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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Hereditary Breast and Ovarian Cancer Syndrome

Gene

BRCA1 and BRCA2

Component Cancers

Breast, ovarian, prostate, male breast, pancreatic, melanoma, and possibly colon cancers

Of Note

There are three common founder mutations in the Ashkenazi Jewish population.

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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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Li-Fraumeni Syndrome

Gene

TP53

Component Cancers

Early-onset breast cancer, sarcomas, brain tumors, leukemia, lymphoma, and adrenal cortical carcinoma

Of Note

Individuals with LFS have a 50 percent risk for cancer by age 30 and 90 percent by age 60. They often have multiple tumors. Individuals are radiation sensitive – radiation therapy poses a risk for causing subsequent tumors and should be avoided when possible.

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Moderate Risk Breast Cancer Genes

Genes

ATM, CHEK2, PALB2

Component Cancers

ATM*: Breast, pancreatic, and possibly ovarian, prostate, melanoma, endometrial, head and neck, and hematologic cancers

CHEK2: Breast, colon, prostate and possibly ovarian, thyroid, and renal cancers

PALB2*: Breast, pancreatic, and possibly ovarian

* These risks are associated with heterozygous mutations.

Of Note

ATM: Individuals with two separate (homozygous) ATM mutations have a syndrome known as ataxia telangiectasia.

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

PALB2: PALB2 works in the same biochemical pathway as BRCA2. Magnitude of breast cancer risk is linked to family history: lifetime risk of breast cancer increases with number of close relatives diagnosed with breast cancer at a young age.

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CHEK2 Fact Sheet - English

PALB2 Fact Sheet - English

Neurofibromatosis Type 1

Gene

NF1

Component Cancers

Breast cancer, gliomas, malignant peripheral nerve sheath tumors, pheochromocytoma, leukemia, GIST, and rhabdomyosarcoma

Of Note

Clinical diagnosis is typically made during childhood based on classic noncancerous findings, including neurofibromas, café au lait macules, axial/inguinal freckling, Lisch nodules, bone

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.