Table 3.
Multiplex gene panels currently available for breast cancer risk analysis
| Gene panel (Institution) | High-penetrance breast genes | Moderate-penetrance breast genes | Additional genes |
|---|---|---|---|
| BROCA [76] (University of Washington, Seattle, WA, USA) | BRCA1, BRCA2, CDH1, PTEN, STK11, TP53 | ATM, BRIP1, CHEK2, PALB2 | AKT1, APC, ATR, BABAM1, BAP1, BARD1, BMPR1A, CDK4, CDKN2A, CHEK1, CTNNA1, EPCAM, FAM175A, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, PIK3CA, PMS2, POLD1, POLE, PRSS1, RAD50, RAD51, RAD51C, RAD51D, RET, SDHB, SDHC, SDHD, SMAD4, TP53BP1, VHL, XRCC2 |
| ColoSeq [77] (University of Washington) | CDH1, PTEN, STK11, TP53 | AKT1, APC, BMPR1A, EPCAM, GALNT12, GREM1, MLH1, MSH2, MSH6, MSH6, MUTYH, PIK3CA, POLD1, POLE, PMS2, SMAD4 | |
| BreastNext [78] (Ambry Genetics, Aliso Viejo, CA, USA) | BRCA1, BRCA2, CDH1, PTEN, STK11, TP53 | ATM, BRIP1, CHEK2, PALB2 | BARD1, MRE11A, MUTYH, NBN, NF1, RAD50, RAD51C, RAD51D |
| OvaNext [78] (Ambry Genetics) | BRCA1, BRCA2, CDH1, PTEN, STK11, TP53 | ATM, BRIP1, CHEK2, PALB2 | BARD1, EPCAM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PMS2, RAD50, RAD51C, RAD51D |
| CancerNext [78] (Ambry Genetics) | BRCA1, BRCA2, CDH1, PTEN, STK11, TP53 | ATM, BRIP1, CHEK2, PALB2 | APC, BARD1, BMPR1A, CDK4, CDKN2A, EPCAM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, PMS2, RAD50, RAD51C, RAD51D, SMAD4 |
| Breast Cancer High-Risk Panel [79] (GeneDx, Gaithersburg, MD, USA) | BRCA1, BRCA2, CDH1, PTEN, STK11, TP53 | ||
| Breast/Ovarian Cancer Panel [79] (GeneDx) | BRCA1, BRCA2, CDH1, PTEN, STK11, TP53 | ATM, BRIP1, CHEK2, PALB2 | BARD1, BLM, EPCAM, FAM175A, FANCC, HOXB13, MLH1, MRE11A, MSH2, MSH6, NBN, PMS2, RAD50, RAD51C, RAD51D, XRCC2 |
| Comprehensive Cancer Panel [79] (GeneDx) | BRCA1, BRCA2, CDH1, PTEN, STK11, TP53 | ATM, BRIP1, CHEK2, PALB2 | APC, AXIN2, BARD1, BMPR1A, BLM, CDK4, CDKN2A, EPCAM, FAM175A, FANCC, HOXB13, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, PALLD, PMS2, RAD50, RAD51C, RAD51D, SMAD4, VHL, XRCC2 |
| Hereditary High-Risk Breast Cancer Panel [80] (Baylor College of Medicine, Houston, TX, USA) | BRCA1, BRCA2, CDH1, PTEN, STK11, TP53 | PALB2 | |
| Hereditary Breast/Ovarian Cancer Panel [81] (Baylor College of Medicine) | BRCA1, BRCA2, CDH1, PTEN, STK11, TP53 | ATM, BRIP1, CHEK2, PALB2 | EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PMS1, PMS2, RAD51C, RAD51D |
| Comprehensive Hereditary Cancer Panel [82] (Baylor College of Medicine) | BRCA1, BRCA2, CDH1, PTEN, STK11, TP53 | ATM, BRIP1, CHEK2, PALB2 | ALK, APC, BMPR1A, CDC73, CDKN1C, CDKN2A, EPCAM, FH, FLCN, GPC3, MAX, MEN1, MET, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NF2, PHOX2B, PMS1, PMS2, PRKAR1A, PTCH1, RAD51C, RAD51D, RET, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SUFU, TMEM127, VHL, WT1 |
| Breast Cancer Susceptibility [83] (City of Hope, Duarte, CA, USA) | CDH1, PTEN, STK11, TP53 | ATM, CHEK2, PALB2 | |
| Hereditary Breast and Ovarian Cancer [84] (Sistemas Genómicos, Paterna, Spain) | BRCA1, BRCA2, CDH1, PTEN, STK11, TP53 | ATM, BRIP1, PALB2 | ERCC4, RAD51C, RAD51D, XRCC2 |
| CAN02: Breast and Ovarian Cancer [85] (Center for Genomics and Transcriptomics, Tuebingen, Germany) | BRCA1, BRCA2, CDH1, PTEN, STK11, TP53 | ATM, BRIP1, CHEK2, PALB2 | BARD1, EPCAM, FAM175A, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, MEN1, MLH1, MRE11A, MSH2, MSH3, MSH6, NBN, PMS1, PMS2, PTCH1, RAD50, RAD51C, RAD51D, SLX4, UIMC1, XRCC2 |