Hereditary Gynecologic Cancer Syndromes - A Narrative Review.
diagnosis
hereditary gynecologic cancer syndromes
pathogenesis
pathology
screening
Journal
OncoTargets and therapy
ISSN: 1178-6930
Titre abrégé: Onco Targets Ther
Pays: New Zealand
ID NLM: 101514322
Informations de publication
Date de publication:
2022
2022
Historique:
received:
17
12
2021
accepted:
18
03
2022
entrez:
15
4
2022
pubmed:
16
4
2022
medline:
16
4
2022
Statut:
epublish
Résumé
Hereditary cancer syndromes are defined as syndromes, where the genetics of cancer are the result of low penetrant polymorphisms or of a single gene disorder inherited in a mendelian fashion. During the last decade, compelling evidence has accumulated that approximately 5-10% of all cancers could be attributed to hereditary cancer syndromes. A tremendous progress has been made over the last decade in the evaluation and management of these syndromes. However, hereditary syndromes associated with gynecologic malignancies still present significant challenge for oncogynecologists. Oncogynecologists tend to pay more attention to staging, histological type and treatment options of gynecological cancers than thinking of inherited cancers and taking a detailed family history. Moreover, physicians should also be familiar with screening strategies in patients with inherited gynecological cancers. Lynch syndrome and hereditary breast-ovarian cancer syndrome are the most common and widely discussed syndromes in medical literature. The aim of the present review article is to delineate and emphasize the majority of hereditary gynecological cancer syndromes, even these, which are rarely reported in oncogynecology. The following inherited cancers are briefly discussed: Lynch syndrome; "site-specific" ovarian cancer and hereditary breast-ovarian cancer syndrome; Cowden syndrome; Li-Fraumeni syndrome; Peutz-Jeghers syndrome; ataxia-telangiectasia; DICER1- syndrome; gonadal dysgenesis; tuberous sclerosis; multiple endocrine neoplasia type I, II; hereditary small cell carcinoma of the ovary, hypercalcemic type and hereditary undifferentiated uterine sarcoma; hereditary diffuse gastric cancer and MUTYH-associated polyposis. Epidemiology, pathogenesis, diagnosis, pathology and screening of these syndromes are discussed. General treatment recommendations are beyond the scope of this review.
Identifiants
pubmed: 35422633
doi: 10.2147/OTT.S353054
pii: 353054
pmc: PMC9005127
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
381-405Informations de copyright
© 2022 Kostov et al.
Déclaration de conflit d'intérêts
The authors declare no conflicts of interest for this work.
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