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Article

Whole-Exome Sequencing Reveals High Prevalence of Germline Alterations in Neuroendocrine Neoplasms.

Journal of the National Comprehensive Cancer Network : JNCCN - 30 Jun 2025

Sukrithan Vineeth, Boateng Isaiah, Liyanarachchi Sandya, Jain Prachi, Buss Jill, Parwani Anil, Shah Manisha H, Das Komal, Yearsley Martha, Konda Bhavana, Brock Pamela, Eisfeld Ann-Kathrin

Abstract excerpt

BACKGROUND: Beyond syndromic tumor-predisposing conditions, germline susceptibility to neuroendocrine neoplasms (NENs) is not well understood. Familial clustering of cases and the co-occurrence of additional malignancies in patients suggest that additional, thus far unrecognized, germline predispositions to NEN development may exist. METHODS: We conducted whole-exome sequencing of germline and somatic DNA from a...

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Identifiers

PMID: 40588228
DOI: 10.6004/jnccn.2025.7035

Genes

MUTYH
ATP4A
MEN1
PAH
PKD1

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