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

Author:

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

Funder

Korea Health Technology R&D Project

Korea Health Industry Development Institute

Ministry of Health & Welfare, Republic of Korea

Publisher

Elsevier BV

Subject

General Medicine,Surgery

Reference32 articles.

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2. Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium;Easton;Am J Hum Genet,1995

3. SEER cancer statistics review, 1975–2011;Howlader,2014

4. Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals;Frank;J Clin Oncol,2002

5. BRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management;Lindor;Oncologist,2013

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