A Stomach Cancer Survivor’s Story of Genetic Counselling

November 6th, 2020

Early stage stomach cancer often goes without any signs or symptoms, making it difficult to detect. For this reason many stomach cancer patients are diagnosed at a later stage.

The following story is about Kristy who discovered she was at risk for stomach cancer while undergoing genetic counseling to determine her risk for breast cancer (BRCA gene).

Kristy Harris: Stomach Cancer Survivor/ Genetics


Even though Kirsty Harris was young and had no personal history of cancer, she decided to pursue genetic counseling due to a strong family history. Her mother was diagnosed with breast cancer before the age of 50, and Kirsty herself had been found to have atypical breast cells. In 2015, when Kirsty and her husband moved from Australia to the United States, she knew the importance of finding care and continuing to be followed. After speaking with her doctor, she was referred to the Smilow Cancer Genetics & Prevention Program at Smilow Cancer Hospital, where she met with genetic counselor Jessica DiGiovanna to discuss her risks and what genetic testing would mean for her. The Smilow Cancer Genetics & Prevention Program is an interdisciplinary team that includes geneticists, genetic counselors, physicians and nurses who work together with the goal of providing cancer risk assessment and taking steps to prevent the development of cancer.

After watching her own mother endure extensive treatment for stage three breast cancer, Kirsty jumped at the opportunity to have a say in her own health and future at the age of 30. In addition to testing for the more commonly known BRCA gene, it was decided that Kirsty be tested for an extended panel of genes, including a lesser known gene, CDH1, which is associated with a higher risk of both breast and gastric cancers. To everyone’s surprise, Kirsty tested positive for CDH1 and negative for BRCA. The discovery of this rare gene indicated that Kirsty had a significantly increased risk of developing stomach cancer, even though no one in her family had any form of gastric cancer.

“I had prepared myself for the possibility that I would test positive for BRCA and need a double mastectomy, but nothing could have prepared me for the news that I was also at risk for stomach cancer,” said Kirsty. “Thankfully the team at Smilow was prepared for action, and I met with Dr. Xavier Llor within a week of receiving the results.”

Xavier Llor, MD, PhD, Associate Professor of Medicine (Digestive Diseases) and Co-Director of the Smilow Cancer Genetics & Prevention Program, commented that it was an unusual finding due to the lack of family history. After going over the results and explaining the high risk for stomach and breast cancer with Kirsty, it was decided that an upper endoscopy would be performed with multiple biopsies taken before a removal of the stomach was considered. Out of the 100 biopsies taken from the stomach, Kirsty was found to have a small foci of cancer cells in one of the samples, or stage I stomach cancer. The cells found were consistent with the theory that the CDH1 mutation was the cause.

“The difficult decision of whether or not to have my stomach removed was therefore made for me,” commented Kirsty. “I would have probably delayed the surgery until my children were older, which would have made for a very different story. This was like finding a needle in a haystack. Finding these tiny spots of cancer in my stomach has led to life-saving results for me and my entire family.”

Dr. Llor commented that most often stomach cancer is diagnosed in more advanced stages and that it takes a combination of a high level of knowledge of this rare condition and the proper expertise in genetic testing to create these success stories. “A team approach has been critical to Kirsty’s care,” said Dr. Llor. “With the recent generalization in the use of genetic panels, more and more cases are being diagnosed that would not have been suspected using the standard clinical criteria, and therefore, would not have been tested for.”

Charles Cha, MD, FACS, Associate Professor of Surgery (Oncology and Gastrointestinal), performed the total gastrectomy with little complication. He was able to perform the procedure laparoscopically, which decreased Kirsty’s recovery time. Dr. Cha is one of only a few surgeons in the region that has considerable experience in laparoscopic and robotic surgery for gastric cancer.

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Stomach Cancer Resources

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