bims-ovdlit 2023-02-12 papers

Issue of 2023‒02‒12
four papers selected by
Lara Paracchini
Humanitas Research

Cancers (Basel). 2023 Jan 30. pii: 868. [Epub ahead of print]15(3):

Uterine Cavity Lavage Mutation Analysis in Lithuanian Ovarian Cancer Patients.

Diana Žilovič, Ieva Vaicekauskaitė, Rūta Čiurlienė, Rasa Sabaliauskaitė, Sonata Jarmalaitė.

BACKGROUND: Type II ovarian cancer (OC) is generally diagnosed at an advanced stage, translating into a poor survival rate. Current screening methods for OC have failed to demonstrate a reduction in mortality. The uterine lavage technique has been used to detect tumor-specific TP53 mutations from cells presumably shed from high-grade serous ovarian cancer (HGSOC). We aimed to pilot whether the detection of TP53 mutation in uterine cavity lavage can be used as a diagnostic method for HGSOC using an expanded gene panel.METHODS: In this study 90, uterine lavage and 46 paired biopsy samples were analyzed using next-generation sequencing (NGS) targeting TP53 as well as five additional OC-related genes: BRCA1, BRCA2, PI3KCA, PTEN, and KRAS.
RESULTS: Uterine lavage was successfully applied to all patients, and 56 mutations were detected overall. TP53 mutations were detected in 27% (10/37) of cases of type HGSOC; BRCA1 and BRCA2 mutations were also frequent in this group (46%; 17/37). Overall concordance between tissue and liquid biopsy samples was 65.2%.
CONCLUSION: Uterine lavage TP53 mutations in combination with other biomarkers could be a useful tool for the detection of lowly invasive HGSOC.

Keywords: TP53; liquid biopsy; ovarian cancer; uterine lavage

DOI: https://doi.org/10.3390/cancers15030868

Cancers (Basel). 2023 Jan 24. pii: 711. [Epub ahead of print]15(3):

Long-Term Non-Cancer Risks in People with BRCA Mutations following Risk-Reducing Bilateral Salpingo-Oophorectomy and the Role of Hormone Replacement Therapy: A Review.

Amanda S Nitschke, Helena Abreu do Valle, Lesa Dawson, Janice S Kwon, Gillian E Hanley.

Risk-reducing bilateral salpingo-oophorectomy (RRBSO) is the gold standard preventative option for BRCA mutation carriers at high risk for ovarian and breast cancer. However, when performed at the recommended ages of 35-45 years, RRBSO induces immediate premature surgical menopause, along with the accompanying adverse psychosocial, cardiovascular, bone, and cognitive health consequences. While these health consequences have been thoroughly studied in the general population, little is known about the long-term health outcomes in the BRCA population. Hormone replacement therapy (HRT) until the average age of natural menopause can help mitigate these health risks, yet the initiation of HRT is a complex decision among BRCA carriers due to concern of increasing the already high risk of breast cancer in these people. This review summarizes the current research on long-term non-cancer risks in BRCA carriers following RRBSO-induced premature surgical menopause, and highlights the existing evidence in support of HRT use in this population.

Keywords: BRCA; hereditary breast and ovarian cancer syndrome; hormone replacement therapy; risk-reducing salpingo-oophorectomy

DOI: https://doi.org/10.3390/cancers15030711

Post Reprod Health. 2023 Feb 09. 20533691231156640

Counselling of path_BRCA carriers who are considering risk-reducing oophorectomy.

Kristyn Manley, Neil Ryan, Abigail Jenner, Claire Newton, Timothy Hillard.

path_BRCA 1/2 increases a woman's lifetime risk of breast and ovarian cancer. Interventions can be offered which manage cancer risk; annual breast screening from age 30, chemoprevention and, once a woman's family is complete, risk-reducing surgery. The latter is the most effective method of reducing cancer in path_BRCA carriers; salpingo-oophorectomy reduces breast and ovarian cancer, respectively, by up to 50% and 95%. Factors affecting a woman's decision to undergo risk-reducing surgery are complex; dominant factors include risks of surgery, effect on cancer outcomes and menopausal sequelae. Specific information relating to hormone replacement and non-hormonal alternatives are an important consideration for women but, are often overlooked. Informative counselling is required to enable satisfaction with the chosen intervention whilst improving survival outcomes. This review paper outlines the current data pertaining to these decision-making factors and provides a proforma to enable effective counselling.

Keywords: BRCA; hormone replacement therapy; preoperative counselling; risk-reducing surgery; surgical menopause

DOI: https://doi.org/10.1177/20533691231156640

Clin Cancer Res. 2023 Feb 09. pii: CCR-22-3087. [Epub ahead of print]

Liquid biopsies for cancer genotyping: Coming of age?

Anders Jacobsen Skanderup, Su Fen Ang, Daniel S W Tan.

Precision oncology is predicated on optimal molecular profiling that is "fit for purpose" to identify therapeutic vulnerabilities. Liquid biopsies may compensate for inadequate genotyping, but remain less sensitive and specific compared to tissue biopsies. The liquid biopsy toolbox is poised to expand through novel assays and insights from longitudinal profiling.

DOI: https://doi.org/10.1158/1078-0432.CCR-22-3087