Evidence map›Paper›PMID 39568439›Full record

ArticleHaematologica2025

Investigating the influence of germline

Roberta S Azevedo, Francesca Morelli, Kiyomi Mashima, Rayan Fardoun, Svitlana Tyekucheva, Stacey Fernandes, Samantha Shupe, Marissa Terra, Anisha Patel, Matthew S Davids and 2 more

Abstract read
In one paragraph

Article in Haematologica, 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

12 authors.

Roberta S AzevedoDepartment of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA; Hospital Nove de Julho, São Paulo, BR.
Francesca MorelliDepartment of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA; Department of Hematology, University of Florence, Florence, IT.
Kiyomi MashimaDepartment of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA.
Rayan FardounDepartment of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA.
Svitlana TyekuchevaDepartment of Data Science, Dana-Farber Cancer Institute, Boston, MA, USA; Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA.
Stacey FernandesDepartment of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA.
Samantha ShupeDepartment of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA.
Marissa TerraDepartment of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA.
Anisha PatelDepartment of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA.
Matthew S DavidsDepartment of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA; Department of Medicine, Harvard Medical School, Boston, MA.
Joseph YuDepartment of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA.
Jennifer R BrownDepartment of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA; Department of Medicine, Harvard Medical School, Boston, MA. jennifer_brown@dfci.harvard.edu.

Funding

Physician Scientist Training in Cancer ResearchT32CA009172 · NCI · DANA-FARBER CANCER INSTITUTE · PI Jennifer R Brown, James A. DeCaprio · 1985 to 2026
$17.1M
Genetic Predisposition to Chronic Lymphocytic Leukemia (CLL)R01CA258924 · NCI · DANA-FARBER CANCER INST · PI BROWN, JENNIFER R · 2021 to 2025
$3.1M
NCI NIH HHS R01 CA258924NCI NIH HHS T32 CA009172
6 · The paper itself

Abstract

Chronic lymphocytic leukemia (CLL) patients have an increased risk of secondary cancers, along with predisposition to CLL in their relatives. We have previously identified germline ATM variants as associated with CLL risk. Here, we present their impact on predisposition to secondary neoplasms in CLL patients and their relatives. Patients enrolled in our tissue bank who had germline ATM status available were mailed a questionnaire between April 2022 and May 2023. Of the 333 patients who replied to the questionnaire, 283 patients (85%) reported at least one relative with a cancer history. The prevalence of family history of B-cell lymphoproliferative disorders was significantly higher (P=0.02) in patients with germline ATM variants (32%) compared to those without germline ATM variants (21%) including familial CLL (25% vs. 18%) (P=0.04). No significant difference in the prevalence of secondary cancers was found between patients with and without germline ATM variants (P=0.73), although the role for individual ATM variants in other malignancies could not be excluded given the small sample size. Time to first CLL treatment (TTFT) was shorter in patients harboring somatic ATM events while no difference was observed in patients with germline ATM variants. In conclusion, we demonstrate a higher prevalence of B-cell lymphoproliferative disorders, including familial CLL, in relatives of CLL patients carrying germline ATM variants. The presence of these germline variants did not impact TTFT compared to patients harboring somatic ATM mutations.

Indexed as

Ataxia Telangiectasia Mutated ProteinsGenetic Predisposition to DiseaseGerm-Line MutationLeukemia, Lymphocytic, Chronic, B-CellNeoplasms, Second PrimaryAdultAgedAged, 80 and overFemaleHumansMaleMiddle AgedAtaxia Telangiectasia Mutated ProteinsATM protein, human

Identifiers

PMID39568439
PMCPMC11959239

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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.