Evidence map›Paper›PMID 41776346›Full record

ArticleEuropean journal of human genetics : EJHG2026

"Where do I go from here?" Navigating a lifelong road without a map: the care experiences of hereditary cancer patients.

Carly Butkowsky, June C Carroll, Melyssa Aronson, Jordan Sam, Emma Reble, Marc Clausen, Ridhi Gopalakrishnan, Brooklyn Sparkes, Sepideh Rajeziesfahani, Vernie Aguda and 17 more

Abstract read
In one paragraph

Article in European journal of human genetics : EJHG, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Beyond the sequence.European journal of human genetics : EJHG · 2026
    Article
  2. Coding or non-coding? The question behind sequencing.European journal of human genetics : EJHG · 2026
    Article
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

27 authors.

Carly ButkowskySt. Michael's Hospital, Toronto, ON, Canada.ORCID http://orcid.org/0000-0001-8049-022X
June C CarrollUniversity of Toronto, Toronto, ON, Canada.
Melyssa AronsonUniversity of Toronto, Toronto, ON, Canada.
Jordan SamSt. Michael's Hospital, Toronto, ON, Canada.
Emma RebleSt. Michael's Hospital, Toronto, ON, Canada.
Marc ClausenSt. Michael's Hospital, Toronto, ON, Canada.
Ridhi GopalakrishnanSt. Michael's Hospital, Toronto, ON, Canada.
Brooklyn SparkesMemorial University of Newfoundland, St. John's, NL, Canada.
Sepideh RajeziesfahaniMemorial University of Newfoundland, St. John's, NL, Canada.
Vernie AgudaSt. Michael's Hospital, Toronto, ON, Canada.
Derrick Bishop
Lesa DawsonMemorial University of Newfoundland, St. John's, NL, Canada.
Andrea EisenSunnybrook Health Sciences Centre, Toronto, ON, Canada.
Tracy GrahamSunnybrook Health Sciences Centre, Toronto, ON, Canada.
Jane GreenMemorial University of Newfoundland, St. John's, NL, Canada.
Chloe MightonSt. Michael's Hospital, Toronto, ON, Canada.
Julee Pauling
Claudia Pavao
Petros PechlivanoglouUniversity of Toronto, Toronto, ON, Canada.
Catriona Remocker
Sophie SunBC Cancer, Vancouver, BC, Canada.
Teresa Tiano
Angelina Tilley
Kevin ThorpeSt. Michael's Hospital, Toronto, ON, Canada.
Kasmintan SchraderBC Cancer, Vancouver, BC, Canada.ORCID http://orcid.org/0000-0002-7413-4314
Holly EtchegaryMemorial University of Newfoundland, St. John's, NL, Canada.
Yvonne BombardSt. Michael's Hospital, Toronto, ON, Canada. Yvonne.Bombard@utoronto.ca.ORCID http://orcid.org/0000-0002-9516-4539

Funding

Gouvernement du Canada | Canadian Institutes of Health Research (Instituts de Recherche en Santé du Canada) 178532Gouvernement du Canada | Canadian Institutes of Health Research (Instituts de Recherche en Santé du Canada) 188650
6 · The paper itself

Abstract

Individuals with hereditary cancer syndromes (HCS) face significant healthcare challenges, as they require lifelong surveillance for a multitude of at-risk organs. Despite the existence of HCS programs, literature has not elucidated the patient perspective of living with an HCS and the care journey. This study aimed to inform clinical practice by exploring the care experiences of HCS patients. HCS patients were purposely sampled from cancer/genetic clinics across three Canadian provinces to reflect demographic and clinical variations. Data collection included qualitative, semi-structured interviews. Analysis used interpretive descriptive methodology. Seventy-three participants were interviewed (39 Hereditary breast and ovarian cancer syndrome, 34 Lynch syndrome; 51 females, 21 males, 1 gender-diverse; aged 25-80). Participants described a sense of disorientation after their HCS diagnosis, with a sense of navigating a road without a map. These feelings emerged from the "fragmentation" of their care, bodies, and information from healthcare practitioners. Consequently, participants described experiencing uncertainty and distress, and desired care integration in the form of consistent, knowledgeable practitioners and a holistic approach to care. Key timepoints were revealed where increased psychological support may be required: following HCS diagnosis, when obtaining imaging results, and when undergoing risk-reducing surgery. This study highlights the need for a comprehensive, person-centered approach to HCS management.

Indexed as

Neoplastic Syndromes, HereditaryAdultAgedAged, 80 and overCanadaFemaleHumansMaleMiddle Aged

Identifiers

PMID41776346
PMCPMC13424579

What OpenQuestion holds

Textmetadata
Read underepoch 390

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.