bims-ovdlit Biomed News
on Ovarian cancer: early diagnosis, liquid biopsy and therapy
Issue of 2021–05–02
two papers selected by
Lara Paracchini, Humanitas Research
  1. Mechanisms of High-Grade Serous Carcinogenesis in the Fallopian Tube and Ovary: Current Hypotheses, Etiologic Factors, and Molecular Alterations.
  2. Family planning in carriers of BRCA1 and BRCA2 pathogenic variants.
  1. Int J Mol Sci. 2021 Apr 23. pii: 4409. [Epub ahead of print]22(9):
    Mechanisms of High-Grade Serous Carcinogenesis in the Fallopian Tube and Ovary: Current Hypotheses, Etiologic Factors, and Molecular Alterations.
    Isao Otsuka.
      Ovarian high-grade serous carcinomas (HGSCs) are a heterogeneous group of diseases. They include fallopian-tube-epithelium (FTE)-derived and ovarian-surface-epithelium (OSE)-derived tumors. The risk/protective factors suggest that the etiology of HGSCs is multifactorial. Inflammation caused by ovulation and retrograde bleeding may play a major role. HGSCs are among the most genetically altered cancers, and TP53 mutations are ubiquitous. Key driving events other than TP53 mutations include homologous recombination (HR) deficiency, such as BRCA 1/2 dysfunction, and activation of the CCNE1 pathway. HR deficiency and the CCNE1 amplification appear to be mutually exclusive. Intratumor heterogeneity resulting from genomic instability can be observed at the early stage of tumorigenesis. In this review, I discuss current carcinogenic hypotheses, sites of origin, etiologic factors, and molecular alterations of HGSCs.
    Keywords:  carcinogenesis; high-grade serous carcinoma; molecular alterations; ovarian cancer
    DOI:  https://doi.org/10.3390/ijms22094409
  2. J Genet Couns. 2021 Apr 27.
    Family planning in carriers of BRCA1 and BRCA2 pathogenic variants.
    Jessica M Haddad, Katina Robison, Lindsey Beffa, Jessica Laprise, Jennifer ScaliaWilbur, Christina A Raker, Melissa A Clark, Erin Hofstatter, Disha Dalela, Amy Brown, Leslie Bradford, Maris Toland, Ashley Stuckey.
      BRCA1 and BRCA2 pathogenic variant carriers have a high lifetime risk of developing breast and ovarian malignancies. Given the risks and significant ramifications of undergoing risk-reducing surgeries, many pathogenic variant carriers unaffected by cancer (previvors) struggle with family planning and reproductive decision making. The objective of this study was to determine the attitudes and practices of BRCA1 and BRCA2 pathogenic variant carriers with respect to family planning decision making. A cross-sectional survey was conducted of BRCA1 and BRCA2 previvors at four Northeastern medical centers. The survey was administered electronically via email using REDCap. The survey included demographic information as well as questions about genetic testing, prophylactic surgeries, family planning, and partnering. Data were analyzed with Fisher's exact tests and t tests. The survey was completed by 139 of 422 BRCA1 and BRCA2 pathogenic variant carriers (response rate 33%). Thirteen were excluded from analysis due to self-reported cancer history. Of the remaining 126, 21 (16.7%) were male and 105 (83.3%) were female. Female participants <35 years old at the time of genetic testing were significantly more likely than those 35 or greater to report feeling urgency to have a family after finding out about their BRCA1 and BRCA2 pathogenic variant (p < 0.0001). Younger women also reported their genetic status had a stronger impact on their romantic relationships (p = 0.029). Men were significantly more likely to report that they felt no urgency to have a family compared to women (p < 0.0001). Our study reflects the complex decision making for previvors and the intricacies of family planning in this population. Providers can use this knowledge as a guide to counsel patients about reproductive options.
    Keywords:  assisted reproductive technology; attitudes; communication; decision making; family; preimplantation genetic diagnosis
    DOI:  https://doi.org/10.1002/jgc4.1423
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