Genes

Cowden Syndrome

Gene

PTEN

Component Cancers

Breast, uterine, thyroid, colon, and renal cancers

Of Note

Associated with macrocephaly; colon polyps (hamartomatous); skin finding such as acral keratosis, facial trichilemmomas, and oral papillomatous papules; autism; lipomas; fibrocystic breast disease; thyroid nodules; and uterine fibroids.

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Familial Adenomatous Polyposis (FAP)

Gene

APC

Component Cancers

Colorectal, small bowel, gastric, pancreatic, thyroid, hepatoblastoma, and CNS tumors

Of Note

Individuals with FAP develop hundreds to thousands of colorectal polyps beginning at age 16 on average. Colon cancer risk is essentially 100 percent without intervention. Attenuated FAP (AFAP) is a less severe phenotype.

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Hereditary Diffuse Gastric Cancer

Gene

CDH1

Component Cancers

Diffuse gastric cancer and lobular breast cancer

Of Note

Gastric cancer incidence varies widely by geographic regions. Patient’s origin should be considered when evaluating CDH1 criteria.

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Juvenile Polyposis Syndrome (JPS)

Gene

BMPR1A and SMAD4

Component Cancers

GI juvenile-type hamartomatous polyps (stomach, small intestine, colon, and rectum); colon, stomach, upper GI, and pancreatic cancers

Of Note

SMAD4 mutations are also associated with hereditary hemorrhagic telangiectasia (HHT).

Lynch Syndrome

Gene

MLH1, MSH2, MSH6, PMS2, EPCAM

Component Cancers

Colorectal, uterine, ovarian, gastric, small bowel, pancreatic, CNS tumors, bladder/ureter cancer, hepatobiliary, and renal cancers

Of Note

Lifetime cancer risks are based on which gene has the mutation; MLH1 and MSH2 have the highest cancer risks. Tumor testing and germline genetic testing are used to identify individuals and families with Lynch syndrome.

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Moderate Risk Cancer Gene

Gene

CHEK2

Component Cancers

Breast, colon, prostate and possibly ovarian, thyroid, and renal cancers

Of Note

1100delC mutation is the most common CHEK2 mutation in Northern European populations.

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MYH Associated Polyposis (MAP)

Gene

MUTYH

Component Cancers

Colorectal, small bowel, and gastric cancers

Of Note

MAP is a recessively inherited cancer syndrome; two MUTYH gene mutations cause MAP. Individuals with one MUTYH mutation may have a slightly increased risk for cancer but the risk is not established at this time (approximately 1-2 percent of the population has one MUTYH mutation).

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Newer Polyposis Genes

Gene

POLD1, POLE, GREM1

Component Cancers

Colorectal cancer and adenomas

Of Note

Phenotype of POL gene mutations may resemble Lynch-like families. Founder mutation in GREM1 identified in Ashkenazi Jewish population.

Peutz-Jeghers Syndrome

Gene

STK11

Component Cancers

Small bowel, colon, stomach, pancreatic, breast, cervical, ovarian sex cord tumors (SCTATs), and sertoli cell tumors

Of Note

Classic pigmentation of lips and buccal mucosa, typically seen PJ-type hamartomatous polyps.