A practical approach to the ESC 2022 cardio-oncology guidelines. Comments by a team of experts: cardiologists and oncologists

The 2022 European Society of Cardiology (ESC) guidelines [1] are a comprehensive document, prepared jointly by experts in cardiology and oncology. In the case of an oncological patient, it is necessary to individualize care in relation to the cardiological condition, the stage of the cancer and the type of potential anti-cancer therapy. Cardiac care optimisation should be undertaken before the start of oncological therapy, and continued during oncological therapy, as well as long-term after its completion [2]. The published ESC Guidelines were supplemented with a practical comments of a team of polish cardiology and oncology experts

Genetic predisposition to male breast cancer in Poland

Abstract Background Breast cancer in men accounts for fewer than 1 % of all breast cancer cases diagnosed in men and women. Genes which predispose to male breast cancer include BRCA1 and BRCA2. The role of other genes is less clear. In Poland, 20 founder mutations in BRCA1, BRCA2, CHEK2, PALB2, NBN, RECQL are responsible for the majority of hereditary breast cancer cases in women, but the utility this genes panel has not been tested in men. Methods We estimated the prevalence of 20 alleles in six genes (BRCA1, BRCA2, CHEK2, PALB2, NBN, RECQL) in 165 Polish male breast cancer patients. We compared the frequency of selected variants in male breast cancer cases and controls. Results One of the 20 mutations was seen in 22 of 165 cases (13.3%). Only one BRCA1 mutation and two BRCA2 mutations were found. We observed statistically significant associations for PALB2 and CHEK2 truncating mutations. A PALB2 mutation was detected in four cases (OR = 11.66; p < 0.001). A CHEK2 truncating mutation was detected in five cases (OR = 2.93;p = 0.02). Conclusion In conclusion, we recommend that a molecular test for BRCA1, BRCA2, PALB2 and CHEK2 recurrent mutations should be offered to male breast cancer patients in Poland

Dietary thylakoids suppress blood glucose and modulate appetite-regulating hormones in pigs exposed to oral glucose tolerance test

SummaryBackground & aimsDietary chloroplast thylakoids have previously been found to reduce food intake and body weight in animal models, and to change metabolic profiles in humans in mixed-food meal studies. The aim of this study was to investigate the modulatory effects of thylakoids on glucose metabolism and appetite-regulating hormones during an oral glucose tolerance test in pigs fed a high fat diet.MethodsSix pigs were fed a high fat diet (36 energy% fat) for one month before oral glucose tolerance test (1 g/kg d-glucose) was performed. The experiment was designed as a cross-over study, either with or without addition of 0.5 g/kg body weight of thylakoid powder.ResultsThe supplementation of thylakoids to the oral glucose tolerance test resulted in decreased blood glucose concentrations during the first hour, increased plasma cholecystokinin concentrations during the first two hours, and decreased late postprandial secretion of ghrelin.ConclusionDietary thylakoids may be a novel agent in reducing the glycaemic responses to high carbohydrate and high glycaemic index foods. Thylakoids may in the future be promising for treatment and prevention of diabetes, overweight and obesity

Recurrent Mutations in <i>BRCA1</i>, <i>BRCA2</i>, <i>RAD51C</i>, <i>PALB2</i> and <i>CHEK2</i> in Polish Patients with Ovarian Cancer

The aim of the study was to analyze the frequency and magnitude of association of 21 recurrent founder germline mutations in BRCA1, BRCA2, PALB2, RAD51C, and CHEK2 genes with ovarian cancer risk among unselected patients in Poland. We genotyped 21 recurrent germline mutations in BRCA1 (9 mutations), BRCA2 (4 mutations), RAD51C (3 mutations), PALB2 (2 mutations), and CHEK2 (3 mutations) among 2270 Polish ovarian cancer patients and 1743 healthy controls, and assessed the odds ratios (OR) for developing ovarian cancer for each gene. Mutations were detected in 369 out of 2095 (17.6%) unselected ovarian cancer cases and 117 out of 1743 (6.7%) unaffected controls. The ovarian cancer risk was associated with mutations in BRCA1 (OR = 40.79, 95% CI: 18.67–114.78; p = 0.29 × 10−15), in BRCA2 (OR = 25.98; 95% CI: 1.55–434.8; p = 0.001), in RAD51C (OR = 6.28; 95% CI 1.77–39.9; p = 0.02), and in PALB2 (OR 3.34; 95% CI: 1.06–14.68; p = 0.06). There was no association found for CHEK2. We found that pathogenic mutations in BRCA1, BRCA2, RAD51C or PALB2 are responsible for 12.5% of unselected cases of ovarian cancer. We recommend that all women with ovarian cancer in Poland and first-degree female relatives should be tested for this panel of 18 mutations

<i>BARD1</i> is a Low/Moderate Breast Cancer Risk Gene: Evidence Based on an Association Study of the Central European p.Q564X Recurrent Mutation

In addition to several well-established breast cancer (BC) susceptibility genes, the contribution of other candidate genes to BC risk remains mostly undefined. BARD1 is a potentially predisposing BC gene, however, the rarity of its mutations and an insufficient family/study size have hampered corroboration and estimation of the associated cancer risks. To clarify the role of BARD1 mutations in BC predisposition, a comprehensive case-control association study of a recurring nonsense mutation c.1690C&gt;T (p.Q564X) was performed, comprising ~14,000 unselected BC patients and ~5900 controls from Polish and Belarusian populations. For comparisons, two BARD1 variants of unknown significance were also genotyped. We detected the highest number of BARD1 variants in BC cases in any individual BARD1-specific study, including 38 p.Q564X mutations. The p.Q564X was associated with a moderately increased risk of BC (OR = 2.30, p = 0.04). The estimated risk was even higher for triple-negative BC and bilateral BC. As expected, the two tested variants of unknown significance did not show significant associations with BC risk. Our study provides substantial evidence for the association of a deleterious BARD1 mutation with BC as a low/moderate risk allele. The p.Q564X was shown to be a Central European recurrent mutation with potential relevance for future genetic testing

Komentarze zespołu ekspertów — kardiologów i onkologów do wytycznych Europejskiego Towarzystwa Kardiologicznego 2022 dotyczących kardioonkologii

Dynamiczny rozwój różnych terapii onkologicznych skutkuje wzrostem odsetka wyleczeń, a nawet zaawansowany nowotwór można ustabilizować, co pozwala na poprawę przeżywalności przez miesiące lub lata, zwiększając tym samym populację pacjentów onkologicznych. W populacji chorych na nowotwory wśród różnych chorób współistniejących choroby układu sercowo-naczyniowego stanowią rosnący problem kliniczny o istotnym wpływie na przeżycie. Co więcej, lista potencjalnie kardiotoksycznych leków przeciwnowotworowych stale się powiększa, dlatego nadzór nad układem sercowo-naczyniowym jest konieczny przed (unikając opóźnień w leczeniu raka), w trakcie, a nawet po skutecznej terapii przeciwnowotworowej. Dlatego też, aby rozwiązać złożone problemy związane z rakiem i chorobami układu krążenia, kardioonkologia rozwinęła się jako nowa dziedzina medycyny. W niedawno opublikowanych wytycznych Europejskiego Towarzystwa Kardiologicznego 2022 dotyczących kardioonkologii przedstawiono zwięzły, ale bardzo jasny opis, który powinien ułatwić pracownikom służby zdrowia podejmowanie decyzji w ich praktyce. Zaprezentowane wytyczne zostały uzupełnione komentarzami zespołu polskich ekspertów — kardiologów i onkologów, co wydaje się wnosić dodatkowe praktyczne informacje