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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