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Landscape of somatic mutated genes and inherited susceptibility genes in gynecological cancer.
Watanabe, Takafumi; Soeda, Shu; Okoshi, Chihiro; Fukuda, Toma; Yasuda, Shun; Fujimori, Keiya.
Afiliación
  • Watanabe T; Department of Obstetrics and Gynecology, Fukushima Medical University, Fukushima, Japan.
  • Soeda S; Department of Obstetrics and Gynecology, Fukushima Medical University, Fukushima, Japan.
  • Okoshi C; Department of Obstetrics and Gynecology, Fukushima Medical University, Fukushima, Japan.
  • Fukuda T; Department of Obstetrics and Gynecology, Fukushima Medical University, Fukushima, Japan.
  • Yasuda S; Department of Obstetrics and Gynecology, Fukushima Medical University, Fukushima, Japan.
  • Fujimori K; Department of Obstetrics and Gynecology, Fukushima Medical University, Fukushima, Japan.
J Obstet Gynaecol Res ; 49(11): 2629-2643, 2023 Nov.
Article en En | MEDLINE | ID: mdl-37632362
Traditionally, gynecological cancers have been classified based on histology. Since remarkable advancements in next-generation sequencing technology have enabled the exploration of somatic mutations in various cancer types, comprehensive sequencing efforts have revealed the genomic landscapes of some common forms of human cancer. The genomic features of various gynecological malignancies have been reported by several studies of large-scale genomic cohorts, including The Cancer Genome Atlas. Although recent comprehensive genomic profiling tests, which can detect hundreds of genetic mutations at a time from cancer tissues or blood samples, have been increasingly used as diagnostic clinical biomarkers and in therapeutic management decisions, germline pathogenic variants associated with hereditary cancers can also be detected using this test. Gynecological cancers are closely related to genetic factors, with approximately 5% of endometrial cancer cases and 20% of ovarian cancer cases being caused by germline pathogenic variants. Hereditary breast and ovarian cancer syndrome and Lynch syndrome are the two major cancer susceptibility syndromes among gynecological cancers. In addition, several other hereditary syndromes have been reported to be associated with gynecological cancers. In this review, we highlight the genes for somatic mutation and germline pathogenic variants commonly seen in gynecological cancers. We first describe the relationship between clinicopathological attributes and somatic mutated genes. Subsequently, we discuss the characteristics and clinical management of inherited cancer syndromes resulting from pathogenic germline variants in gynecological malignancies.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias Colorrectales Hereditarias sin Poliposis / Neoplasias de los Genitales Femeninos Tipo de estudio: Prognostic_studies Límite: Female / Humans Idioma: En Revista: J Obstet Gynaecol Res Asunto de la revista: GINECOLOGIA / OBSTETRICIA Año: 2023 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Australia
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias Colorrectales Hereditarias sin Poliposis / Neoplasias de los Genitales Femeninos Tipo de estudio: Prognostic_studies Límite: Female / Humans Idioma: En Revista: J Obstet Gynaecol Res Asunto de la revista: GINECOLOGIA / OBSTETRICIA Año: 2023 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Australia