Related Experiment Video
Updated: Feb 10, 2026
A Quantitative Sensory Testing Paradigm to Obtain Measures of Pain Processing in Patients Undergoing Breast Cancer Surgery
Published on: January 18, 2018
Prevalence of deleterious mutations among patients with breast cancer referred for multigene panel testing in a
Iulian Gabriel Goidescu1,2, Gabriela Caracostea1, Dan Tudor Eniu3
1Department of Obstetrics and Gynecology I, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania.
Aim:
Multigene panel testing for Hereditary Breast and Ovarian Cancer (HBOC) using next generation sequencing is becoming more common in medical care.We report our experience regarding deleterious mutations of high and moderate-risk breast cancer genes (BRCA1/2, TP53, STK11, CDH1, PTEN, PALB2, CHEK2, ATM), as well as more recently identified cancer genes, many of which have increased risk but less well-defined penetrance.
Methods:
Genetic testing was performed in 130 consecutive cases with breast cancer referred to our clinic for surgical evaluation and who met the 2016 National Comprehensive Cancer Network (NCCN) criteria for genetic testing.
Results:
82 patients had pathogenic/likely pathogenic mutations and VUS mutations, and 48 were negative; 36 of the pathogenic mutations were in the high-risk genes and 16 were in the moderate risk genes and only 5 cases in the intermediary risk group.From the VUS mutation group 21 cases were in the intermediary risk group, 9 cases were in the moderate risk group and only 7 cases in high risk group.The most frequent BRCA1 variant was c.3607C>T (7 cases) followed by c.5266dupC and c.4035delA (each in 4 cases). Regarding BRCA-2 mutations we identified c.9371A>T and c.8755-1G>A in 6 cases and we diagnosed VUS mutations in 3 cases.
Conclusion:
Our study identified 2 mutations in the BRCA1 gene that are less common in the Romanian population, c.3607C>T and c.4035delA. Both variants had particular molecular phenotypes, c.3607C>T variant respecting the triple negative pattern of BRCA1 breast cancer while c.4035delA were Luminal B HER positive.
Related Concept Videos
01:11Testing a Claim about Mean: Known Population SD
Estimating a population mean requires the samples to be distributed normally. The data should be collected from the randomly selected samples having no sampling bias. The sample size needed to be higher than 30, and most importantly, the population standard deviation should be already known.
In most realistic situations, the population standard deviation is often unknown, but in rare circumstances, when it...
01:08Prevalence and Incidence
Prevalence indicates the proportion of individuals in a population who have a specific disease or health...
01:24Testing a Claim about Population Proportion
There are two methods of testing a claim about a population proportion: (1) Using the sample proportion from the data where a binomial distribution is approximated to the normal distribution and (2) Using the binomial probabilities calculated from the data.
The first method uses normal distribution as an approximation to the binomial distribution. The requirements are as follows: sample size is large...
01:21Testing a Claim about Mean: Unknown Population SD
Estimating a population mean requires the samples to be approximately normally distributed. The data should be collected from the randomly selected samples having no sampling bias. There is no specific requirement for sample size. But if the sample size is less than 30, and we don't know the population standard deviation, a different approach is used;...
01:39Mutations
01:09Mutation, Gene Flow, and Genetic Drift