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Peer-Reviewed Publication
Eur J Breast Health2026;22(3):8.July 1, 2026Conference Proceedings

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

Kimberly Van Ysseldyk1, Monique Tiffany1
1Myriad Genetics, Inc., Utah, USA.
PubMed

Abstract

OBJECTIVE: Germline pathogenic or likely pathogenic variants (PV/LPVs) in SDHx (SDHA, SDHB, SDHC, SDHD) cause hereditary paraganglioma and pheochromocytoma (PPGL) syndromes and are linked to other tumors, such as renal cell carcinoma (RCC) and gastrointestinal stromal tumors (GIST). As SDHx variants are increasingly identified on multigene panels, questions have arisen about a possible association…

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