Clinical Research Details

Descriptive Information
Looking Into Novel Gene Mutations in Families with Multiple Members with Cancer

Raya Saab


Clinical Research - Mechanisms of Human Disease  

  • Miguel Abboud
  • Hassan El-Solh
  • Samar Muwakkit
  • Rami Mahfouz
Zeina Merabi
Conditions and Keywords
identifying novel gene mutations in families with multiple members with cancer
Familial Cancers,Novel gene mutations
Study Design
N/A: Not Applicable
Eligibility and IRB
Min: 0
Max: 70

 Although the vast majority of cancers occur sporadically, a number of diseases have been identified as familial cancers. The suspicion of dealing with a familial cancer increases when the disease occurs at an unusually young age compared to its typical presentation. The onset of symptoms of familial cancers may be at a young age prompting diagnosis at presentation. Diagnosis can also be made during screening of family members known to be at high risk. Although the effectiveness of screening of family members has not been shown to be of significant value in controlled clinical trials, yet it is reasonable to screen family member in view of the high risk of cancer in such families.        

 Patients 0-21 years of age, who have a strong family history of cancer incidence at a young age and their infected family members.

 We are collecting peripheral blood (about 6 ml) from identified patients and from their family members of interest. We are also collecting paraffing tumor blocks from patients or family members who have undergone surgical tumor resection. DNA will be later extracted from paraffin for genetic analyses.

 Patients 0-21 years of age, who have a strong family history of cancer incidence at a young age, will be eligible.

Family Members who are diagnosed with Cancer are eligible

Healthy siblings and parents of patients are also eligible to act as positive control 

 Patients who do not have a strong family history of cancer