Other Hereditary Syndromes

At Beaumont, we are able to evaluate and counsel patients with less common hereditary predisposition syndromes. If you have a personal and/or family history of any of the following syndromes, you may be a candidate for genetic counseling.

Below are descriptions and criteria of all the other syndromes we see patients and screen for cancer susceptibility at Beaumont.

Syndrome and Gene

Familial Melanoma (p16 or CDKN2A gene)

  • personal history of multiple cutaneous melanoma
  • 2 or more closely related family members with melanoma
  • pancreatic cancer
  • personal & family history of melanoma and multiple atypical moles

Li-Fraumeni Syndrome (p53 gene)

  • associated with soft-tissue sarcomas (usually diagnosed prior to 45 year old), breast cancer, leukemia, osteosarcoma, melanoma, and cancer of the colon, pancreas, adrenal cortex and brain
  • increased risk of multiple primary cancers in the same individual

Cowden Syndrome (PTEN gene)

  • a multiple hamartoma syndrome with a high risk of benign and malignant tumors of the thyroid, breast and endometrium
  • primary trichilemmomas and papillomatous papules, as well as acral and plantar keratose
  • macrocephaly (head size greater than or equal to 97th percentile)

Hereditary Diffuse Gastric Cancer(CDH1 or E-Cadherin gene)

  • 2 or more cases of diffuse gastric (stomach) cancer in 1st or 2nd degree relatives
  • at least one diagnosed prior to age 50 years)

OR

  • 3 or more cases of diffuse gastric cancers in 1st or 2nd degree relatives at any age
  • other cancers reported in HDGC families include colon cancer and lobular breast cancer

Von Hippel-Lindau (VHL gene)

  • hemangioblastomas of the brain, spinal cord, retina (retinal hemangioblastomas may be the initial manifestation and can cause vision loss
  • renal cysts & clear cell renal cell carcinoma (40% of patients)
  • pheochromocytomas (can by asymptomatic, but may cause sustained or episodic hypertension)
  • endolymphatic sac tumors (can cause hearing loss of varying severity)

Peutz-Jeghers Syndrome (PJS) (STK11 or LKB1 gene)

  • characterized by the association of gastrointestinal polyposis (hamartomatous polyps) and mucocutaneous pigmentation
  • hyperpigmentation of the digits and mucosa of the external genitalia
  • small bowel polyposis
  • breast cancer
  • pancreatic cancer

Juvenile Polyposis Syndrome (JPS) (BMPR1A, SMAD4 genes)

  • Juvenile Polyposis Syndrome (JPS) is diagnosed if any one of the following is present:
  • more than five juvenile polyps of the rectum

OR

  • multiple juvenile polyps throughout the GI tract

OR

  • any number of juvenile polyps and a family history of juvenile polyps
  • The term "juvenile" refers to the pathologic type of polyp, not the age of onset of polyps

Familial Retinoblastoma (RB1 gene)

  • retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before the age of 5 years
  • may be unilateral or bilateral, with bilateral tumors tending to be hereditary rather than sporadic
  • mutations in the RB1 gene predispose individuals to the disease and an increased risk of developing other retinoblastoma-related tumors (non-ocular)
  • other cancers may be osteosarcoma, sarcoma, malignant melanoma, brain tumors, breast cancer or leukemia

Familial Pancreatic cancer
5 to 10% of all pancreatic cancer cases are familial and are associated with a variety of hereditary cancer syndromes. These include:

  • Peutz-Jeghers syndrome
  • Hereditary pancreatitis
  • Familial pancreatic cancer syndrome 
  • FAMMM syndrome (familial atypic multiple mole melanoma) (p16)
  • Hereditary breast-ovarian cancer syndrome (BRCA1, 2)
  • Familial adenomatous polyposis (FAP)
  • Lynch syndrome (HNPCC)
  • Ataxia telangiectasia (ATM)   

There are several other hereditary cancer syndromes which occur infrequently. A detailed personal and family history will help us determine what test(s) are recommended for you.

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