Table 1.
Sequenced Genes and Criteria for Their Inclusion
| Fully Sequenced Genes (n = 42) | Breast Cancer Relative Risk (or other inclusion criterion) | References |
|---|---|---|
| APC | Unknown (causes Familial Adenomatous Polyposis) | Redston et al16 |
| ATM | 1.5-3.8 | Renwick et al17 |
| BLM | 1.2-3.3 | Broberg et al18 |
| BMPR1A | 1.3 | Saetrom et al19 |
| BRCA1 | 4.0-7.0 | Chen et al20 |
| BRCA2 | 4.0-7.0 | Chen et al21 |
| BRIP1 | 1.2-3.2 | Seal et al22 |
| CDH1 | 5.9-7.3 | Kaurah et al,23 Pharoah et al24 |
| CDK4 | Unknown (functions as DNA repair gene) | Dean et al25 |
| CDKN2A | 1.1-1.7 | Debniak et al26 |
| EPCAM | 1.2-1.6 | Jiang et al27 |
| FANCA | 0.9-1.0 | Barroso et al28 |
| FANCB | 0.8-1.2 | Barroso et al28 |
| FANCC | 1.0-1.4 | Barroso et al28 |
| FANCD2 | 1.1-1.7 | Barroso et al28 |
| FANCE | 0.9-1.2 | Barroso et al28 |
| FANCF | 0.9-1.4 | Barroso et al28 |
| FANCG | 0.8-1.0 | Barroso et al28 |
| FANCI | 0.8-1.1 | Barroso et al28 |
| FANCL | 1.0-1.1 | Barroso et al28 |
| LIG4 | 0.4-1.0 | Kuschel et al29 |
| MEN1 | Unknown (causes multiple endocrine neoplasia 1) | Lemmens et al30 |
| MET | Unknown (associated with papillary renal cell carcinoma risk) | Neklason et al31 |
| MLH1 | 0.2-2.0 | Win et al32 |
| MSH2 | 1.2-3.7 | Win et al32 |
| MSH6 | 0-13 | Win et al32 |
| MUTYH | 1.0-3.4 | Rennert et al33 |
| NBN | 1.4-6.6 | Bogdanova et al,34 Seemanová et al,35 Zhang et al36 |
| PALB2 | 1.4-3.9 | Rahman et al37 |
| PALLD | Unknown (associated with pancreatic cancer risk) | Pogue-Geile et al38 |
| PMS2 | Unknown (causes Lynch syndrome) | Win32 |
| PRSS1 | 0.7-1.6 | Wagner et al39 |
| PTCH1 | Unknown (associated with basal cell nevus syndrome and glioblastoma) | Lee et al40 |
| PTEN | 2.0-5.0 | Pilarski et al,41 Tan et al42 |
| RAD51C | 1.5-7.8 | Meindl et al43 |
| RET | Unknown (causes multiple endocrine neoplasia 2) | Machens et al44 |
| SLX4 | 1.0-2.0 | Landwehr et al,45 Shah et al46 |
| SMAD4 | Unknown (mutated in breast tumors) | Tram et al47 |
| SPINK1 | Unknown (mutated in breast tumors) | Soon et al48 |
| STK11 | 2.0-4.0 | Hearle et al,49 Lim et al50 |
| TP53 | 4.3-9.3 | Gonzalez et al51 |
| VHL | Unknown (mutated in breast tumors) | Kong et al52 |