Evidence map›Paper›PMID 42114202›Full record

ArticleGynecologic oncology2026

Real-world genetic testing data of ovarian cancer patients: Informing counseling and risk reduction in patients over age seventy.

Eliya Shachar, Gilat Rotkop, Roni Haas, Rachel Frankenthal, Daniella Kamara, Maral Demirjian, Lorna Kwan, Shelly Cummings, Breanna Roscow, Ritu Salani and 3 more

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Article in Gynecologic oncology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

13 authors.

Eliya ShacharDepartment of Obstetrics and Gynecology, University of California Los Angeles, USA; Grey Faculty of Medicine & Health Sciences, Tel Aviv University, Israel.
Gilat RotkopGrey Faculty of Medicine & Health Sciences, Tel Aviv University, Israel; Bar Ilan University, Ramat Gan, Israel.
Roni HaasDepartment of Medicine, Division Hematology Oncology, University of California, Los Angeles, USA.
Rachel FrankenthalDepartment of Obstetrics and Gynecology, University of California Los Angeles, USA.
Daniella KamaraDepartment of Obstetrics and Gynecology, University of California Los Angeles, USA.
Maral DemirjianDepartment of Urology, University of California Los Angeles, USA.
Lorna KwanDepartment of Urology, University of California Los Angeles, USA.
Shelly CummingsMyriad Genetics, USA.
Breanna RoscowMyriad Genetics, USA.
Ritu SalaniDepartment of Obstetrics and Gynecology, University of California Los Angeles, USA.
Paul T SpellmanDepartment of Medicine, Division Hematology Oncology, University of California, Los Angeles, USA.
Beth KarlanDepartment of Obstetrics and Gynecology, University of California Los Angeles, USA.
Dana M ChaseDepartment of Obstetrics and Gynecology, University of California Los Angeles, USA. Electronic address: DMChase@mednet.ucla.edu.

Funding

Patient-Centered Outcomes Research Training in Urologic and Gynecologic Cancers (PCORT UroGynCan)T32CA251072 · NCI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI Beth Y. Karlan, MARK S. LITWIN · 2020 to 2026
$2.1M
NCI NIH HHS T32 CA251072
6 · The paper itself

Abstract

backgroundOlder women are underrepresented in hereditary cancer guidelines, and the prevalence of pathogenic or likely pathogenic (P/LP) germline variants in ovarian cancer (OC) patients aged ≥70 remains poorly characterized. Current recommendations for risk-reducing interventions and surveillance rely heavily on variant and family history (FH), yet their applicability in older populations is uncertain. We evaluated age-stratified prevalence of P/LP variants at OC diagnosis to identify at-risk older patients and inform more inclusive genetic counseling strategies.

methodsWe conducted a retrospective analysis of 113,236 OC patients undergoing germline testing through the Myriad Collaborative Research Registry (1996-2024). Variant prevalence, ancestry, FH, and testing patterns were evaluated across age groups, with focus on patients ≥70.

resultsOverall, 14,513 patients (12.8%) harbored a P/LP variant, including 13,049 (11.5%) in established OC susceptibility genes. Among patients ≥70 (20%, n = 22,593), 6.6% carried variants in established genes compared with 12.8% in those <70 (p < 0.01). BRCA1/2 and Lynch syndrome variants declined with age; BRCA2 exceeded BRCA1 in patients ≥70. Moderate-penetrance variants (BRIP1,PALB2) were relatively enriched, while ATM and RAD51C/D remained stable. PMS2 were more common than previously reported and declined with age (p = 0.03). Patients ≥70 were 1.5-fold less likely to report a cancer FH.

conclusionDespite lower prevalence, a clinically meaningful proportion of patients ≥70 harbor actionable P/LP variants, often without FH that would prompt risk-reducing interventions. These findings suggest reduced sensitivity of FH-based risk assessment in older individuals, supporting age-inclusive genetic counseling and testing strategies extending beyond FH-based criteria.

Indexed as

Genetic CounselingGenetic TestingOvarian NeoplasmsAdultAgedAged, 80 and overAge FactorsFemaleGenetic Predisposition to DiseaseGerm-Line MutationHumansMiddle AgedRetrospective StudiesRisk Reduction BehaviorBRCAElderlyHereditary cancerLynch syndromeOvarian cancerPreventionRisk reduction

Identifiers

PMID42114202
PMCPMC13322044

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.