癌症遗传学课件
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Genetics of Cancer
梅艳芳
沈ቤተ መጻሕፍቲ ባይዱ霞
陈晓旭
罗京
In the United State, more than 1 million people are diagnosed with cancer each year
In China, more than 2 million people are diagnosed with cancer each year, 1.5 million die.
Approximately 110 distinct types
Cancer Is Named for the Site in the Body Where It First Develops
Three main forms of cancer
③Hematopoietic and lymphoid malignancies
2. 通常由一个累积多种基因突变的体细胞 增殖而来;
3. 浸润生长或远端转移, 导致周围或远端 组织损伤和器官衰竭。
I. Cancer is a genetic disorder. Why? II. Genetic basis of cancer. What ? III. The hypothesis of carcinogenesis.
Cancer Spreads Step-by-Step
Uncontrolled division Invasion
Metastasis
Colon carcinomas to liver
肿瘤的概念
1. 由一群生长失去正常调控的细胞形成的 赘生物（neoplasm）。上皮细胞来源 的恶性肿瘤又称为癌症（Cancer） ； 间叶细胞来源的称为肉瘤（Sarcoma）。
(造血和淋巴系统恶性肿瘤)
Lymphoma
(Lymphoid) Leukimia
②Sacoma (肉瘤)
(Hematopoietic)
(Mesenchymal tissue) 2%
5% 3% 5%
ALL Other
AML
Melanomas
85%
①Carcinoma (癌) (Epithelial tissue)
1.3 Multifactorial inherited cancer
➢Cancer cluster: Large number of cases in
re江s苏tr盐ic城t市ed盐 area
河北涉县（固
都区龙冈镇新
新村等至少6、
➢岗B村r在:e最a近st的cancer-
7个村庄）： 上世纪80
七村A八初年步m，调e新查ri岗有ca， 117.7/10000
Cancer Is a Genetic Disorder
➢Cancer is, in essence, a genetic disease caused by germ-line or somatic cells gene disorder. -- 90% of cancer genes show somatic mutations in cancer, 20%
How?
Cancer and Genetics Diseases 1. Inherited cancer (遗传性肿瘤)
1.1 Single-gene inherited-Retinoblastoma
Cancer and Genetics diseases
1.2 Li-Fraumeni Syndrome --Cancer family
N ENGL J MED 353：11，2005
Cancer is one of the most common and severe diseases seen in clinical medicine
Strikes more than one third of the population （30%）. Accounts for more than 20% of all deaths. Responsible for more than 10% of the total cost of medical care in developed countries.
I. Inherited Cancer. Why? II. Genetic basis of cancer. What ? III. The hypothesis of carcinogenesis.
How?
Genetic basis of cancer
1. Chromosomal aberrations
年代的统计数 字显示，该地
5死7C亡个年癌h龄i症n都患a在者，，24/10000
域的食管癌、 胃癌发病率为
50岁到60岁之
全国平均发病
间。
率的20多倍。
Both of genetic factor and environment factor
contribute to tumorigenesis.
Green-breast cancer; Yellow- glioblastoma; Purple- lukemia; Blue- lung cancer; Orange-pancreatic carcinoma; Red- sarcoma; Brown-Wilms tumor
Cancer and Genetics diseases
•非整倍体（aneuploid）：X/23≠整数； •超二倍体(hyperdiploid)：比46多一条或几条染色体； •亚二倍体(hypodiploid)：比46少一条或几条染色体； •亚三倍体(hypotriploid)：比69少一条或几条染色体； •亚四倍体(hypotetraploid) ：比92少一条或几条染色体； •多倍体（polyploid）：染色体数目在三倍体以上者。 肿瘤由单克隆起源，但在生长过程中演变为多克隆，出现异 质性（heterogeneity)。其中占主导数目的克隆称为肿瘤的干 系（stem line）;占非主导数目的克隆称为旁系（side line）; 干系肿瘤细胞的染色体数目称为众数（modal number）。
show germline mutations and 10% show both. (Michael R. Stratton et
al . Nat Rev Cancer. 2004)
➢Carcinogens and certain behaviors increase rate of mutations and cancer risk
梅艳芳
沈ቤተ መጻሕፍቲ ባይዱ霞
陈晓旭
罗京
In the United State, more than 1 million people are diagnosed with cancer each year
In China, more than 2 million people are diagnosed with cancer each year, 1.5 million die.
Approximately 110 distinct types
Cancer Is Named for the Site in the Body Where It First Develops
Three main forms of cancer
③Hematopoietic and lymphoid malignancies
2. 通常由一个累积多种基因突变的体细胞 增殖而来;
3. 浸润生长或远端转移, 导致周围或远端 组织损伤和器官衰竭。
I. Cancer is a genetic disorder. Why? II. Genetic basis of cancer. What ? III. The hypothesis of carcinogenesis.
Cancer Spreads Step-by-Step
Uncontrolled division Invasion
Metastasis
Colon carcinomas to liver
肿瘤的概念
1. 由一群生长失去正常调控的细胞形成的 赘生物（neoplasm）。上皮细胞来源 的恶性肿瘤又称为癌症（Cancer） ； 间叶细胞来源的称为肉瘤（Sarcoma）。
(造血和淋巴系统恶性肿瘤)
Lymphoma
(Lymphoid) Leukimia
②Sacoma (肉瘤)
(Hematopoietic)
(Mesenchymal tissue) 2%
5% 3% 5%
ALL Other
AML
Melanomas
85%
①Carcinoma (癌) (Epithelial tissue)
1.3 Multifactorial inherited cancer
➢Cancer cluster: Large number of cases in
re江s苏tr盐ic城t市ed盐 area
河北涉县（固
都区龙冈镇新
新村等至少6、
➢岗B村r在:e最a近st的cancer-
7个村庄）： 上世纪80
七村A八初年步m，调e新查ri岗有ca， 117.7/10000
Cancer Is a Genetic Disorder
➢Cancer is, in essence, a genetic disease caused by germ-line or somatic cells gene disorder. -- 90% of cancer genes show somatic mutations in cancer, 20%
How?
Cancer and Genetics Diseases 1. Inherited cancer (遗传性肿瘤)
1.1 Single-gene inherited-Retinoblastoma
Cancer and Genetics diseases
1.2 Li-Fraumeni Syndrome --Cancer family
N ENGL J MED 353：11，2005
Cancer is one of the most common and severe diseases seen in clinical medicine
Strikes more than one third of the population （30%）. Accounts for more than 20% of all deaths. Responsible for more than 10% of the total cost of medical care in developed countries.
I. Inherited Cancer. Why? II. Genetic basis of cancer. What ? III. The hypothesis of carcinogenesis.
How?
Genetic basis of cancer
1. Chromosomal aberrations
年代的统计数 字显示，该地
5死7C亡个年癌h龄i症n都患a在者，，24/10000
域的食管癌、 胃癌发病率为
50岁到60岁之
全国平均发病
间。
率的20多倍。
Both of genetic factor and environment factor
contribute to tumorigenesis.
Green-breast cancer; Yellow- glioblastoma; Purple- lukemia; Blue- lung cancer; Orange-pancreatic carcinoma; Red- sarcoma; Brown-Wilms tumor
Cancer and Genetics diseases
•非整倍体（aneuploid）：X/23≠整数； •超二倍体(hyperdiploid)：比46多一条或几条染色体； •亚二倍体(hypodiploid)：比46少一条或几条染色体； •亚三倍体(hypotriploid)：比69少一条或几条染色体； •亚四倍体(hypotetraploid) ：比92少一条或几条染色体； •多倍体（polyploid）：染色体数目在三倍体以上者。 肿瘤由单克隆起源，但在生长过程中演变为多克隆，出现异 质性（heterogeneity)。其中占主导数目的克隆称为肿瘤的干 系（stem line）;占非主导数目的克隆称为旁系（side line）; 干系肿瘤细胞的染色体数目称为众数（modal number）。
show germline mutations and 10% show both. (Michael R. Stratton et
al . Nat Rev Cancer. 2004)
➢Carcinogens and certain behaviors increase rate of mutations and cancer risk