Phenotypic characteristics of colorectal cancer in BRCA1/2 mutation carriers

作者：Grinshpun Albert^*; Halpern Naama; Granit Roy Zvi; Hubert Ayala; Hamburger Tamar; Laitman Yael; Shacham Shmueli Einat; Peerless Yehudit; Friedman Eitan; Peretz Tamar

来源：European Journal of Human Genetics, 2018, 26(3): 382-386.

DOI：10.1038/s41431-017-0067-1

Mutations in the BRCA1/2 genes were recently shown to be associated with an increased risk for colorectal cancer. We characterized the largest cohort available of BRCA1/2 mutation carriers with colorectal cancer. We analyzed 32 patients with lower gastrointestinal cancers and germline BRCA1/2 mutations from two large academic hospital registries; 91% of patients were of Ashkenazi ancestry, 78% were women, and 62.5% were carriers of BRCA1 gene mutations. A high percentage of colorectal tumors (34.5%) had a mucinous histology and were located atypically in the left colon. Two patients had anal cancer with unusual histology and an additional patient had mucinous small bowel carcinoma. Gene expression analysis showed significant correlation between the gene signatures of left mucinous colorectal cancer and basal-like breast cancer. Our results imply that Ashkenazi BRCA1/2 mutation carriers with colorectal cancer might have unique characteristics with a high rate of left-sided, mucinous histology colorectal cancer, and possibly anal carcinoma. This report suggests a phenotypic influence of defects in DNA repair genes on colorectal tumors.

• 出版日期2018-3
• 单位河北医科大学