ACOG Issues Guidelines for Hereditary Cancer Screening

Laurie Barclay, MD

May 22, 2015

Risk assessment for hereditary cancer is the key to identifying patients and families who may be at increased risk of developing certain types of gynecologic cancer, according to a new committee opinion from the American College of Obstetrics and Gynecology (ACOG).

"Obstetrician–gynecologists or other obstetric–gynecologic providers play an important role in the identification and referral of women at risk of these conditions," the authors state. "The focus of this Committee Opinion is hereditary cancer syndromes that include risks of breast cancer, ovarian cancer, and endometrial cancer."

The guidelines, published in the June issue of Obstetrics & Gynecology, recommend that clinicians refer patients to a genetic specialist if the initial screening suggests there might be a familial risk.

The opinion defines a hereditary cancer syndrome as "a genetic predisposition to certain types of cancer, often with onset at an early age, caused by inherited mutations in one or more genes." Most of these syndromes have autosomal dominant inheritance, and many of them result in cancer affecting multiple organs.

Specific recommendations and key points include the following:

  • Clinicians should perform and regularly update a hereditary cancer risk assessment on all their patients.

  • At a minimum, this screening should include a personal cancer history and a first- and second-degree relative cancer history, noting the type of primary cancer, age of onset, and paternal vs maternal lineage of the cancer in the affected family member or members. Ethnicity may also affect genetic susceptibility.

  • Clues to risk for hereditary cancer include cancer diagnosed at an unusually young age, several different types of cancer in the same person, multiple primary tumors in the same organ, several close blood relatives with the same type of cancer, unusual presentation of a specific type of cancer, certain birth defects known to be associated with inherited cancer syndromes, and triple-negative breast cancer or other cancers suggesting specific syndromes.

  • When the hereditary cancer risk assessment suggests increased risk for a hereditary cancer syndrome, the provider should refer the patient to a specialist in cancer genetics, or to a healthcare provider with expertise in genetics. That referral may result in genetic testing, if indicated, after expanded collection of family history data and further risk assessment, as well as education and counseling.

  • Hereditary breast and ovarian cancer syndrome, Lynch syndrome, Li-Fraumeni syndrome, Cowden syndrome, and Peutz-Jeghers syndrome are the most common hereditary cancer syndromes related to gynecologic cancer.

The authors have disclosed no relevant financial relationships.

Obstet Gynecol. 2015;125:1538-1543. Full text


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