"Oh, and by the way..." A Lynch Syndrome Story

Alice Kerber, MN, APRN, ACNS-BC, AOCN, APNG

Families are communities within themselves—full of intrigue, adventures, worries, joys, and assorted characters. To one family, each event is a crisis, while to another each crisis may be an expected event. For each, some tipping point changes perspective on the situation.

Such was the case with the family Z. I met this family 4 years ago when the son (AZ) was referred to me by a gastroenterologist for genetic education and possible testing after a normal colonoscopy. His 27-year-old-sister (BZ) had just been diagnosed with Stage IV colon cancer and was in the process of recovering from surgery and about to begin chemotherapy; her genetic testing was pending at another facility. I left a phone message for AZ. His mother (Mrs Z) returned my call, explaining that her son was 18 years old, had just gone back to college for the semester, and could she and her husband (Mr Z) come talk to me instead?

We made the appointment, and I gave them educational materials and explained what family history information (three generations, maternal and paternal, cancers [including age of diagnosis, death, and any other specifics]) they should collect in order to develop a pedigree for the family. On the phone, Mrs. Z said there was “not much cancer” on either side, and they were surprised by their daughter’s diagnosis.

At the appointment, we discussed Lynch syndrome, associated cancers, and mismatch repair genes as a differential diagnosis for their daughter. They had not participated in any discussion with her genetic counselor, explaining they were a very private family and wanted to keep information contained. Information about her diagnosis was discussed only in general terms. We discussed insurance concerns and privacy issues.

At this point, we had developed some rapport, and I began to collect the family history. The couple had three children: BZ with the colorectal cancer diagnosis, and a 24-year-old daughter (EZ) and 18-year-old son AZ, both of whom had recently had negative colonoscopies. Mrs Z had some relatives with diabetes and heart disease, but no cancer of which she was aware. Her parents were alive and well in their 80s, and her sister and brother were both alive and well in their late 60s.

Mr Z revealed that he had colon cancer in his 40s (he was 65 at the time of this appointment) that was successfully treated with surgery. His sister had died at age 60 with uterine cancer and “had always had female problems,” he said. He had no other siblings. I asked about his parents, and he said “oh, and by the way…” His mother and all nine of her brothers and sisters were diagnosed with colon cancer in their 40s, had surgery, and all were alive and in their 80s.

I was impressed by this compelling family history as he went on to say that his family really didn’t see colon cancer as a problem, as his relatives just had surgery and went on to have normal lifespans. Colonoscopies were something everyone in the family did every year starting at age 30. It was only his daughter’s diagnosis that “seemed like a problem or really counted as cancer.” They were aware that she was younger, had symptoms, and a more advanced stage of disease at diagnosis. This was different and a bit disconcerting for this otherwise seemingly unflappable family. We drew a pedigree which seemed to point to at least a familial tendency for colon cancer.

At that point, Mr and Mrs Z were ready to go home, consider the information they had been given, and help their daughter recover. As their other two children had recent normal colonoscopies, they would wait to make any decision about genetic testing until their affected daughter’s test results were known. They would contact me when they were ready to move forward.

Two Years Later

Mrs Z called. Mr Z had a recurrence of his colon cancer and wanted to be tested. Their daughter had a deleterious mutation in MLH1, had completed her chemotherapy, and was doing well. When we met, we discussed single-site testing since we knew of a familial deleterious mutation, but they preferred full sequencing which included MLH1, MSH1, MSH2, PMS2, and EPCAM in order to obtain the most information. While waiting for results, Mr. Z had consultations with colorectal surgeons. When his testing came back with the same nonsense mutation (MLH1, K461x) as his daughter, a total colectomy was recommended and completed within 3 weeks of testing.

During Mr. Z’s surgical stay, his other daughter (EZ) approached me for information about the testing process and potential impact for her. Now 26 years old, EZ was engaged to be married and starting a new job. In light of two first-degree relatives with this same mutation, single-site testing was recommended. I met with her and her fiancé (together and separately) several times prior to testing, discussed potential results, general information about Lynch syndrome, impact on insurance, risk for cancer and potential to pass on a mutation with childbearing, risk-reduction interventions, and surveillance recommendations. She proceeded to obtain life insurance. She had single-site testing that revealed that she had the same deleterious nonsense mutation. She was referred to a gastroenterologist and gynecologist for follow-up and surveillance per National Comprehensive Cancer Network guidelines. She married 6 months later.

To date, AZ, now 21 years of age, has not had testing or counseling but has annual colonoscopies. His sisters continue to encourage him to have testing. I have given him counseling resources that are closer to his school.

Members of a family will not necessarily respond the same way to information or a situation. Our responsibility is to provide resources, education, and opportunities to express concerns in a nonthreatening environment—oh, and by the way… in their timeframe.

Alice S. Kerber is the oncology and genetics nurse specialist with Georgia CORE—the Center for Oncology Research and Education, a nonprofit organization working to improve the quality of cancer care in Georgia. Her 35 years of oncology nursing experience includes both inpatient and outpatient settings, and over the past 15 years her practice has focused on prevention and early detection of all cancers with special interest in hereditary risk assessment. This article originally appeared in the August 2013 edition of Cancer Genetics, a Special Interest Group newsletter published by the Oncology Nursing Society.