BRCA1 5382insC founder mutation has not a significative recurrent presence in Northeastern Romanian cancer patients

Vol. 56 No. 2 Suppl., 2015
This supplement was not sponsored by Outside Organizations.


Lucian Negura, Cristian Petru Dusa, Miruna Ioana Balmus, Doina Azoicai, Anca Mihaela Negura, Mihai Vasile Marinca, Lucian Miron

Developed two decades ago, oncogenetic medical practice mainly concern breast, ovarian and colorectal cancers, and is targeting the hereditary risk factor, the only one that shows positive predictive value justifying the molecular diagnosis. Screening for BRCA1 and BRCA2 gene mutations is standard practice today for hereditary breast and ovarian cancer (HBOC) families in developed countries, offering the possibility of medical follow-up. The gold standard for molecular diagnosis is Sanger sequencing of all exons and exon-intron boundaries, which is expensive and time consuming. More than 3000 BRCA sequence variants are reported in international databases, but in some populations or ethnic groups a few founder mutations showed to have a recurrent presence. This may be very useful in establishing a combined technical approach for mutation detection, including rapid and cheap pre-screening methods for most common mutations. The BRCA1 5382insC mutation has an Ashkenazi founder effect and is also the second most recurrent mutation in Eastern European populations, having been already identified in several Romanian HBOC patients. Here we present a complete screening of consecutive series of breast and ovarian cancer patients for the presence of BRCA1 5382insC. The presence of the mutation was investigated by allele specific multiplex-PCR on genomic DNA extracted from peripheral blood. No mutation carrier was identified among breast or ovarian cancer patients. Our findings suggest that BRCA1 5382insC may not have a strong recurrent effect in Romanian population comparing to neighboring countries. This may be particularly useful in establishing further pre-screening strategies.

Corresponding author: Lucian Negura, Lecturer, PhD; e-mail:

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Theodor Viorel Dumitrescu, Constantin Daniel Uscatu, Stelian Stefanita Mogoanta, Dragos Ovidiu Alexandru, Alexandra Dumitrescu, Michael Schenker, Cristian Mesina, Elena-Raluca Nicoli, Dan Ionut Gheonea, Manuela Vasile, Iancu Emil Plesea

Aim: New blood vessel formation (angiogenesis) is a fundamental event in the process of tumor growth and metastatic dissemination. The aim was to evaluate intratumoral vascular density (ITMVD) and to analyze possible correlations between ITMVD and the morphological profile of colorectal carcinoma. Materials and Methods: The studied group consisted of 50 patients that underwent surgery for colorectal tumors, 12 of them receiving preoperatory radiotherapy. The analyzed morphological parameters were tumor site, tumor gross aspect, tumor longitudinal and transverse diameter, tumor grading, local invasion (pT), regional invasion (pN), distant metastases (pM) and intratumoral microvessel density (ITMVD) expressed as number of capillaries/mm(2). The malignant tissue samples were included in paraffin blocks and serial tissue sections were cut both for Hematoxylin-Eosin staining and CD34 immunomarking. For each case, five consecutive fields without necrosis were randomly selected with x10 objective. Quantitative measurements were performed using special software for image analysis. Results: For non-irradiated colorectal tumors, ITMVD was the highest in rectal localization, in infiltrative tumors, in circumferential tumors, in tumors with low longitudinal extension, in moderately differentiated (G2) tumors and in pT4, pN0 and pM1 tumors. Discussion: Correlations showed different trends of ITMVD depending on each parameter: ITMVD was higher when the tumor was closer to the rectum, when it was more infiltrative, more circumferential or with low longitudinal diameter. These trends might be exploited in defining future anti-angiogenic therapeutic strategies. Conclusions: There were some interesting correlations between ITMVD and studied morphological parameters that have to be validated on larger series of cases.

Corresponding author: Stelian Stefanita Mogoanta, Assistant Professor, MD, PhD; e-mail:

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