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Study Finds Potential Link Between BRCA1/2 Mutations and Salivary Gland Cancer

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Key Points

  • A retrospective study found an association between BRCA1/2 mutations and salivary gland cancer.
  • The observed rate of head and neck cancers in BRCA mutation–positive patients and likely carriers (0.052%) is significantly higher than the incident rate in the general population (0.003%).
  • The finding is preliminary and must be verified, but the authors suggest that it should be considered during genetic counseling for people with BRCA1 or BRCA2 mutations.

The risk of developing cancer in a salivary gland might be higher in people with BRCA1 or BRCA2 mutations, which are associated with breast and ovarian cancer, according to a new study by researchers at The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute (OSUCCC – James). The findings by Shen et al were published in JAMA Otolaryngology–Head & Neck Surgery.

It is well known that women who inherit mutations in either of the two genes have a higher risk of breast and ovarian cancer than women without the mutation; men with the mutations are also at higher risk of breast cancer. In addition, the two mutated genes are linked to prostate, pancreatic, and other cancers. 

Cancers of the salivary glands are rare in the United States, with about three cases occurring annually per 100,000 adults in the general population (0.003%). This retrospective study suggests it occurs 17 times more often in people with inherited mutations in the BRCA1 and BRCA2 genes than those in the general population.

Study Details

For this study, the investigators searched a large BRCA gene–mutation database maintained by the OSUCCC – James Clinical Cancer Genetics Program for salivary gland cancers. Among 5,754 people with mutations in either the BRCA1 or BRCA2 gene, the researchers identified three cases of salivary gland cancer (0.052%).

“I would like physicians and dentists to realize that BRCA mutations carry risks for salivary gland cancer as well as breast cancer, and to remember that salivary glands include not only the paired parotid glands and submandibular glands but also innumerable minor salivary glands in the oral cavity,” said coauthor Theodoros Teknos, MD, Professor and Chair of Otolaryngology, Director of Head and Neck Oncologic Surgery, and the David E. Schuller, MD, and Carole H. Schuller Chair in Otolaryngology at the OSUCCC – James.

Preliminary Results

“Further study is needed to confirm this preliminary result, but I believe that a BRCA-positive patient with a lump in a salivary gland should have that lesion evaluated as soon as possible,” said Dr. Teknos.

The study’s principal investigator, Rebecca Nagy, MS, a certified genetic counselor and Clinical Associate Professor of Human Cancer Genetics at the OSUCCC – James, recommended that individuals who carry a BRCA mutation need to be made aware of this possible association.

“The finding should be considered during genetic counseling of families with inherited BRCA1 or BRCA2 mutations,” said Ms. Nagy. “In the future, patients with salivary-gland cancer and their family members might be referred for BRCA testing, or carriers of BRCA mutations might undergo surveillance for salivary gland cancers.”

Tim K. Shen, MS, of The Ohio State University College of Medicine, is the corresponding author for the JAMA Otolaryngology–Head & Neck Surgery article.

The study was funded by the Sandy Slomin Foundation.

The content in this post has not been reviewed by the American Society of Clinical Oncology, Inc. (ASCO®) and does not necessarily reflect the ideas and opinions of ASCO®.


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