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15%20%
(FAP, Familial adenomatous polyposis)
(HNPCC Hereditary non-polyposis colorectal cancer)Lynch (syndrome) [1]
Lynch2%-4% [2,3]
() 44 61
[4]
HNPCC 2004
Bethesda
Lynch Lynch
Lynch MMR
(mismatch repair gene)MMR
MLH1 MSH2 MSH6 PMS2EPCAM MMR
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Lynch( ) ( )
( )[1]
Lynch[5]
422016/5/21
pT3N1bM02016/6/20
5 FOLFOX2016/8/25
S6 S5
2016/9/21( )
52
S8 S62016/10/4
cT3N1M0 STAGE 3B( )2016/10/5 2017/01/116 FOLFOX
2017/01/19
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( ) 2017/02/01
ypT2N0M02017/4/1
DNA(Microsatellite instability analysis)
(deletion) MSH2(hMSH2)MSH6(hMSH6) 2p15
APC 5q22-23BRCA1 TP53 17q12
( ) Lynch
Lynch
(metachronous) Lynch
1~2
MSH6 PMS2
[6,7] 30
1997Bethesda Bethesda
[1]Lynch
(1) 50 (2)2
Lynch (3)60
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(4)50
Lynch (5)2
LynchLynch
1. 衛生福利部國民健康署 -遺傳疾病諮詢服務窗口 – Lynch Syndrome https://gene.hpa.gov.tw/index.php?mo=DiseasePaper&action=paper1_show&cate=Set1&csn=70&sn=311 (Accessed on 5th June 2017)
2. Jasperson KW, Tuohy TT, Neklason DW, et al. Hereditary and familial colon cancer.
Gastroenterology. 2010;138:2044–2058. 3. Lynch HT, de la Chapelle A. Hereditary
c o l o r e c t a l c a n c e r . N E n g l J M e d . 2003;348:919–932.
4. Hampel H, Stephens JA, Pukkala E, Sankila R, Aaltonen LA, Mecklin JP, de la Chapelle A. Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset. Gastroenterology. 2005; 129:415–421.
5. Kastrinos F, Stoffel EM. History, Genetics, and Strategies for Cancer Prevention in Lynch Syndrome. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association. 2014;12(5):715-727.
6. Baglietto L, Lindor NM, Dowty JG et al. Risks of Lynch syndrome cancers for MSH6 mutation carriers. J Natl Cancer Inst 2010;102:193–201.
7. Senter L, Clendenning M, Sotamaa K et al. The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology 2008;135:419–428.