Abstract 1122: Germline mutation prevalence in young adults with cancer

• Published in: Cancer research (Chicago, Ill.) Ill.), 2020-08, Vol.80 (16_Supplement), p.1122-1122
• Main Authors: Stadler, Zsofia K., Maio, Anna, Padunan, Angelika, Kemel, Yelena, Salo-Mullen, Erin, Sheehan, Margaret, Belanfanti, Kimeisha, Tejada, Prince R., Birsoy, Ozge, Mandelker, Diana, Zhang, Liying, Galle, Jesse, Feldman, Darren, Boucai, Laura, Bender, Julia Glade, Piotrowski, Anna, Aghajanian, Carol, Cadoo, Karen A., Carlo, Maria I., Walsh, Michael, Janjigian, Yelena, O'Reilly, Eileen, DeAngelis, Lisa M., Solit, David B., Taylor, Barry, Cercek, Andrea, Tap, William, Robson, Mark E., Berger, Michael F., Offit, Kenneth, Diaz, Luis A.
• Format: Article
• Language: English
• ISSN: 0008-5472; 1538-7445
• DOI: 10.1158/1538-7445.AM2020-1122

The identification of germline pathogenic variants in young adult cancer patients is especially critical given risk of second primary cancers, need for appropriate long-term surveillance, potential reproductive implications, and cascade testing of at-risk family members. We sought to determine the prevalence of germline susceptibility in cancer patients, age 18-39, across diverse solid tumor phenotypes. A total of 1201 cases, diagnosed between ages 18-39 were prospectively ascertained from 2015-2019 under a human subjects-approved protocol that provided result transmission of germline analysis. A next-generation sequencing panel consisting of up to 88 genes previously implicated in cancer predisposition (MSK-IMPACT) was utilized. Based on SEER data, we refined our population of young cancer patients into those with 1) early-onset cancer (EO-CA), defined as cancer wherein age 39 is >1 standard deviation (STD) below the mean age of diagnosis for that cancer type and 2) young-adult cancer (YA-CA), defined as cancer wherein age 39 is