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Table 1 Hereditary pancreatic cancer genes and the 30 gene Color panel. Table listing the major genes associated with hereditary pancreatic adenocarcinoma, the name of the corresponding syndrome and additional cancer risks seen in each syndrome [27]. All of these genes are included in the 30 gene Color Genomics panel. Other genes also included in the 30 gene panel are MUTYH, MITF, BAP1, PTEN, CDH1, BMPR1A, SMAD4, GREM1, POLD1, POLE, CHEK2, NBN, BARD1, BRIP1, RAD51C, RAD51D [14]

From: CDKN2A founder mutation in pancreatic ductal adenocarcinoma patients without cutaneous features of Familial Atypical Multiple Mole Melanoma (FAMMM) syndrome

Gene

Syndrome

Associated Cancers/tumours

Estimated lifetime pancreatic cancer risk (to 70–80 years)

Included on the 30 gene panel

STK11

Peutz Jeghers syndrome

Breast, GI (pancreatic), gynecologic, nasal polyps

11–32%

Yes

PRSS1

Hereditary Pancreatitis

Pancreatic

20%–40%

No

CDKN2A/CDK4

Familial Melanoma (Pancreatic) Syndrome

Melanoma, pancreatic

17%

Yes

BRCA1/BRCA2

Hereditary Breast and Ovarian Cancer syndrome

Breast, ovarian, prostate, male breast, pancreatic

2%–8%

Yes

MLH1, MSH2, MSH6, PMS2, EPCAM

Lynch syndrome

Colon, uterine, ovarian, pancreatic

3%–4%

Yes

APC

Familial Adenomatous Polyposis

Colon, small intestine, desmoid

Elevated, not defined

Yes

TP53

Li Fraumeni syndrome

Breast (young), sarcoma, brain, adrenocortical, leukemia

Elevated, not defined

Yes

PALB2

familial pancreatic cancer

Breast, pancreatic

Elevated, not defined

Yes

ATM

familial pancreatic cancer

Breast, pancreatic

Elevated, not defined

Yes