019 were considered for a bibliometric review, in which 160 articles from 126 different periodicals were identified after using refinement filters. Moreover, a clinical case was also discussed based on the patient’s medical record and interview.

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Section: Discussionmentioning

confidence: 99%

Complex fibroadenoma: bibliometric literature review and presentation of a clinical case

Cardoso¹,

Schröder²,

Zimermann³

et al. 2020

Mastology

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“…Genomic DNA amplification was performed according to the method published earlier by Darooei et al in 2018 ( 9 ) with 30 cycles each consisting of denaturation at 94° C for 30 s , annealing at 60° C for 30 s , and extension at 72° C for 45 s with an initial denaturation at 94° C for 5 min .…”

Section: Methodsmentioning

confidence: 99%

Multiple Mutations in Exon-2 of Med-12 Identified in Uterine Leiomyomata

Firdaus¹,

Agrawal²,

Anagani³

et al. 2021

JRI

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Background: Uterine leiomyomata (UL), commonly known as uterine fibroids, are benign smooth muscle tumors of the myometrium. They cause pelvic pain, abnormal uterine bleeding, and infertility in women of reproductive age. The ovarian hormone estrogen is the main stimulator for the fibroid growth. The etiology is not yet clearly understood; however, UL are believed to be monoclonal tumors arising from a common progenitor cell. Chromosomal cytogenetic abnormalities have been demonstrated in 40-50% of the fibroids. The most frequent tumor specific genetic alterations in UL were identified in exon-2 of Mediator Complex Subunit 12 (MED-12). Methods: In the present study, twenty-two multiple fibroids were evaluated both from the same uterus and from different uteri, of four women, for somatic mutations in hotspot region of MED-12. The tissue DNA of the UL's was isolated, amplified by PCR visualized on gel and sent for Sanger sequencing. Results: The results indicate several variants in exon-2 and flanking intronic regions, seven exonic variants and five intronic variants which provide evidence that multiple UL in the same uterus may not be clonal in origin. Conclusion: This study indicates genetic heterogeneity. UL may not have a clonal origin, these exon-2 variants of MED-12 gene could be involved in UL progression.

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“…Using salting out method, genomic DNA was isolated from PCA, BPH and healthy controls as described earlier by us [17], [18]. DNA was quantified, checked for the quality using NanoDrop 2000/2000cc (Thermo Scientific TM ) and stored at -20 0 C until use [17].…”

Section: Methods Isolation Of Genomic Dnamentioning

confidence: 99%

Association of Regulatory Factor X 6 gene (rs339331) polymorphism with Prostate Cancer A case-control study from South India

Daram¹,

Poornima²,

Zubeda³

et al. 2019

IJSRBS

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Prostate Cancer (PCA) is a heterogeneous disease which exhibits clinical variability, morphological differences and molecular marker diversity. Currently, Prostate specific antigen (PSA) evaluation is the only clinically relevant non-invasive marker for PCA screening. A number of genome wide association studies (GWAS) have identified many susceptibility markers for PCA, one of which is a single nucleotide polymorphism (SNP) rs339331, in Regulatory Factor X 6 (RFX6) gene. The present study evaluated this polymorphism g.16677T>C of RFX6 gene, in PCA, benign prostate hyperplasia (BPH) and controls by PCR using specifically designed primers, followed by restriction digestion. Results show that the frequency of 'C' allele is 0.74 in PCA and 0.20 in BPH, which is lower than the frequency in controls, which is 0.35. The 'C' allele of RFX6 genotype is significantly associated with PCA (P<0.05). This is the first case-control study from India which shows an association of 'C' allele of RFX6 gene g.16677T>C polymorphism with high risk of developing PCA and a potential to use it as a biomarker for identifying men at risk of developing PCA.

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MED12 somatic mutations encompassing exon 2 associated with benign breast fibroadenomas and not breast carcinoma in Indian women

Cited by 12 publications

References 44 publications

Complex fibroadenoma: bibliometric literature review and presentation of a clinical case

Complex fibroadenoma: bibliometric literature review and presentation of a clinical case

Multiple Mutations in Exon-2 of Med-12 Identified in Uterine Leiomyomata

Association of Regulatory Factor X 6 gene (rs339331) polymorphism with Prostate Cancer A case-control study from South India

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