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Table 3 Reports of selected neoplasms in association with germline CDKN2A mutation

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