Publications by authors named "Gronwald Jacek"

Article Synopsis
  • The study investigates the relationship between hormonal contraceptive use and breast cancer risk in both unaffected women and mutation carriers.
  • Out of the participants, it was found that hormonal contraceptive use was linked to a higher breast cancer risk in mutation carriers, particularly with longer duration of use.
  • The findings suggest that decisions regarding hormonal contraceptive use for women with genetic mutations should consider individual risk factors and benefits.
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Objective: To investigate whether Molybdenum blood level is a marker of cancer risk on BRCA1 carriers.

Methods: A prospective cohort study was conducted among 989 initially unaffected women with a BRCA1 mutation. Blood samples were collected to measure molybdenum levels, and participants were followed for an average of 7.

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Objective: Whether or not women who harbor a germline pathogenic variant ('mutation') in the BRCA1 or BRCA2 genes are at elevated risk of developing endometrial cancer is yet to be determined.

Methods: We conducted a prospective analysis of 4959 BRCA mutation carriers with no prior history of cancer (except for breast or melanoma) and an intact uterus.

Results: After a mean of 6.

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Prostate cancer is the most common cancer diagnosed in men and the second leading cause of death in male cancer patients. The WHO suggests that cobalt is involved in the carcinogenesis of prostate cancer. There are, however, no studies associating cobalt levels and prostate cancer patient survival.

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Article Synopsis
  • * Analysis of data from over 55,000 breast cancer patients showed that co-observation of variants in BRCA1, BRCA2, and PALB2 with other breast cancer genes occurred less frequently than expected, suggesting a potential correlation with pathogenicity.
  • * The findings indicate that identifying a variant of uncertain significance alongside a known pathogenic variant supports evidence against the variant's pathogenicity, which could improve variant classification in clinical settings and for other genetic conditions.
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Pathogenic mutations in BRCA1 (BReast CAncer gene 1) confer high risks of both breast (up to 70%) and ovarian (up to 40%) cancers. Zinc (Zn) and copper (Cu) are essential for various physiological functions, including antioxidant reactions. Their balance, reflected in the Zn/Cu ratio, plays a crucial role in maintaining redox homeostasis, which is vital for cancer prevention.

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Background: To estimate the incidence of primary peritoneal cancer after preventive bilateral oophorectomy in women with a BRCA1 or BRCA2 mutation.

Methods: A total of 6310 women with a BRCA1 or BRCA2 mutation who underwent a preventive bilateral oophorectomy were followed for a mean of 7.8 years from oophorectomy.

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Breast cancer and ovarian cancer pose a significant risk for BRCA1 carriers, with limited risk-reduction strategies. While improved screening helps in the early detection of breast cancer, preventive measures remain elusive. Emerging evidence suggests a potential link between iodine levels and modulation of cancer risk, but comprehensive studies are scarce.

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Purpose: The purpose of this study was to evaluate RB1 expression and survival across ovarian carcinoma histotypes and how co-occurrence of BRCA1 or BRCA2 (BRCA) alterations and RB1 loss influences survival in tubo-ovarian high-grade serous carcinoma (HGSC).

Experimental Design: RB1 protein expression was classified by immunohistochemistry in ovarian carcinomas of 7,436 patients from the Ovarian Tumor Tissue Analysis consortium. We examined RB1 expression and germline BRCA status in a subset of 1,134 HGSC, and related genotype to overall survival (OS), tumor-infiltrating CD8+ lymphocytes, and transcriptomic subtypes.

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  • A study measured selenium and arsenic levels in blood and serum from 336 psoriatic patients and 336 healthy controls to explore links with psoriasis severity.
  • Results showed significantly lower selenium levels in patients, particularly in those with severe cases, while arsenic levels did not differ notably between the two groups.
  • The findings suggest that low selenium levels are associated with higher psoriasis risk, indicating a need for further research on selenium supplementation as a potential treatment strategy.
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BRCA1 mutations predispose women to breast and ovarian cancer. The anticancer effect of zinc is typically linked to its antioxidant abilities and protecting cells against oxidative stress. Zinc regulates key processes in cancer development, including DNA repair, gene expression, and apoptosis.

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  • - BRCA1 mutations significantly raise the chances of developing breast and ovarian cancer, and while environmental factors can also play a role, the specific impact of lead exposure on BRCA1 carriers hasn’t been studied until now.
  • - A study involving 989 BRCA1 mutation carriers in Poland found that elevated blood lead levels (above 13.6 μg/L) are linked to a higher risk of ovarian cancer, with HR values indicating more than triple the risk in univariable analysis.
  • - The research suggests that BRCA1 carriers with high lead exposure may benefit from preventive measures like salpingo-oophorectomy (removal of ovaries and fallopian tubes); however, more studies are needed to confirm this
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Cadmium (Cd) is a known carcinogen, but its impact on cancer risk at lower concentrations is poorly understood. Previous studies on Cd and cancer risk in men show inconsistent results, prompting further investigation. A prospective cohort study involving 2956 men was conducted.

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To identify credible causal risk variants (CCVs) associated with different histotypes of epithelial ovarian cancer (EOC), we performed genome-wide association analysis for 470,825 genotyped and 10,163,797 imputed SNPs in 25,981 EOC cases and 105,724 controls of European origin. We identified five histotype-specific EOC risk regions (p value <5 × 10) and confirmed previously reported associations for 27 risk regions. Conditional analyses identified an additional 11 signals independent of the primary signal at six risk regions (p value <10).

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There is emerging interest in the relationship between several serum micronutrients and the prognosis of patients with breast cancer. The relationship between serum zinc and copper levels and breast cancer prognosis is unclear. In our study, we included 583 patients with breast cancer diagnosed between 2008 and 2015 in the region of Szczecin, Poland.

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Background: Nineteen genomic regions have been associated with high-grade serous ovarian cancer (HGSOC). We used data from the Ovarian Cancer Association Consortium (OCAC), Consortium of Investigators of Modifiers of (CIMBA), UK Biobank (UKBB), and FinnGen to identify novel HGSOC susceptibility loci and develop polygenic scores (PGS).

Methods: We analyzed >22 million variants for 398,238 women.

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Importance: Preventive bilateral salpingo-oophorectomy is offered to women at high risk of ovarian cancer who carry a pathogenic variant in BRCA1 or BRCA2; however, the association of oophorectomy with all-cause mortality has not been clearly defined.

Objective: To evaluate the association between bilateral oophorectomy and all-cause mortality among women with a BRCA1 or BRCA2 sequence variation.

Design, Setting, And Participants: In this international, longitudinal cohort study of women with BRCA sequence variations, information on bilateral oophorectomy was obtained via biennial questionnaire.

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Importance: Magnetic resonance imaging (MRI) surveillance is offered to women with a pathogenic variant in the BRCA1 or BRCA2 gene who face a high lifetime risk of breast cancer. Surveillance with MRI is effective in downstaging breast cancers, but the association of MRI surveillance with mortality risk has not been well defined.

Objective: To compare breast cancer mortality rates in women with a BRCA1 or BRCA2 sequence variation who entered an MRI surveillance program with those who did not.

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The most prevalent type of cancer among males is prostate cancer. Survival is considered quite good, but it can be further improved when risk factors are optimized. One of these factors is micronutrients, including Se and Zn.

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Background: Micronutrients are important components for the homeostasis of the human body. The studies available in the literature of the subject on their impact on the risk of population diseases, including malignant neoplasms, are ambiguous. In this paper, the relationship between Cu and Zn serum levels and the occurrence of endometrial cancer have been analyzed.

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Background: Risk-reducing mastectomy (RRM) is offered to women with a BRCA1 or BRCA2 pathogenic variant, however, there are limited data on the impact on breast cancer mortality.

Methods: Participants were identified from a registry of women with BRCA1/2 pathogenic variants. We used a pseudo-randomised trial design and matched one woman with a RRM to one woman without a RRM on year of birth, gene, and country.

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Article Synopsis
  • Researchers studied a common genetic change that happens in a type of ovarian cancer called high-grade serous carcinoma (HGSC), looking at how it affects patient survival.
  • They found that losing the RB1 protein was linked to longer survival in patients with HGSC, but it was the opposite for a different type of ovarian cancer called endometrioid cancer.
  • Patients with both RB1 loss and certain inherited genetic changes had much better survival rates compared to those with just one of these problems or none at all.
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The gene belongs to a cluster of DNA-editing enzymes on chromosome 22 and encodes an activation-induced cytidine deaminase. A large deletion of was associated with increased breast cancer risk, but the evidence is inconclusive. To investigate whether or not is a breast cancer susceptibility gene, we sequenced this gene in 617 Polish patients with hereditary breast cancer.

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Purpose: Chemoprevention with a selective estrogen receptor modulator (tamoxifen or raloxifene) is a non-surgical option offered to high-risk women to reduce the risk of breast cancer. The evidence for tamoxifen benefit is based on trials conducted among predominantly postmenopausal women from the general population and on studies of contralateral breast cancer in women with a pathogenic variant (mutation hereafter) in BRCA1 or BRCA2. Tamoxifen has not been assessed as a primary prevention agent in women with an inherited BRCA mutation.

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Article Synopsis
  • BRCA1 and BRCA2 mutations are linked to breast and ovarian cancer, with notable percentages affected in Poland (4% for breast cancer and 10% for ovarian cancer).
  • The predominant mutations are three specific founder mutations, which can be screened easily and affordably for the Polish adult population.
  • In Pomerania, nearly 500,000 tests have been conducted, thanks to collaboration with family doctors and the Pomeranian Medical University, with ongoing efforts to improve genetic testing access at the local Cancer Family Clinic.
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