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KMID : 1189120160130010055
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대한의학유전학회지
2016 Volume.13 No. 1 p.55 ~ p.58
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A rare pseudomyxoma peritonei with a MSH2 variation of unknown significance and two mutation carrier family members
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Kim Yoo-Min
Kim Min-Kyu
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Abstract
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Pseudomyxoma peritonei (PMP) is a rare tumor that usually originates in the appendix, but a small number of cases originate in the ovary. Lynch syndrome (LS) is an autosomal dominant hereditary condition that increases the risk of cancer, particularly in the colon and endometrium. Mutations in the mismatch repair genes (MSH2, MLH1, MSH6, and PMS2) increase the risk of LS. Reported PMP cases with hereditary gene mutations of unknown significance are also rare. Here, we investigated a PMP patient and her family members, who have an MSH2 variant of unknown significance. Physicians have an important role in counseling, management, and surveillance based on genetics and pathogenicity.
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KEYWORD
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Pseudomyxoma peritonei, Lynch syndrome, Germ-line mutation
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