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Suggestion of BRCA1 c.5339T>C (p.L1780P) variant confer from 'unknown significance' to 'Likely pathogenic' based on clinical evidence in Korea.

Breast (Edinburgh, Scotland) - 1 Jun 2017

Ryu Jai Min, Kang Goeun, Nam Seok Jin, Kim Seok Won, Yu Jonghan, Lee Se Kyung, Bae Soo Youn, Park Sungmin, Paik Hyun-June, Kim Jong-Won, Park Sung-Shin, Lee Jeong Eon, Kim Sung-Won

Abstract excerpt

PURPOSE: We describe a rationale for the re-classification of the BRCA1 c.5539T>C (L1780P) variant using a clinical evidence. METHODS: A retrospective review was conducted to identify all patients with breast or ovarian cancer and the L1780P variant between 2002 and 2015 at a single institution. RESULTS: We identified the BRCA1/2 genetic mutation test results of 1223 breast cancer patients and 174 patients with...

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PMID: 28364669
DOI: 10.1016/j.breast.2017.03.006

Genes

BRCA1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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