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Table 3 Clinical criteria guidelines and mutation probability models utilized for HCRA

From: Hereditary cancer risk assessment: essential tools for a better approach

Syndrome Model Genes included* Clinical criteria/tumors included*
Hereditary breast and ovarian cancer Couch, Penn II, Myriad, Tyrer-Cuzick, BRCAPRO, BOADICEA BRCA1 Breast cancer (age<45, two primaries, male)
Ovarian cancer
Pancreatic cancer
Prostate cancer
Ashkenazi ancestry
Family history (one side)
Lynch Wijnen, MMRpro, MMRPredict, PREMM1,2,6 MLH1 Amsterdam I and II
MSH2 Bethesda (revised)
MSH6 Colorectal cancer
  Endometrial cancer
Li-Fraumeni and Li-Fraumeni like none none Classic
Chompret (revised)
Cowden Cleveland clinic PTEN International Cowden Consortium
Thyroid, oral papillomas, acral keratoses, skin lipomas, trichilemmomas, uterine leiomyomas, gastrointestinal polyps, dysplastic cerebellar gangliocytoma, fibrocystic breast disease
Hereditary melanoma MELApro CDKN2A Melanoma
  1. *included in mutation probability models.