CGN DNA Bank Summary February 16, 2010 Summary The Cancer Genetics Network (CGN) DNA Bank was initiated in 2007 to collect DNA samples from CGN registrants with multiple primary and early-onset cancer diagnoses. This population was selected because subjects with a history of multiple primaries and early-onset cancers are more likely to have genetic susceptibility to cancer. In 2009, the DNA Bank was expanded to include registrants with rare cancer diagnoses. Procedures Subjects from the CGN were consented for the CGN Bank following confirmation of their eligibility by one of 13 CGN clinical centers. Blood or saliva samples were then collected either in clinic or remotely. These samples were shipped fresh to the Partners Center for Personalized Genetic Medicine (PCPGM) where DNA was extracted, frozen, and stored. DNA Summary DNA has been extracted and stored for 748 subjects. For 715 subjects, DNA is stored in 2 or more aliquots; 33 subjects have only 1 aliquot. The mean quantity of DNA stored per patient is 333 ug (standard deviation: 309 ug). Total quantities per patient range from 1.1 ug to 4656 ug (median: 261 ug). DNA purity is calculated as the ratio of light absorption at 260 nm and 280 nm. This provides an estimate of protein contamination of the DNA. Standard purity is 1.8. The CGN DNA bank samples have a mean purity of 1.8 (standard deviation: 0.2). Purity ranges from 0.6 to 5.8 (10th percentile: 1.7). Table 1. Summary of Enrollment by Eligibility Category (Data available for 639 subjects) Category N 1. Multiple Early Onset Cancers & Family History of Same 7 2. Multiple Early Onset Cancer & Family History of Early Onset 20 3. Early Onset Cancer & Family History of Multiple Early Onset Cancers 25 4. Early Onset Cancer & Family History of Same 79 5. Primary Cancer & Family History of Same Type 83 6. Multiple Early Onset Cancers & No Family History 49 7. Early Onset Cancer & No Family History 230 8. Rare Cancer* 156 Other 5 * Note that subjects with rare cancers may also be listed in one of categories 1 – 7. Table 2. Summary of Rare Cancers Type Bladder Bone Brain Dermatofibrosarcoma Eccrine tumor of breast Esophagus Head/Neck Kidney Leiomyosarcoma Malt lymphoma Melanoma Myxoid liposarcoma Pancreas Papillary adrenal carcinoma Placenta Salivary gland Scrotum Sebaceous carcinoma Soft tissue Stomach Thymus Thyroid Vulva TOTAL ** Data missing for 8 subjects N 1 1 4 1 1 4 1 21 2 1 26 1 48 1 1 1 1 1 2 1 1 26 1 148** Table 3. Cancer Types by Eligibility Category The following table gives frequencies of cancer types for each eligibility category (see Table 1). Note that only cancer diagnoses in the enrollee are reported for categories 1-4 and 6-7. Participants are counted for as many cancer types as s/he has. In category 5 (Primary Cancer & Family History of Same Type), frequencies of the cancer common between enrollee and family members are given. Cancer Type Anus Biliary Tract Bladder Bone Brain Breast Cervix Colon Endocrine Female Genital Gastrointestinal Head Hematologic Intestine Kidney Lip Lung Lymph Melanoma Mouth Ovary Pancreas Prostate Rectum Respiratory Tract Skin (non-melanoma) Soft Tissue Testes Uterus Unknown 1 Eligibility Categories 3 4 5 1 2 6 7 2 1 5 1 1 1 12 1 6 2 1 25 1 1 1 66 6 7 2 1 8 1 2 1 1 2 46 4 4 6 2 173 12 21 10 1 1 1 4 1 1 1 3 1 3 8 5 1 2 2 1 3 1 1 1 16 4 30 1 6 19 2 3 2 3 1 7 8 6 1 3 1 1 1 8 1 12 2 1 1 1 4 1 3 6 9 2 2 2 2 1 26 1 18 2 4 10 19 1 2 5 1 Total 1 2 3 2 5 335 25 41 21 2 1 1 6 1 21 1 22 15 88 3 44 2 10 10 1 51 1 4 18 4