Case Report: Coinheritance of Germline Mutations in APC and BRCA1 in Colorectal Cancer

Frontiers in Oncology

Haiyan Li¹  Lu Zhang¹  Lin Shao¹  Wei Huang²  Jin Bian³  Lin Wang⁴  Xiaoping Qian⁵ 

[1] Department of Medicine, Burning Rock Biotech, Guangzhou, China;Department of Oncology, Jiangsu Province Hospital of Chinese Medicine, Affiliated Hospital of Nanjing University of Chinese Medicine, Nanjing, China;Department of Oncology, Nanjing Jinling Hospital, Nanjing, China;Department of Oncology, Nanjing Tongren Hospital, Nanjing, China;The Comprehensive Cancer Centre, Nanjing Drum Tower Hospital, Medical School of Nanjing University, Nanjing, China;

关键词: familial adenomatous polyposis (FAP);    adenomatous polyposis coli (APC) gene;    breast cancer susceptibility (BRCA) gene;    double germline mutations;    next generation sequencing (NGS);   

DOI  :  10.3389/fonc.2021.658389

来源: DOAJ

【 摘 要 】

Deleterious mutations in APC gene cause the autosomal dominant familial adenomatous polyposis (FAP) which is typically characterized by the occurrence of hundreds to thousands of colorectal adenomas that eventually lead to colorectal cancers (CRCs). BRCA1/2 are the two major susceptibility genes for breast and ovarian cancers. Here, we reported a coinheritance of mutations in APC and BRCA1 genes in a 20-year-old CRC patient with typical clinical features for FAP. Multiple relatives in the family of the patient were affected by colorectal and other cancers. Next-generation sequencing analysis using a panel consisting of 53 hereditary cancer related genes revealed a maternally inherited APC (exon15cn_del) mutation and a paternally inherited BRAC1 (p.lle1824AspfsX3) mutation. This is the first coexistence of APC and BRCA1 mutations in a CRC patient with the mutation inheritance pattern comprehensively characterized in the family. The patient underwent a colonoscopy and a subtotal colectomy and was subsequently diagnosed with colonic adenocarcinomas accompanied with hundreds of tubulovillous adenomas. The case reveals the scenario where two disease-causing mutations of different hereditary tumor syndromes coexist, and illustrates the importance of evaluating detailed family history and performing a multiple-gene panel test in patients with hereditary cancer.

【 授权许可】

Unknown