Lynch Cancer Family Syndrome II "Family G":Italian family MIM114400
Lynch Cancer Family Syndrome Ⅱ “Family G”: Italian family MIM 114400
Lynch Cancer Family Syndrome II "Family G":Italian family HNPCC:18q11-q12 Adenocarcinomas of the colon Carcinoma of endometrium Gastric cancer,ovary cancer,breast cancer
Lynch Cancer Family Syndrome Ⅱ HNPCC: 18q11-q12 ❖ Adenocarcinomas of the colon “Family G”: Italian family ❖ Carcinoma of endometrium ❖ Gastric cancer, ovary cancer, breast cancer
Qu'est-ce que c'est?,and why is it important? Another name for HNPCC (autosomal dominant) Most common form of hereditary colorectal cancer(CRC) 90%of cases result from mutation of one of several mismatch repair genes o most commonly MSH2,MLH1,and MSH6. Provided a detailed family history,it predicts the lifetime risk for CRC as well as many other non-colon cancers including endometrial,ovarian,small bowel,brain,and others. After diagnosis,targeted surveillance can significantly decrease patient morbidity and mortality
History-une petite deviation 1925-Michigan pathologist Aldred Scott Warthin studied the family history of his seamstress who first developed colon cancer,but later died of endometrial cancer. Her pedigree became known as“Family G”and illustrated a long line of CRC and endometrial cancer. Henry Lynch continued to study this phenomenon o In 1993 he extended the range of cancers to include ovarian,transitional-cell cancer of the renal pelvis, stomach,small bowel,and pancreatic cancers
Epidemiology CRC is the 3rd most common cancer in the US. and the 2nd most common cause of cancer death in the US. 10%of CRC is hereditary Lynch syndrome accounts for 2%-7%of all CRC cases. Women with Lynch syndrome have: 0 40-60%lifetime risk of developing colon cancer 0 40-60%lifetime risk for endometrial cancer 0 10-12%lifetime risk for ovarian cancer