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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)

BRCA2

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

Eeles

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.