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Germline APC I1307K and MITF E318K variants in a patient with high-grade serous ovarian carcinoma: A case report.

Cancer genetics - 1 Apr 2026

Covey Samantha C, Ortiz Michelle M De Jesus, Jernigan Amelia, Balakrishnan Ridin, Kim Sun Young, Miele Lucio

Abstract excerpt

We report the case of a 76‑year‑old woman with high‑grade serous ovarian carcinoma (HGSOC) who was found to carry germline variants in APC I1307K and MITF E318K. Although neither variant is an established contributor to ovarian cancer risk, their co‑occurrence raises the possibility of polygenic or modifier effects on tumor susceptibility. The APC I1307K allele is a founder variant linked to increased colorectal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41616432
DOI: 10.1016/j.cancergen.2026.01.011

Genes

APC
MITF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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