Biomedicines, 2024-03, Vol.12 (4), p.714
2024
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Details
- Autor(en) / Beteiligte
- Titel
- Role of Breast Cancer Risk Estimation Models to Identify Women Eligible for Genetic Testing and Risk-Reducing Surgery
- Ist Teil von
- Biomedicines, 2024-03, Vol.12 (4), p.714
- Ort / Verlag
- Switzerland: MDPI AG
- Erscheinungsjahr
- 2024
- Quelle
- Free E-Journal (出版社公開部分のみ）
- Beschreibungen/Notizen
- Hereditary breast and ovarian cancer (HBOC) syndrome is responsible for approximately 10% of breast cancers (BCs). The HBOC gene panel includes both high-risk genes, i.e., a four times higher risk of BC ( , , , , , and ), and moderate-risk genes, i.e., a two to four times higher risk of BC ( , , , and ). Pathogenic germline variants (PGVs) in HBOC genes confer an absolute risk of BC that changes according to the gene considered. We illustrate and compare different BC risk estimation models, also describing their limitations. These models allow us to identify women eligible for genetic testing and possibly to offer surgical strategies for primary prevention, i.e., risk-reducing mastectomies and salpingo-oophorectomies.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 2227-9059eISSN: 2227-9059DOI: 10.3390/biomedicines12040714Titel-ID: cdi_doaj_primary_oai_doaj_org_article_cff839c0356443fbb4d8f55860835220
- Format
- –
- Schlagworte
- BRCA1 protein, BRCA2 protein, Breast cancer, breast cancer risk estimation models, Cancer, E-cadherin, Family medical history, Genetic screening, Health aspects, hereditary breast and ovarian cancer syndrome, Ovarian cancer, p53 Protein, pathogenic germline variants, Prevention, primary prevention, PTEN protein, Risk factors, risk-reducing mastectomy, risk-reducing salpingo-ovariectomy, Surgery, Tumor proteins, Womens health