Increased Chromosomal Radiosensitivity in Women Carrying BRCA1/BRCA2 Mutations Assessed With the G2 Assay

Beroukas, Ernestos; Pandis, N.; Koulis, Giannoukakos; Rizou, Eleni; Beroukas, K.; Alexandra, Giatromanolaki; Koukourakis, Michael

doi:10.1016/j.ijrobp.2009.10.020

Cited by 53 publications

(37 citation statements)

References 47 publications

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“…Chromosomal radiosensitivity as measured by the G2-chromosome break assay has been reported to be associated with alterations in a number of DDR deficient disorders including inherited breast cancer susceptibility, ataxia telangiectasia, retinoblastoma, Cockayne's syndrome, and xeroderma pigmentosum [Parshad et al, 1985;Price et al, 1991;Sanford et al, 1996;Ernestos et al, 2010]. To this list, we now add polymorphisms in TP53 codon-72.…”

Section: Discussionmentioning

confidence: 99%

“…It has been reported to identify cancer susceptibility in a number of different populations, including women at risk of developing breast cancer [Sanford et al, 1989;Sanford and Parshad, 1999;Baria et al, 2001;Scott, 2004]. There is no one genotype associated with sensitivity in this assay, and a variety of different DDR elements have been reported to influence response [Parshad et al, 1985;Price et al, 1991;Sanford et al, 1996;Ernestos et al, 2010].…”

Section: Introductionmentioning

confidence: 99%

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Tp53 codon‐72 polymorphisms identify different radiation sensitivities to g2‐chromosome breakage in human lymphoblast cells

Schwartz

Plotnik

Slovic

et al. 2010

Environ and Mol Mutagen

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Both the G2 chromosomal radiosensitivity assay and allelic differences in TP53 codon-72 have been associated with cancer predisposition. The relationship between the two endpoints was determined in 56 human EBV-transformed lymphoblastoid cell lines. Although there were overlapping distributions of sensitivity for the different genotypes, cell lines that were homozygous for the proline coding allele were more likely to be resistant to chromatid break formation than those containing two arginine coding alleles, whereas cell lines expressing both the proline and arginine codon were either resistant like proline-proline lines or sensitive like arginine-arginine lines. The results support an important role of the TP53 codon-72 polymorphism in modifying G2-chromosome radiosensitivity. Distinguishing the effect of TP53 codon-72 variations from other modifiers of G2-chromosome radiosensitivity might aid in identifying new markers of cancer risk.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Tp53 codon‐72 polymorphisms identify different radiation sensitivities to g2‐chromosome breakage in human lymphoblast cells

Schwartz

Plotnik

Slovic

et al. 2010

Environ and Mol Mutagen

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“…Each patient underwent clinical breast examination, DM, and DBT; the medical history was also evaluated. We decided to exclude from our study asymptomatic patients with predominantly fatty breasts (ACR BI-RADS a, b [9]), patients who carry mutations in BRCA 1/2 due to the increased radiosensitivity [10,11], and those with a possible pregnancy.…”

Section: Methodsmentioning

confidence: 99%

Added Value of Digital Breast Tomosynthesis Combined with Digital Mammography According to Reader Agreement: Changes in BI-RADS Rate and Follow-Up Management

et al. 2017

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Background: The aim of this study was to evaluate the added value of digital breast tomosynthesis (DBT) when combined with digital mammography (DM) in BI-RADS assessment and follow-up management. Methods: From February 2014 to January 2015, 214 patients underwent DM and DBT, acquired with a Siemens Mammomat Inspiration unit. 2 expert readers independently reviewed the studies in 2 steps: DM and DM+DBT, according to BI-RADS rate. Patients with BI-RADS 0, 3, 4, and 5 were recalled for work-up. Inter-reader agreement for BI-RADS rate and work-up rate were evaluated using Cohen's kappa. Results: Inter-reader agreement (κ value) for BI-RADS classification was 0.58 for DM and 0.8 for DM+DBT. DM+DBT increased the number of BI-RADS 1, 2, 4, 5 and reduced the number of BI-RADS 0 and 3 for both readers compared to DM alone. Regarding work-up rate agreement, κ was poor for DM and substantial (0.7) for DM+DBT. DM+DBT also reduced the work-up rate for both Reader 1 and Reader 2. Conclusion: DM+DBT increased the number of negative and benign cases (BI-RADS 1 and 2) and suspicious and malignant cases (BI-RADS 4 and 5), while it reduced the number of BI-RADS 0 and 3. DM+DBT also improved inter-reader agreement and reduced the overall recall for additional imaging or short-interval follow-up.

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“…In addition, concerns have been raised about the risks of earlier and repeated radiation exposure in women already at increased breast cancer risk. 3,4,5 Screening mammography has been shown to decrease breast cancer mortality in the general population 6,7 . The use of screening MRI has been shown to identify cancers at smaller sizes and earlier stages in women at increased breast cancer risk.…”

Section: Introductionmentioning

confidence: 99%

Annual Screening Strategies in BRCA1 and BRCA2 Gene Mutation Carriers: A Comparative Effectiveness Analysis

Lee¹

2013

Breast Diseases: A Year Book Quarterly

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Increased Chromosomal Radiosensitivity in Women Carrying BRCA1/BRCA2 Mutations Assessed With the G2 Assay

Cited by 53 publications

References 47 publications

Tp53 codon‐72 polymorphisms identify different radiation sensitivities to g2‐chromosome breakage in human lymphoblast cells

Tp53 codon‐72 polymorphisms identify different radiation sensitivities to g2‐chromosome breakage in human lymphoblast cells

Added Value of Digital Breast Tomosynthesis Combined with Digital Mammography According to Reader Agreement: Changes in BI-RADS Rate and Follow-Up Management

Annual Screening Strategies in BRCA1 and BRCA2 Gene Mutation Carriers: A Comparative Effectiveness Analysis

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