Evidence map›Paper›PMID 39985623›Full record

ArticleBreast cancer research and treatment2025

Genetic counseling referral rates and genetic testing outcomes in women with young breast cancer: a 20-year Canadian review.

Susan Randall Armel, Janet Malcolmson, Alexandra Volenik, Manjula Maganti, Nicholas Watkins, George S Charames, Jeanna McCuaig

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Article in Breast cancer research and treatment, 2025. 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. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Susan Randall ArmelBhalwani Familial Cancer Clinic, Princess Margaret Cancer Centre, Toronto, Canada. susan.randall@uhn.ca.ORCID http://orcid.org/0000-0001-5016-3148
Janet MalcolmsonBhalwani Familial Cancer Clinic, Princess Margaret Cancer Centre, Toronto, Canada.
Alexandra VolenikBhalwani Familial Cancer Clinic, Princess Margaret Cancer Centre, Toronto, Canada.
Manjula MagantiDepartment of Biostatistics, Princess Margaret Cancer Centre, Toronto, Canada.
Nicholas WatkinsDepartment of Molecular Genetics, University of Toronto, Toronto, Canada.
George S CharamesDepartment of Pathology and Laboratory Medicine, Sinai Health System, Toronto, Canada.ORCID http://orcid.org/0000-0002-5937-9276
Jeanna McCuaigDepartment of Molecular Genetics, University of Toronto, Toronto, Canada.ORCID http://orcid.org/0000-0002-0262-4226

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeDespite guidelines recommending genetic testing for all cases of very young breast cancer (VYBC), poor uptake has been reported. This study aimed to examine genetic testing referral rates and outcomes over a 20-year period within the Canadian context.

methodsA retrospective chart review of all incident VYBC cases (at or below 35 years of age) between January 1, 2000 and December 31, 2019 was conducted. Descriptive statistics were used to summarize demographic factors and logistic regression analyses were performed to identify the predictors associated with referral for genetic counseling and positive genetic test results.

results628 women were identified with VYBC. Most women presented with stage 2 (42%), hormone receptor-positive (HR +) and HER2-negative (54%) invasive ductal carcinoma (94%). Over the study period, referral rates increased from 44 to 84%. Of women initially tested for BRCA1/BRCA2, only 21% were referred for updated panel testing. Among those tested, 19% had a pathogenic variant, 21% of whom reported no family history of cancer. Predictors of referral included stage 0-2 disease while predictors of positive test results included a second breast cancer diagnosis and positive family history.

conclusionDespite guidelines based on age alone, barriers to referral persist. Results of this study suggest the need for new models of care that ensure equitable access to genetic testing for all women diagnosed with VYBC regardless of family history, ethnicity, or disease stage. As genetic testing criteria evolve, protocols must address these barriers to prevent missed opportunities for testing.

Indexed as

Breast NeoplasmsGenetic CounselingGenetic TestingReferral and ConsultationAdultCanadaFemaleGenetic Predisposition to DiseaseHumansRetrospective StudiesYoung AdultEarly onset breast cancerGenetic counseling uptakeGenetic testing resultPredictors of referralVery young breast cancer

Identifiers

PMID39985623

What OpenQuestion holds

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Registered trials

None linked

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.