Table 1 Genes and associated cancer phenotypes.
From: Assessment of pathogenic variation in gynecologic cancer genes in a national cohort
Genes | Transcript | Gene MIM number | Phenotype and gynecologic cancer susceptibility | Disorder MIM number |
|---|---|---|---|---|
ATM | NM_000051.4 | 607585 | Breast cancer susceptibility | 114480 |
BARD1 | NM_000465.4 | 601593 | Breast cancer susceptibility | 114480 |
BRCA1 | NM_007294.4 | 113705 | Hereditary breast and ovarian cancer | 604370 |
BRCA2 | NM_000059.4 | 600185 | Hereditary breast and ovarian cancer | 612555 |
BRIP1 | NM_032043.3 | 605882 | Breast and ovarian cancer susceptibility | 114480 |
CDH1 | NM_004360.5 | 192090 | Breast cancer susceptibility | 114480 |
CHEK2 | NM_007194.4 | 604373 | Breast cancer susceptibility | 114480 |
MLH1 | NM_000249.4 | 120436 | Lynch syndrome (Endometrial and ovarian cancer susceptibility) | 609310 |
MSH2 | NM_000251.3 | 609309 | Lynch syndrome (Endometrial and ovarian cancer susceptibility) | 120435 |
MSH6 | NM_000179.3 | 600678 | Lynch syndrome (Endometrial and ovarian cancer susceptibility) | 614350 |
PALB2 | NM_024675.4 | 610355 | Breast cancer susceptibility | 114480 |
PMS2 | NM_000535.7 | 600259 | Lynch syndrome (Endometrial and ovarian cancer susceptibility) | 614337 |
PTEN | NM_001304717.5 | 601728 | Cowden syndrome (Breast and endometrial cancer susceptibility) | 158350 |
RAD51C | NM_058216.3 | 602774 | Breast and ovarian cancer susceptibility | 613399 |
RAD51D | NM_002878.4 | 602954 | Breast and ovarian cancer susceptibility | 614291 |
STK11 | NM_000455.5 | 602216 | Peutz-Jeghers syndrome (Breast, ovarian, and endometrial cancer susceptibility) | 175200 |
TP53 | NM_000546.5 | 191170 | Li-Fraumeni syndrome (Breast cancer susceptibility) | 151623 |
