From: Hereditary oral squamous cell carcinoma associated with CDKN2A germline mutation: a case report
Type of cancer | References | Comments |
---|---|---|
Breast adenocarcinoma | [29] | Standardized morbidity rate of 3.8 (P = 0.0014) |
 | [30] | Case report |
 | [31] | One pedigree described. Breast cancer in 5 members |
 | [32] | 2 cases series of breast cancer |
 | [34] | One pedigree described. Breast cancer in 1 member |
 | [4] | Large registry study. Prevalence rate was 3.044 compared to CDKN2A wild type (P < 0.001) |
 | [33] | One pedigree described. Breast cancer in proband |
Lung cancer | [33] | One pedigree described. Lung cancer in 3 members |
 | [4] | Large registry study. Prevalence rate was 2.19 compared to CDKN2A wild type (P < 0.018) |
 | [35] | Eight pedigrees described. Lung cancer in 6 members |
Sarcoma | [37] | Eight cases of sarcoma identified in melanoma -prone French families with CDKN2A germline mutation |
 | [35] | Eight pedigrees described. Sarcoma in 5 members |
 | [36] | 744 pediatric patients were screened for germline mutations: 1 patient with osteosarcoma found to have CDKN2A germline mutation |
Neurofibroma | [39] | Case report |
 | [22] | In one pedigree, 7 members had neural system tumors including astrocytoma, neurofibroma, schwanomma, and meningioma |
 | [38] | One pedigree described. Neurofibroma in 4 members |
 | [31] | One pedigree described. Neurofibroma in 3 members |
 | [34] | One pedigree described. Neurofibroma in proband |
 | [40] | One pedigree described. Neurofibroma in 3 members |