Table 2.
Clinical Characteristics of Patients with Germline RASAL1 Alterations
CCF ID | CC Score | Sex | Clinical Features | RASAL1 | Protein Prediction |
||
---|---|---|---|---|---|---|---|
SIFT | PolyPhen 2 | Condel | |||||
6098 | 15 | F | FTC (age 41 y); goiter; macrocephaly; fibroids; hemangioma | c.982C>T; R328W | Deletrious | Deleterious | Deleterious |
7119 | 4 | F | FTC (age 59 y); breast cancer (lobular + contralateral infiltrating ductal carcinoma at age 62 y); fibroids; benign breast disease | c.982C>T; R328W | Deleterious | Deleterious | Deleterious |