11 December 2020: Articles
Novel Pathogenic Germline Variant of the Adenomatous Polyposis Coli (APC) Gene, p.S2627Gfs*12 Identified in a Mild Phenotype of APC-Associated Polyposis: A Case Report
Unusual clinical course
Diane R. Koeller * , Alison Schwartz * , Danielle K. Manning B , Fei Dong B , Neal I. Lindeman D , Judy E. Garber D , Arezou A. Ghazani A*DOI: 10.12659/AJCR.927293
Am J Case Rep 2020; 21:e927293
Table 1. The list of germline genes associated with hereditary cancers tested for the 80- year-old-male patient (Invitae, San Francisco, CA, USA).
| ABRAXAS1 | AKT1 | ALK | APC | ATM | AXIN2 | BAP1 |
| BARD1 | BLM | BMPR1A | BRCA1 | BRCA2 | BRIP1 | BUB1B |
| CASR | CDC73 | CDH1 | CDK4 | CDKN1B | CDKN1C | CDKN2A |
| CEBPA | CEP57 | CHEK2 | CTC1 | CTNNA1 | CTRC | DICER1 |
| DIS3L2 | DKC1 | EGFR | EGLN1 | ENG | EPCAM | ERCC4 |
| EZH2 | FANCA | FANCB | FANCC | FANCD2 | FANCE | FANCF |
| FANCG | FANCI | FANCL | FANCM | FH | FLCN | GALNT12 |
| GATA1 | GATA2 | GPC3 | GREM1 | HOXB13 | HRAS | KIF1B |
| KIT | MAX | MC1R | MDM2 | MEN1 | MET | MITF |
| MLH1 | MLH3 | MRE11 | MSH2 | MSH3 | MSH6 | MUTYH |
| NBN | NF1 | NF2 | NHP2 | NOP10 | NTHL1 | PALB2 |
| PALLD | PDGFRA | PHOX2B | PIK3CA | PMS2 | POLD1 | POLE |
| POT1 | PRKAR1A | PRSS1 | PTCH1 | PTCH2 | PTEN | RAD50 |
| RAD51C | RAD51D | RB1 | RECQL4 | RET | RINT1 | RPL11 |
| RPL26 | RPL35A | RPL5 | RPS10 | RPS19 | RPS20 | RPS24 |
| RPS26 | RPS7 | RUNX1 | SDHA | SDHAF2 | SDHB | SDHC |
| SDHD | SLX4 | SMAD4 | SMARCA4 | SMARCB1 | SMARCE1 | SPINK1 |
| SPRED1 | STK11 | SUFU | TERC | TERT | TINF2 | TMEM127 |
| TP53 | TSC1 | TSC2 | VHL | WRN | WT1 | XRCC2 |