1. 15%
20%
(FAP, Familial adenomatous
polyposis)
(HNPCC Hereditary
non-polyposis colorectal cancer)
Lynch (syndrome) [1]
Lynch
2%-4% [2,3]
(
) 44 61
[4]
HNPCC
2004
Bethesda
Lynch Lynch
Lynch
MMR
(mismatch repair gene)
MMR
MLH1 MSH2 MSH6 PMS2
EPCAM MMR

2. Lynch
( ) ( )
( )
[1]
Lynch
[5]
42
2016/5/21
pT3N1bM0
2016/6/20
5 FOLFOX
2016/8/25
S6 S5
2016/9/21
( )
5
2
S8 S6
2016/10/4
cT3N1M0 STAGE 3B( )
2016/10/5 2017/01/11
6 FOLFOX
2017/01/19

3. ( ) 2017/02/01
ypT2N0M0
2017/4/1
DNA
(Microsatellite instability analysis)
(deletion) MSH2(hMSH2)
MSH6(hMSH6) 2p15
APC 5q22-23
BRCA1 TP53 17q12
( ) Lynch
Lynch
(metachronous) Lynch
1~2
MSH6 PMS2
[6,7] 30
1997
Bethesda Bethesda
[1]
Lynch
(1) 50 (2)
2
Lynch (3)60

4. (4)
50
Lynch (5)
2
Lynch
Lynch
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.