New Name of 'King Syndrome' for Hereditary BRCA Mutations

Roxanne Nelson, RN, BSN

July 03, 2019

Mary-Claire King, PhD

The current term of hereditary breast and ovarian (HBOC) syndrome, which is commonly used for individuals with BRCA1 and BRCA2 genetic mutations, needs to be changed as it misleading, argues a US researcher.

The term HBOC is confusing to everyone, including patients, families, and clinicians because it connotates that BRCA1 or BRCA2 mutations only confer risk to women and only for breast and ovarian cancer.

In reality, these mutations exist in persons of both genders and are associated with a number of other cancers including prostate and pancreatic — but that message is not being conveyed.

The argument for a name change is outlined in a commentary published online July 3 in Nature.

Colin C. Pritchard, MD, PhD, head of precision diagnostics, Brotman Baty Institute for Precision Medicine, and codirector, Genetics and Solid Tumors Laboratory, University of Washington, Seattle, has proposed changing the name to King syndrome, in honor of Mary-Claire King, PhD.

King, Pritchard's colleague, was the first to recognize that hereditary breast and ovarian cancer were associated with a single gene, he notes.  

Naming the syndrome after a scientist involved in its discovery is not unusual, he commented to Medscape Medical News.

For example, there is Lynch syndrome, the original term for a genetic predisposition to having a higher risk for several cancers. Named after Henry T. Lynch, MD, PhD, who was one of the first to postulate that cancer could be hereditary, and who passed away just last month, the syndrome began to be referred to as hereditary nonpolyposis colorectal cancer syndrome or HNPCC.

However, during the past decade, Pritchard notes, clinicians have returned to calling the syndrome by its original name — Lynch syndrome. Similar to HBOC, the name HNPCC was viewed as misleading because it failed to accurately reflect the types of cancer linked to it. Although the risk of colorectal cancer is high, the syndrome is also associated with a higher risk for developing cancers of the endometrium, stomach, and some forms of bladder cancer, among many others.

"I think that changing HBOC to King syndrome would increase awareness that BRCA1 and BRCA2 mutations are not limited to women because the name does not imply cancer or gender specificity," he told Medscape Medical News.

"I also think it could lead to increased testing in both men and women, although I'd expect more of the increase would be for men," he added.

Pritchard cites an example of a recent patient, a man with late-stage prostate cancer. The patient knew his sister carried the BRCA2 mutation, and yet he had not undergone genetic testing because no healthcare provider had recommended the test. His cancer had advanced to the point where he was unable to walk due to pain and was considering hospice care when a new oncologist suggested genetic testing.

When it was discovered that he carried the BRCA2 mutation, a more effective treatment regimen was initiated, and within a few weeks, he was back on the golf course. In addition, the patient's two daughters, who didn't think they were at risk because the mutation was on their father's side, underwent testing and initiated preventive measures to reduce their risk of developing breast and ovarian cancer.

Part of this confusion, writes Pritchard, stems from the fact that individuals who are found to have BRCA1/2 mutations are described as having HBOC. The term is not only misleading but also "cumbersome and hard to remember."

The simple solution is to rename the syndrome, he argues, adding that King syndrome is easy to remember.

Guidelines have only recently been updated to include BRCA mutation testing in prostate cancer and should be considered standard of care, he explained.

"Nonetheless, because these guideline changes were so recent many men are still not being tested. My hope is that a new name such as King Syndrome that is not cancer-specific would raise awareness in men with metastatic prostate cancer and lead to more genetic testing," he said.

This testing would not only guide cancer therapy but provides a means to identify at risk family members through "cascade screening," he explained.

"So the effect of identifying a man who is a mutation carrier can be amplified across a family and potentially save lives," Pritchard said.

Simple and Flexible Names

Renaming HBOC may even "spark a wider discussion around confusing names" for other cancer genetic syndromes, says Pritchard. One example is hereditary diffuse gastric cancer syndrome, a rare inherited condition associated with an increased risk of gastric cancer primarily caused by an inherited CDH1 mutation. However, women with this mutation are also at a high risk for lobular breast cancer, and children face a higher risk of certain types of congenital malformation, such as a cleft lip.

"Ultimately, using names that are simple and flexible, instead of obtuse and out of step with emerging understanding, could save lives by improving communication and awareness," he writes.

The purpose of writing the Nature commentary was to start a discussion about replacing HBOC with King syndrome, he emphasized.

"Hopefully, this discussion will lead to using the new name in scientific publications, patient educational materials, and so on."

Pritchard has reported no disclosures other than being a colleague of King.

Nature. 2019;571:27-29. Full text

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