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. 2025 Aug 23;16:1599. doi: 10.1007/s12672-025-03427-w

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