Evidence map›Paper›PMID 42165229›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2026

The impact of breast cancer polygenic risk score disclosure on decisional conflict around risk-reducing mastectomy in women with pathogenic BRCA1/2 variants.

Giulia Ongaro, Caroline Salafia, Rania Sheikh, Elizabeth Schofield, Dana Farengo Clark, Jessica Ebrahimzadeh, Anu Chittenden, Jill E Stopfer, Jamie Brower, Heather Symecko and 11 more

Abstract read
In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

21 authors.

Giulia OngaroMemorial Sloan Kettering Cancer Center, New York, NY.
Caroline SalafiaMemorial Sloan Kettering Cancer Center, New York, NY.
Rania SheikhMemorial Sloan Kettering Cancer Center, New York, NY.
Elizabeth SchofieldMemorial Sloan Kettering Cancer Center, New York, NY.
Dana Farengo ClarkUniversity of Pennsylvania, Philadelphia, PA.
Jessica EbrahimzadehUniversity of Pennsylvania, Philadelphia, PA.
Anu ChittendenDana-Farber Cancer Institute, Boston, MA.
Jill E StopferDana-Farber Cancer Institute, Boston, MA.
Jamie BrowerUniversity of Pennsylvania, Philadelphia, PA.
Heather SymeckoUniversity of Pennsylvania, Philadelphia, PA.
Hannah OvadiaMemorial Sloan Kettering Cancer Center, New York, NY.
Alexander HusbandDana-Farber Cancer Institute, Boston, MA.
Hadley BarrDana-Farber Cancer Institute, Boston, MA.
Semanti MukherjeeMemorial Sloan Kettering Cancer Center, New York, NY.
Jennifer L HayMemorial Sloan Kettering Cancer Center, New York, NY.
Zsofia K StadlerMemorial Sloan Kettering Cancer Center, New York, NY.
Kenneth OffitMemorial Sloan Kettering Cancer Center, New York, NY.
Judy E GarberDana-Farber Cancer Institute, Boston, MA.
Susan M DomchekUniversity of Pennsylvania, Philadelphia, PA.
Mark E RobsonMemorial Sloan Kettering Cancer Center, New York, NY.
Jada G HamiltonMemorial Sloan Kettering Cancer Center, New York, NY. Electronic address: hamiltoj@mskcc.org.

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI SELWYN M VICKERS · 1985 to 2026
$347.4M
Psychosocial Palliative & Community Research in CancerT32CA009461 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI JENNIFER L HAY, Jamie S. Ostroff · 1985 to 2026
$10.1M
A hybrid effectiveness-implementation trial to integrate precision skin cancer risk feedback in federally qualified health centersR01CA291735 · NCI · H. LEE MOFFITT CANCER CTR & RES INST · PI JENNIFER L HAY, PETER A KANETSKY · 2024 to 2026
$3.4M
Optimization of a personalized skin cancer risk intervention for at-risk young adultsR01CA266302 · NCI · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI JENNIFER L HAY, Yelena Ping Wu · 2023 to 2026
$2.5M
Responses to Genetic Risk Modifier Testing Among Women with BRCA1/2 MutationsR21CA230879 · NCI · SLOAN-KETTERING INST CAN RESEARCH · PI HAMILTON, JADA GABRIELLE · 2018 to 2019
$414k
NCI NIH HHS P30 CA008748NCI NIH HHS R01 CA266302NCI NIH HHS R01 CA291735NCI NIH HHS R21 CA230879NCI NIH HHS T32 CA009461
6 · The paper itself

Abstract

purposeWomen with BRCA1/2 pathogenic variants (PVs) face high breast cancer risks and complex preventive decisions, including whether to undergo risk-reducing mastectomy, which can generate decisional conflict. Polygenic risk scores (PRSs) offer individualized risk estimates that may support informed preventive decisions. We examined whether PRS disclosure reduces decisional conflict about risk-reducing mastectomy in women with BRCA1/2 PVs and whether PRS magnitude interacts with individual characteristics.

methodsUnaffected women with BRCA1/2 PVs (N = 354) were assessed before PRS disclosure (T0), 1 week (T1), and 6 months post-disclosure (T2). PRSs were translated into 10-year and lifetime absolute breast cancer risk estimates. Mixed-effects models were used to test changes in decisional conflict and generalized regression analyses to test PRS effects and interactions with individual characteristics.

resultsDecisional conflict decreased significantly after PRS disclosure. A higher 10-year risk was associated with greater decisional conflict immediately after disclosure. Lifetime risk alone did not predict conflict. Tolerance for ambiguity moderated the effect of lifetime risk at T1: women with lower or medium tolerance experienced higher conflict with high PRSs and lower conflict with low PRSs. Numeracy, age, and family cancer history did not moderate PRS effects.

conclusionDecisional conflict decreased post-PRS disclosure, with short-term responses varying by tolerance for ambiguity, highlighting the importance of tailoring risk communication to patients' psychological characteristics.

Indexed as

BRCA1 ProteinBRCA2 ProteinBreast NeoplasmsAdultDecision MakingFemaleGenetic Predisposition to DiseaseGenetic Risk ScoreGenetic TestingHumansMastectomyMiddle AgedProphylactic MastectomyBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, humanBRCA1/2 pathogenic variantsDecisional conflictPolygenic risk scorePreventive decision-makingRisk-reducing mastectomy

Identifiers

PMID42165229
PMCPMC13322037

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Registered trials

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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.