Evidence map›Paper›PMID 38796637›Full record

ArticleNPJ precision oncology2024

Polygenic risk scores for autoimmune related diseases are significantly different in cancer exceptional responders.

Siyuan Chen, Amelia L M Tan, Maria C Saad Menezes, Jenny F Mao, Cassandra L Perry, Margaret E Vella, Vinayak V Viswanadham, Shilpa Kobren, Susanne Churchill, Isaac S Kohane

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in NPJ precision oncology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Article
  3. Towards a new taxonomy of preterm birth.Journal of perinatology : official journal of the California Perinatal Association · 2025
    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

10 authors.

Siyuan Chen *Department of Biomedical Informatics, Harvard Medical School, 10 Shattuck Street, Boston, MA, 02115, USA.
Amelia L M Tan *Department of Biomedical Informatics, Harvard Medical School, 10 Shattuck Street, Boston, MA, 02115, USA.
Maria C Saad MenezesDepartment of Biomedical Informatics, Harvard Medical School, 10 Shattuck Street, Boston, MA, 02115, USA.ORCID http://orcid.org/0000-0003-3314-8127
Jenny F MaoDepartment of Biomedical Informatics, Harvard Medical School, 10 Shattuck Street, Boston, MA, 02115, USA.
Cassandra L PerryDepartment of Biomedical Informatics, Harvard Medical School, 10 Shattuck Street, Boston, MA, 02115, USA.ORCID http://orcid.org/0009-0009-8492-6890
Margaret E VellaDepartment of Biomedical Informatics, Harvard Medical School, 10 Shattuck Street, Boston, MA, 02115, USA.
Vinayak V ViswanadhamDepartment of Biomedical Informatics, Harvard Medical School, 10 Shattuck Street, Boston, MA, 02115, USA.
Shilpa KobrenDepartment of Biomedical Informatics, Harvard Medical School, 10 Shattuck Street, Boston, MA, 02115, USA.
Susanne ChurchillDepartment of Biomedical Informatics, Harvard Medical School, 10 Shattuck Street, Boston, MA, 02115, USA.
Isaac S KohaneDepartment of Biomedical Informatics, Harvard Medical School, 10 Shattuck Street, Boston, MA, 02115, USA. isaac_kohane@harvard.edu.ORCID http://orcid.org/0000-0003-2192-5160

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A small number of cancer patients respond exceptionally well to therapies and survive significantly longer than patients with similar diagnoses. Profiling the germline genetic backgrounds of exceptional responder (ER) patients, with extreme survival times, can yield insights into the germline polymorphisms that influence response to therapy. As ERs showed a high incidence in autoimmune diseases, we hypothesized the differences in autoimmune disease risk could reflect the immune background of ERs and contribute to better cancer treatment responses. We analyzed the germline variants of 51 ERs using polygenic risk score (PRS) analysis. Compared to typical cancer patients, the ERs had significantly elevated PRSs for several autoimmune-related diseases: type 1 diabetes, hypothyroidism, and psoriasis. This indicates that an increased genetic predisposition towards these autoimmune diseases is more prevalent among the ERs. In contrast, ERs had significantly lower PRSs for developing inflammatory bowel disease. The left-skew of type 1 diabetes score was significant for exceptional responders. Variants on genes involved in the T1D PRS model associated with cancer drug response are more likely to co-occur with other variants among ERs. In conclusion, ERs exhibited different risks for autoimmune diseases compared to typical cancer patients, which suggests that changes in a patient's immune set point or immune surveillance specificity could be a potential mechanistic link to their exceptional response. These findings expand upon previous research on immune checkpoint inhibitor-treated patients to include those who received chemotherapy or radiotherapy.

Identifiers

PMID38796637
PMCPMC11127926

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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.