Medical Genetics Cancer Genetics
Cancer Genetics Medical Genetics
Cancer Cancer is a class of diseases caused by loss of cell cycle control. In animals,cell numbers are under exquisite control Loss of this control leads to proliferation of unwanted cells】 Cancer arises when the above situation reaches a certain degree
Cancer is a class of diseases caused by loss of cell cycle control. Cancer ❖ In animals, cell numbers are under exquisite control ❖ Loss of this control leads to proliferation of unwanted cells ❖ Cancer arises when the above situation reaches a certain degree
Cancer Tumor Cancer cells are malignant tumor (vs. benign tumor)cells All cancer cells are eventually capable of metastasis 00-
Cancer & Tumor ❖ Cancer cells are malignant tumor (vs. benign tumor) cells ❖ All cancer cells are eventually capable of metastasis
Cancer Family Unusually large numbers of blood relatives develop certain kinds of cancers. 10R
Cancer Family Unusually large numbers of blood relatives develop certain kinds of cancers
Lynch Cancer Family Syndrome II "Family G":Italian family Warthin AS.Heredity with reference to carcinoma.Arch.Intern.Med.1913.12:546-555 Hauser叮，Veller C.VA further report on the cancer family of Warthin.Am.J.Cancer.1936. 27:434-449 Lynch HT,Krush AJ.Cancer family 'G' revisited:1895-1970.Cancer.1971.27:1505-1511
Lynch Cancer Family Syndrome Ⅱ “Family G”: Italian family Warthin AS. Heredity with reference to carcinoma. Arch. Intern. Med. 1913. 12: 546-555 Hauser IJ, Weller C. VA further report on the cancer family of Warthin. Am. J. Cancer. 1936. 27: 434-449 Lynch HT, Krush AJ. Cancer family 'G' revisited: 1895-1970. Cancer. 1971. 27: 1505-1511
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