Problems in diagnostics of breast diseases

Background: The aim of the study was to determine the diagnostic problems encountered in breast diseases, their causes as well as the methods of the procedure in such cases. Material/Methods: Clinical and mammographic examinations were conducted in 5445 women aged 35-70 years. The patients were divided into 3 groups: group I comprised 4200 patients after screening (aged 50-69 years), group II - 915 (aged 40-49) and group III - 330 high-risk patients. Additional sonomamography was performed in 336 women (8%) in group I, 192 (21%) in group II and on all the patients in group III. Anamnesis, palpation, mammography (MMG) in 2 projections and magnified X-rays were performed. In cases of an unclear image the following procedures were undertaken: sonomammography (USG), fine needle aspiration (FNA), mammotomy and surgical biopsy The MMG and USG images were evaluated in BI-RADS scale. The false positive and false negative results were established. Results: In group I, 228 FNA biopsies (5.4%) were carried out, 55 cancers (1.3%), 32 false positive, 5 false negative radiological results were diagnosed. In II group 21 women underwent FNA, false positive radiological diagnoses occurred in 14 cases. In group III comprising 60 women who had undergone FNA, 18 cancers were observed. These proved false positive diagnosis in 8 cases and false negative in 4 cases. It was found, that the most common reasons for error were due to dense cysts displaying with irregular outlines and microcalcifications accompanying hormonal dysfunction. The displacement of tumors near the pectoral muscle or the nipple also interfered with establishing the correct diagnosis. Conclusions: The diagnostic problems can be due to the inherent limitations of the methods, the physical nature of the breast and localization of the changes. The diagnosis of the benign process should be established on the basis of radiological, cytological and histopathological methods. The radiologically unclear changes should be diagnosed with the use of FNA/ core biopsy, mammotomy or surgical biopsy. In cases of hormonal dysfunctions and during the conservative treatment, follow-up after 6 months is suggested

Obrazy mammograficzne i sonomammograficzne raka sutka u pacjentek obciążonych genetycznie, w tym z wykrytą mutacją BRCA1

Background: Carriers o f the BRCA1 mutation have 50-80% increased risk o f breast cancer. Therefore it is necessary to perform screening examinations regularly, more frequently than in the normal population. We suggest beginning mammography at 35 years of age, which significantly increases the chance of early detection of the cancer. Material/Methods: A total of 293 women aged 20-60 years were analyzed. All the women were examined at the Hereditary Cancer Center. Mammography and sonomammography were performed on all patients. Mammograms of women who had undergone mastectomy were evaluated retrospectively. Results: Benign-like changes, such as dense cysts or fibroadenomas, in the carrier group of the BRCA1 gene mutation were found in 40.5% of the women. Dynamic growth of the tumor was symptomatic. In the remaining group of women, morphology o f the detected cancers revealed large, stagingdependent variability. Conclusion: On the basis of these findings we can conclude that cancer in women with the BRCA1 gene mutation can have a benign-like morphology, but with rapid tumor growth. Therefore all suspicious or atypical changes should be verified histopathologically

The 3020insC Allele of NOD2 Predisposes to Cancers of Multiple Organs

The NOD2 gene has been associated with susceptibility to Crohn's disease and individuals with Crohn's disease are at increased risk for cancer at a number of organ sites. We studied the association between the 3020insC allele of the NOD2 gene and cancer among 2604 cancer patients and 1910 controls from Poland. Patients were diagnosed with one of twelve types of cancer in the Szczecin region between 1994 and 2004. Significant associations were found for colon cancer (OR = 1.8; 95% CI 1.2 to 2.6), for lung cancer (OR = 1.7; 95% CI = 1.1 to 2.5) and for ovarian cancer (OR = 1.6; 95% CI 1.1 to 2.3). In addition, a significant association was found for early-onset laryngeal cancer (OR = 2.9; 95% CI 1.4 to 6.2) and for breast cancer in the presence of DCIS (OR = 2.1 95% CI = 1.2 to 3.6). The NOD2 3020insC allele is relatively common (in Poland 7.3% of individuals) and may be responsible for an important fraction of cancer cases. We estimate that the lifetime cancer risk among carriers of this allele is 30% higher than that of individuals with two wild-type alleles

Blood Arsenic Levels as a Marker of Breast Cancer Risk among BRCA1 Carriers

Funding Information: Funding: The study was funded by the National Centre for Research and Development Projects. INNOMED/1/16/NCBR/2014 and PBS3/B7/26/2015. Publisher Copyright: © 2021 by the authors. Licensee MDPI, Basel, Switzerland.An important group of breast cancers is those associated with inherited susceptibility. In women, several predisposing mutations in genes involved in DNA repair have been discovered. Women with a germline pathogenic variant in BRCA1 have a lifetime cancer risk of 70%. As part of a larger prospective study on heavy metals, our aim was to investigate if blood arsenic levels are associated with breast cancer risk among women with inherited BRCA1 mutations. A total of 1084 participants with pathogenic variants in BRCA1 were enrolled in this study. Subjects were followed from 2011 to 2020 (mean follow-up time: 3.75 years). During that time, 90 cancers were diagnosed, including 67 breast and 10 ovarian cancers. The group was stratified into two categories (lower and higher blood As levels), divided at the median (<0.85 µg/L and ≥0.85 µg/L) As level among all unaffected participants. Cox proportional hazards models were used to model the association between As levels and cancer incidence. A high blood As level (≥0.85 µg/L) was associated with a significantly increased risk of developing breast cancer (HR = 2.05; 95%CI: 1.18–3.56; p = 0.01) and of any cancer (HR = 1.73; 95%CI: 1.09–2.74; p = 0.02). These findings suggest a possible role of environmental arsenic in the development of cancers among women with germline pathogenic variants in BRCA1.Peer reviewe

Ovarian cancer risk in Polish BRCA1 mutation carriers is not associated with the prohibitin 3' untranslated region polymorphism

<p>Abstract</p> <p>Background</p> <p>The variable penetrance of ovarian cancer in <it>BRCA1 </it>mutation carriers suggests that other genetic or environmental factors modify disease risk. The C to T transition in the 3' untranslated region of the prohibitin (<it>PHB</it>) gene alters mRNA function and has recently been shown to be associated with hereditary breast cancer risk in Polish women harbouring <it>BRCA1 </it>mutations.</p> <p>Methods</p> <p>To investigate whether the <it>PHB </it>3'UTR polymorphism also modifies hereditary ovarian cancer risk, we performed a case-control study among Polish women carrying one of the three common founder mutations (5382insC, 300 T > G, 4154delA) including 127 ovarian cases and 127 unaffected controls who had both breasts and ovaries intact. Controls were matched to cases by year of birth and <it>BRCA1 </it>mutation. Genotyping analysis was performed using PCR-based restriction fragment length polymorphism analysis. Odds ratios (OR) were calculated using conditional and penalized univariable and multivariable logistic regression.</p> <p>Results</p> <p>A comparison of the genotype frequencies between cases and controls revealed no association of the <it>PHB </it>3'UTR _CT+TT genotypes with ovarian cancer risk (OR_adj1.34; 95% CI, 0.59–3.11).</p> <p>Conclusion</p> <p>Our data suggest that the <it>PHB </it>3'UTR polymorphism does not modify ovarian cancer risk in women carrying one of the three Polish <it>BRCA1 </it>founder mutations.</p