Table 2.
Familial disorder | Genetic mutation |
---|---|
Hereditary breast and ovarian cancer syndrome | BRCA1, BRCA2, PALB2, ATM |
Peutz-Jeghers syndrome | STK11/LKB1 |
Hereditary pancreatitis | PRSS1, SPINK1 |
Hereditary nonpolyposis colorectal cancer syndrome (Lynch syndrome) | Mismatch repair genes (HNPCC) |
Familial atypical multiple mole melanoma | p16 (CDKN2A or MTS1) |
Familial adenomatous polyposis | APC |
1q32.1 (NR5A2 or LRH-1) | rs3790844 (A>G), rs10919791 (G>A) |
5p15.33 (CLPTM1/TERT) | rs401681 (C>T) |
6q25.3 (FOXQ1) | rs9502893 (C>T) |
9p34.2 (ABO) | rs505922 (A>G) |
12p11 (BICD1) | rs708224 (A>G) |
13q22.1 (KLF5) | rs9543325 (C>T), rs9564966, (A>G) |