Evidence map›Paper›PMID 41954412›Full record

ArticleGenes, chromosomes & cancer2026

Causative Role for a BRCA2 Germline Pathogenic Variant in External Auditory Canal Squamous Cell Carcinoma.

José Camacho-Valenzuela, Dylan Pelletier, Paz Polak, Lili Fu, Nancy Hamel, Carla Daniela Robles-Espinoza, William D Foulkes

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, chromosomes & cancer, 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

7 authors.

José Camacho-ValenzuelaDepartment of Human Genetics, Medicine, McGill University, Montreal, Quebec, Canada.ORCID 0000-0002-0081-7964
Dylan PelletierDepartment of Human Genetics, Medicine, McGill University, Montreal, Quebec, Canada.
Paz PolakQuest Diagnostics, Secaucus, New Jersey, USA.
Lili FuDepartment of Pathology, McGill University, Montreal, Quebec, Canada.
Nancy HamelCancer Research Program, Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.
Carla Daniela Robles-EspinozaInternational Laboratory of Research of the Human Genome, National Autonomous University of Mexico, Querétaro, México.
William D FoulkesDepartment of Human Genetics, Medicine, McGill University, Montreal, Quebec, Canada.ORCID 0000-0001-7427-4651

Funding

CIHR FDN-148390
6 · The paper itself

Abstract

External auditory canal squamous cell carcinoma (EACSCC) is rare, affecting 1.6 in a million individuals. We report a case of EACSCC in a 66-year-old woman carrying a heterozygous BRCA2 germline pathogenic variant (GPV) (c.8537_8538del), with prior history of breast cancer. Tumor copy-number analysis showed loss of heterozygosity at the BRCA2 locus. Genomic scar analysis supported homologous recombination repair deficiency (HRD), with mutational signatures showing the predominance of APOBEC activity and lower contributions of HRD-associated single base (SBS3, SBS8) and INDEL (ID6) signatures. A somatic TP53 pathogenic variant was also identified. These findings suggest a contributory role for BRCA2 in EACSCC development.

Indexed as

BRCA2 ProteinCarcinoma, Squamous CellEar CanalEar NeoplasmsGerm-Line MutationAgedFemaleHumansLoss of HeterozygosityBRCA2 ProteinBRCA2 protein, humanBRCA2EACSCCHRDmutational signaturesWES

Identifiers

PMID41954412
PMCPMC13064416

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Registered trials

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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.