Table 2.
Hereditary tumor syndromes associated with breast cancer
| Hereditary cancer syndrome | Susceptibility gene | Inheritance pattern | Affected site |
|---|---|---|---|
| Hereditary breast-ovarian cancer syndrome [30] | BRCA1、BRCA2 | Autosomal dominant inheritance | Breast cancer, ovarian cancer |
| Cowden syndrome [31] | PTEN、MMAC1、TEP1 | Autosomal dominant inheritance | Multiple colonic hamartomas, breast cancer, thyroid cancer |
| Li-Fraumeni syndrome [32] | TP53 | Autosomal dominant inheritance | Breast cancer, soft tissue sarcoma, osteosarcoma, brain tumor, leukemia, adrenocortical carcinoma |
| Lynch syndrome [33] | MLH1、MSH2、MSH6、PMS2、EPCAM | Autosomal dominant inheritance | Susceptibility to colon cancer, endometrial cancer, and rarer cancers such as those of the urinary tract, ovaries, small intestine, stomach, liver, and biliary tract |
| Hereditary diffuse gastric cancer | CDH1 [34]、CTNNA1 [35] | Autosomal dominant inheritance | Diffuse gastric cancer, lobular breast cancer |
| Peutz–Jeghers syndrome [36] | LKB1/STK11 | Autosomal dominant inheritance | Gastric cancer, breast cancer, pancreatic cancer |