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Hereditary Nonpolyposis Colorectal cancer(HNPCC) -C743-

1. Á¤ÀÇ

»ó¿°»öü ¿ì¼ºÀÇ À¯Àü¹æ½ÄÀ¸·Î À¯ÀüµÇ¾î hereditary colon cancer¸¦ ÀÏÀ¸Å°´Â

´ëÀå¿ëÁ¾ÁúȯÀÌ´Ù.

2. ¿øÀÎ

* DNA nucleotide mismatch repair gene(hMLH, hMSH2, PMS, PMS2, GTBP)

ÀÇ germ line mutation¿¡ ÀÇÇØ ¹ß»ý

* AD pattern

3. Áø´Ü

* 3¸íÀÌ»óÀÇ °¡Á·±¸¼º¿øÀ¸·Î, ±×Áß 2¸íÀº 1Ã̰ü°è, Àû¾îµµ 2¼¼´ë¿¡ °ÉÃļ­ Á¸ÀçÇϸç

ÇѸíÀº 50¼¼ ÀÌÀü¿¡ Áø´ÜµÇ¾î¾ß ÇÑ´Ù.

* diffuse adenomatosis´Â ¾ø´Ù.

* Æò±Õ 40´ë Á߹ݿ¡ ¹ß»ý

4. ÀÓ»óÀû Ư¡

* multiple synchronous cancer(´ëºÎºÐ proximal to splenic flexure¿¡ ¹ß»ý)

* ovary, uterus, ureter, pancreas, stomach : high risk

* genetic test°¡ À¯¿ë

5. ÃßÀû°üÂû

* positive genetic test or genetic test¸¦ ½ÃÇàÇÏÁö ¸øÇßÀ» ¶§

colonoscopy¸¦ ¸Å 6°³¿ù¸¶´Ù(21-40¼¼) ±×ÈÄ¿£ ¸Å³â

¹«Áõ»óÀÇ ¿©¼ºÀº 18¼¼ºÎÅÍ pelvic examÀ» ¸Å 1-2³â¸¶´Ù

25¼¼ºÎÅÍ ¸Å³â pelvic exam & transvaginal USG

endometrial Bx°¡ ÇÊ¿äÇÒ¼öµµ ÀÖ´Ù.

** Bockus p1750

early onset, polyp 10°³ ¹Ì¸¸, tubular adenoma, Rt side¿¡ ÁÖ·Î ¹ß»ý

endometrial caµî µ¿¹Ý

1) Site-specific colon cancer(Lynch syndrome I)

young age¿¡ Áø´ÜµÇ¸ç proximal location

multiple colonic primary tumor

2) Cancer family syndrome(Lynch syndrome II)

AD, early onset colon cancer with proximal predominance

synchronous or metachronous colon cancer

endometrium, ovary cancer