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PMID: 42617415 已发表 · aheadofprint 英语

From genetic testing to prevention: an integrated clinical pathway for hereditary risk assessment in tubo-ovarian cancer.

Viveros-Carreño D, Mora-Soto N, Beshar I, Agustí N, Martínez-Cruz L, Fernandes A, Buda A, Rauh-Hain A, Pareja R

摘要

Hereditary tubo-ovarian cancer risk assessment has evolved from a BRCA1/2-centered consultation to an integrated prevention pathway that begins at diagnosis and extends to unaffected relatives. Germline testing is now justified for patients with epithelial tubo-ovarian cancer because actionable pathogenic variants are common enough that family-history-only referral misses many carriers. The central clinical challenge is no longer whether testing matters, but whether testing is interpreted and implemented in a way that prevents cancer. BRCA1 and BRCA2 remain the highest-impact tubo-ovarian cancer predisposition genes, but Lynch syndrome genes, BRIP1, RAD51C, RAD51D, PALB2, and selected rare histology-directed syndromes require distinct counseling. Gene-specific penetrance, age-specific risk, family history, comorbidities, reproductive plans, and menopause consequences should shape the timing of risk-reducing surgery. Tumor testing improves therapeutic selection and can identify possible hereditary variants, but tumor-only testing does not replace germline testing when hereditary evaluation is indicated. Cascade testing should be measured and resourced as part of tubo-ovarian cancer care rather than treated as a passive family responsibility. Mainstream testing, traceback programs, and navigation-supported cascade testing offer pragmatic implementation models, but access gaps remain. For gynecologic oncology clinicians, modern hereditary risk assessment should be understood as a multi-disciplinary prevention intervention: testing is the entry point, not the endpoint. This narrative review synthesizes gene-specific counseling, tumor-germline interpretation, and implementation strategies into a clinically oriented pathway from diagnosis to prevention for patients and relatives.

关键词
BRCA1 BRCA2 Cascade Testing Genetic Testing Hereditary Cancer Lynch Syndrome Ovarian Cancer
文献信息
期刊
International journal of gynecological cancer : official journal of the International Gynecological Cancer Society
期刊简称
Int J Gynecol Cancer
ISSN
1525-1438
发表日期
2026-08-03
语言
英语
国家/地区
United States
NLM ID
9111626
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