Skip to main content


Table 1 Breast cancer susceptibility syndromes

From: Molecular tumor profiling: translating genomic insights into clinical advances

Syndrome Gene(s) responsible Other main tumor types
Familial breast and ovarian cancer syndrome BRCA1 and BRCA2 Ovary, prostate and pancreas
Li-Fraumeni syndrome P53 Sarcoma and brain
Cowdens syndrome PTEN Thyroid and endometrial
Mismatch repair syndrome MLH1 and MSH2 Gastrointestinal
Peutz-Jegher syndrome STK11 Gastrointestinal