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Autosomal dominantPubMedPenetrance update

Characterizing Breast Cancer Prevalence Among Female SDHx Pathogenic Variant Carriers in a Laboratory Research Registry

Van Ysseldyk K, Tiffany MEur J Breast Health 2026 · July 2026
Relevance score
6/10
Disease / domain
Breast cancer in *SDHx* pathogenic variant carriers
Source
PubMed
PMID 42317087
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Gene / mechanism

Breast cancer prevalence in *SDHx* (SDHA, SDHB, SDHC, SDHD) pathogenic variant carriers

Summary

A laboratory registry study characterizes breast cancer prevalence in women carrying pathogenic variants in SDHx genes (SDHA, SDHB, SDHC, SDHD), primarily known for paraganglioma and pheochromocytoma predisposition. These data explore the potential expansion of the tumor spectrum of hereditary SDHx syndromes to breast cancer, an association still insufficiently documented to modify current surveillance recommendations.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

Analysis

The SDHx-breast cancer association is emerging and warrants attention, but registry data remain insufficient to modify current surveillance recommendations. These results justify a larger prospective study. Worth monitoring for oncogeneticists managing SDHx families with breast cancer history.

Why this score?

Impact 2/3Evidence 2/3Novelty 1/2Sample 1/1Publication 0/1

Clinical impact: 2/3 · Evidence strength: 2/3 · Novelty: 1/2 · Sample size: 1/1 · Publication status: 0/1 → Total: 6/10

Keywords

SDHBSDHxbreast cancerparagangliomatumor spectrum
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