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BRCA1/2 mutations, including large genomic rearrangements, among unselected ovarian cancer patients in Korea
Author(s) -
DoHoon Kim,
ChiHeum Cho,
Sun Young Kwon,
Nam Hee Ryoo,
DongSeok Jeon,
Wonmok Lee,
JungSook Ha
Publication year - 2018
Publication title -
journal of gynecologic oncology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.358
H-Index - 37
eISSN - 2005-0399
pISSN - 2005-0380
DOI - 10.3802/jgo.2018.29.e90
Subject(s) - multiplex ligation dependent probe amplification , sanger sequencing , medicine , ovarian cancer , oncology , breast cancer , mutation , cancer , nonsense mutation , cancer research , bioinformatics , genetics , biology , gene , missense mutation , exon
Twenty-two (16.8%) of the unselected ovarian cancer patients had mutations that were detected through comprehensive genetic testing. Ovarian cancer patients with Sanger-negative results should be considered for LGR detection if they have one blood relative with breast or ovarian cancer. The detection of more mutations in patients is important for efforts to provide targeted therapy to ovarian cancer patients.

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