Hereditary Gynecologic Cancer Syndromes – A Narrative Review

Kostov, Stoyan; Watrowski, Rafał; Kornovski, Yavor; Dzhenkov, Deyan; Slavchev, Stanislav; Ivanova, Yonka; Yordanov, Angel

doi:10.2147/ott.s353054

Cited by 16 publications

(8 citation statements)

References 134 publications

(281 reference statements)

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“…11 Our research also noted an enhanced risk of second primary soft-tissue cancer and extranodal non-Hodgkin's lymphoma. While familial cancer syndromes, which are usually triggered by germline mutations in oncogenes and tumor suppressor genes, are generally seen as the cause of primary multiple malignancies, 19 it is difficult to clarify the excess risk of second primary tumors found in the BOT research through genetic predisposition. The mutation profiles in BOT were more dissimilar compared with ovarian cancer.…”

Section: Factors Associated With Spmmentioning

confidence: 99%

Do survivors of borderline ovarian tumors have susceptibility to secondary primary malignancies? A SEER population‐based study

Wang,

Du,

Kang

2024

Intl J Gynecology & Obste

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ObjectiveTo describe the risk of women who have survived borderline ovarian tumors (BOT) developing second primary malignancies (SPM).MethodsThis work employed the Surveillance, Epidemiology, and End Results (SEER) Program to conduct a retrospective study of patients diagnosed with BOT. The SEER stat software was used to calculate the standardized incidence ratio (SIR). Cases with pathologic diagnosis and for which information on prognostic factors were available were obtained and analyzed using the Fine and Gray model, with non‐SPM death as a competing event.ResultsThe risk of developing SPM among BOT survivors was not elevated compared with that expected in the general population (SIR 0.88, 95% confidence interval [CI] 0.80–0.96) between 1975 and 2017. Of 3661 patients with BOT diagnosed between 1977 and 2000, 477 patients (13.03%) experienced the development of SPM during the median follow up of 19.43 years and the cumulative incidence of SPM over a span of 25 years was 15.52%. Patients with mucinous BOT (P = 0.028), age older than 50 years (P < 0.001), or no lymph node dissection (P = 0.042), had a higher cumulative incidence of SPM in univariate analysis. In the multivariable competing risk analysis, performing lymphadenectomy (subdistribution hazard ratios [sdHR] 0.79, 95% CI 0.64–0.98), age (sdHR 1.03, 95% CI 1.02–1.03) could strongly predict the risk of SPM.ConclusionIn contrast to ovarian cancer, women with BOT were not more prone to develop SPM.

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Section: Factors Associated With Spmmentioning

confidence: 99%

Do survivors of borderline ovarian tumors have susceptibility to secondary primary malignancies? A SEER population‐based study

Wang,

Du,

Kang

2024

Intl J Gynecology & Obste

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“…Hereditary cancers carry unique significance as they tend to develop earlier and confer a heightened risk of aggressive, multifocal, and bilateral cancers [12]. About 5-10% of malignancies result from hereditary predisposition syndromes, highlighting their substantial impact [13,14]. These syndromes, often stemming from mutations in key genes involved in cell regulation and DNA repair, elevate cancer risk, as exemplified by CS and PTEN mutations [15].…”

Section: Pathophysiology Of the Phtsmentioning

confidence: 99%

Insights into Clinical Disorders in Cowden Syndrome: A Comprehensive Review

Pîrlog,

Pătrășcanu,

Militaru

et al. 2024

Medicina

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PTEN Hamartoma Tumour Syndrome (PHTS) encompasses diverse clinical phenotypes, including Cowden syndrome (CS), Bannayan–Riley–Ruvalcaba syndrome (BRRS), Proteus syndrome (PS), and Proteus-like syndrome. This autosomal dominant genetic predisposition with high penetrance arises from heterozygous germline variants in the PTEN tumour suppressor gene, leading to dysregulation of the PI3K/AKT/mTOR signalling pathway, which promotes the overgrowth of multiple and heterogenous tissue types. Clinical presentations of CS range from benign and malignant disorders, affecting nearly every system within the human body. CS is the most diagnosed syndrome among the PHTS group, notwithstanding its weak incidence (1:200,000), for which it is considered rare, and its precise incidence remains unknown among other important factors. The literature is notably inconsistent in reporting the frequencies and occurrences of these disorders, adding an element of bias and uncertainty when looking back at the available research. In this review, we aimed to highlight the significant disparities found in various studies concerning CS and to review the clinical manifestations encountered in CS patients. Furthermore, we intended to emphasize the great significance of early diagnosis as patients will benefit from a longer lifespan while being unceasingly advised and supported by a multidisciplinary team.

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“…LS is a hereditary condition with an increased risk of colorectal cancer development. Additionally, there is also a higher likelihood of endometrial and ovarian cancer development, respectively 30-71% and 4-24%, which increases in the case of survived women with LS [29]. LS is caused by mutations in DNA mismatch repair genes, which lead to microsatellite instability, where extra nucleotides are inserted in microsatellite repeats and affect the regulation of cell proliferation and cell cycle.…”

Section: The Investigation Of Brca-mutated Carriersmentioning

confidence: 99%

Fertility Preservation in BRCA1/2 Germline Mutation Carriers: An Overview

Silvestris,

Cormio,

Loizzi

et al. 2024

Life

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BRCA1 and BRCA2 mutations are responsible for a higher incidence of breast and ovarian cancer (from 55% up to 70% vs. 12% in the general population). If their functions have been widely investigated in the onset of these malignancies, still little is known about their role in fertility impairment. Cancer patients treated with antineoplastic drugs can be susceptible to their gonadotoxicity and, in women, some of them can induce apoptotic program in premature ovarian follicles, progressive depletion of ovarian reserve and, consequently, cancer treatment-related infertility (CTRI). BRCA variants seem to be associated with early infertility, thus accelerating treatment impairment of ovaries and making women face the concrete possibility of an early pregnancy. In this regard, fertility preservation (FP) procedures should be discussed in oncofertility counseling—from the first line of prevention with risk-reducing salpingo-oophorectomy (RRSO) to the new experimental ovarian stem cells (OSCs) model as a new way to obtain in vitro-differentiated oocytes, several techniques may represent a valid option to BRCA-mutated patients. In this review, we revisit knowledge about BRCA involvement in lower fertility, pregnancy feasibility, and the fertility preservation (FP) options available.

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Hereditary Gynecologic Cancer Syndromes – A Narrative Review

Cited by 16 publications

References 134 publications

Do survivors of borderline ovarian tumors have susceptibility to secondary primary malignancies? A SEER population‐based study

Do survivors of borderline ovarian tumors have susceptibility to secondary primary malignancies? A SEER population‐based study

Insights into Clinical Disorders in Cowden Syndrome: A Comprehensive Review

Fertility Preservation in BRCA1/2 Germline Mutation Carriers: An Overview

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