AUTHOR=Macklin Sarah K. , Kasi Pashtoon M. , Jackson Jessica L. , Hines Stephanie L. 

TITLE=Incidence of Pathogenic Variants in Those With a Family History of Pancreatic Cancer

JOURNAL=Frontiers in Oncology

VOLUME=8

YEAR=2018

URL=https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2018.00330

DOI=10.3389/fonc.2018.00330

ISSN=2234-943X

ABSTRACT=<p>Discovery of a hereditary cancer syndrome can be one of the factors that determine whether a healthy individual completes pancreas cancer screening or whether an individual with cancer receives certain chemotherapies. Retrospective review was completed to determine the likelihood of detection of a pathogenic variant causing a hereditary cancer syndrome based on personal and family history. Study was completed through the hereditary cancer clinic at Mayo Clinic Florida over a 6 year period, 1/2012 through 1/2018. All participants were referred based on suspicion for a hereditary cancer syndrome based on personal and/or family history. Patients' personal oncologic history at time of consultation was recorded, as well as, cancer diagnoses in the family history and the number of family members with a history of pancreas cancer. Test result and gene name, if variant was pathogenic or likely pathogenic, were noted as well. A total of 2,019 patients completed genetic testing during study period. Personal history of cancer included a variety of primaries, including breast (<italic>N</italic> = 986), ovarian (<italic>N</italic> = 119), colon (<italic>N</italic> = 106), prostate (<italic>N</italic> = 65), and pancreas (<italic>N</italic> = 59). A positive result was discovered in 11% of the total group. Two hundred and eighty five reported a family history of pancreas cancer. The incidence of pathogenic variants was 13% (37/285) in those with any family history and 23% (13/56) in those with two or more relatives with pancreatic cancer. Those with multiple relatives with pancreatic cancer were significantly more likely to carry a pathogenic variant than those with a personal history of breast cancer under the age of 45 (23.2 vs. 11.9%, <italic>p</italic> = 0.02). Presence of multiple family members with a reported history of pancreatic cancer significantly increased the likelihood that a pathogenic variant would be identified in the patient even over other significant risk factors, like personal history of early onset breast cancer.</p>