Evidence map›Paper›PMID 42521810›Full record

ReviewEuropean journal of human genetics : EJHG2026

Bridging the gap: integrating hereditary cancer into precision oncology.

Alejandra Rezqallah, Mara Cruellas, Judith Balmaña

Abstract readReview
In one paragraph

Review 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. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

3 authors.

Alejandra Rezqallah *Hereditary Cancer Genetics Group, Medical Oncology Department, University Hospital Vall d'Hebron and Vall d'Hebron Institute of Oncology, Barcelona, Spain.
Mara Cruellas *Hereditary Cancer Unit, Medical Oncology Department, University Hospital Lozano Blesa / Instituto de Investigación Sanitaria de Aragón, Zaragoza, Spain.
Judith BalmañaHereditary Cancer Genetics Group, Medical Oncology Department, University Hospital Vall d'Hebron and Vall d'Hebron Institute of Oncology, Barcelona, Spain. jbalmana@vhio.net.ORCID http://orcid.org/0000-0002-0762-6415

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Advances in next-generation sequencing have expanded the identification of hereditary cancer patients, which account for approximately 10% of all cancer diagnoses. Precision medicine has profoundly reshaped the landscape of oncology, particularly in the management of hereditary cancer syndromes, through the convergence of germline genetics and targeted therapeutics. Disruption of homologous recombination repair genes such as BRCA1/2 and PALB2 confers synthetic lethal sensitivity to Poly ADP-ribose polymerase inhibitors and combination strategies targeting replication stress or cell-cycle checkpoints. Mismatch repair deficiency results in microsatellite instability and an increased neoantigen load, enabling durable responses to immune checkpoint blockade and supporting organ-preserving approaches in selected localized settings. Germline VHL inactivation induces a constitutive pseudohypoxic state that can be therapeutically exploited with HIF2α inhibitors in von Hippel-Lindau-associated neoplasms, illustrating interception of a lineage-agnostic metabolic axis. Activating germline RET pathogenic variants in hereditary medullary thyroid carcinoma demonstrate how highly selective kinase inhibitors can achieve superior efficacy-toxicity profiles compared with earlier multikinase agents. In patients with neurofibromatosis type 1, dysfunction of the neurofibromin GTPase-activating protein leads to RAS pathway hyperactivation, defining a rational therapeutic target. This evolving paradigm underscores the expanding role of germline testing beyond individuals with strong personal or family histories of cancer. Timely and equitable access to genetic results is essential to ensure that patients benefit from precision therapies without unnecessary delays. This review provides an integrative framework for bridging hereditary cancer and precision oncology.

Indexed as

Medical OncologyNeoplastic Syndromes, HereditaryPrecision MedicineHumans

Identifiers

PMID42521810
PMCPMC13550502

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.