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PGP Participant Survey
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Responses submitted 7/16/2011 16:17:09.
Show responses
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| Timestamp |
7/16/2011 16:17:09 |
| Year of birth |
70-79 years |
| Which statement best describes you? |
I am comfortable making my genome sequence data publicly available without prior review. |
| Severe disease or rare genetic trait |
Yes |
| Do you have a severe genetic disease or rare genetic trait? If so, you can add a description for your public profile. |
Severe-Squamous cell cancer (SCC) x9 (skin), after Stevens Johnson Syndrome (SJS), right groin hematoma became SCC. Surgeon believes SSC from SJS with 2 surgeries, chemo and radiation, and if so could be Muir Torre or Lynch Syndrome and both are genetic. My mother (jaw-mandible, tongue) and her sister (pelvic) both had SCC. Age 78 acquired for me.
Congenital trait-I was born with 6 fingers, my sister, 6 fingers and 6 toes (deceased) and my younger brother 3 nipples (deceased). I also have 1 extra cervical rib.
Congenital- father-severe scoliosis- I have mod. cervical 5-6, lumbar 4-5, 2 of my children have mild. I have one niece who has one child has scoliosis and had rod placement several years ago. |
| Disease/trait: Onset |
Congenital / present at birth |
| Disease/trait: Rarity |
Very rare/uncommon |
| Disease/trait: Severity |
Very severe disease |
| Disease/trait: Relative enrollment |
No |
| Disease/trait: Diagnosis |
Yes |
| Disease/trait: Genetic confirmation |
No |
| Disease/trait: Documentation |
Yes |
| Disease/trait: Documentation description |
Diagnosis-Stevens Johnson Syndrome 10/2009 following severe drug reaction to Septra DS, with 2 hospitalizations, several PET scans and ultrasound showing hematoma right groin 2008, 11/09 DVT and right groin adenopathy, surgery 3/10 right groin SCC, 4/10 neg. Pap, 8/10, small Basal Cell Cancer removed from right scapula (pustule from SJS Hx) 7/10, another right groin SCC, 8/10 VAIN 3, 12/10, negative PET scan, 6/11-neg Pap. |
| Sex/Gender |
Female |
| Race/ethnicity |
White |
| Maternal grandmother: Country of origin |
United States |
| Paternal grandmother: Country of origin |
United States |
| Paternal grandfather: Country of origin |
United States |
| Maternal grandfather: Country of origin |
United States |
| Enrollment of relatives |
No |
| Enrollment of older individuals |
Yes |
| Enrollment of parents |
No |
| Have you uploaded genetic data to your PGP participant profile? |
Yes, I have uploaded genetic data |
| Have you used the PGP web interface to record a designated proxy? |
Yes |
| Have you uploaded health record data using our Google Health or Microsoft Healthvault interfaces? |
Yes |
| Uploaded health records: Update status |
Yes |
| Uploaded health records: Extensiveness |
5 |
| Blood sample |
Yes |
| Saliva sample |
Yes |
| Microbiome samples |
Yes |
| Tissue samples from surgery |
Yes |
| Tissue samples from autopsy |
Yes |
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PGP Participant Survey
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Responses submitted 8/10/2012 16:33:48.
Show responses
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| Timestamp |
8/10/2012 16:33:48 |
| Year of birth |
80-89 years |
| Which statement best describes you? |
I am comfortable making my genome sequence data publicly available without prior review. |
| Severe disease or rare genetic trait |
Yes |
| Do you have a severe genetic disease or rare genetic trait? If so, you can add a description for your public profile. |
Hospitalized for Stevens Johnson Syndrome 11/09, followed by DVT and hospitalization 12/09.
Subsequently developed squamous cell cancer , with two surgeries right groin cancer. A pathologist did sample of cancerous specimen and Genzyme report showedEMA Epithelial Membrane Antigen (E-29)
GCDFP-15 Gross Cystic Disease Fluid Protein 15, Breast, Salivary Gland
S100 S100 Protein, Nerve Sheath Tumor, Melanoma, Chondrocyte
TTF-1 Thyroid Transcription-1 Lung and thyroid Carcinoma
P63 (Pab 1801) Mutated Tumor Suppressor Gene (PAb1801)
Subsequent Cisplatin and full pelvic radiation-developed Cisplatin toxicity and radiation internal and external burns. Questions remain-inherited bullous disease or ? |
| Disease/trait: Onset |
After 60 years of age |
| Disease/trait: Rarity |
Very rare/uncommon |
| Disease/trait: Severity |
Very severe disease |
| Disease/trait: Relative enrollment |
No |
| Disease/trait: Diagnosis |
Yes |
| Disease/trait: Genetic confirmation |
No |
| Disease/trait: Documentation |
Yes |
| Disease/trait: Documentation description |
Hospitalization records, radiology, Genzyme report, pathology reports |
| Sex/Gender |
Female |
| Race/ethnicity |
White |
| Maternal grandmother: Country of origin |
United States |
| Paternal grandmother: Country of origin |
United States |
| Paternal grandfather: Country of origin |
United States |
| Maternal grandfather: Country of origin |
United States |
| Enrollment of relatives |
No |
| Enrollment of older individuals |
No |
| Enrollment of parents |
No |
| Have you uploaded genetic data to your PGP participant profile? |
Yes, I have uploaded genetic data |
| Have you used the PGP web interface to record a designated proxy? |
Yes |
| Have you uploaded health record data using our Google Health or Microsoft Healthvault interfaces? |
Yes |
| Uploaded health records: Update status |
Yes |
| Uploaded health records: Extensiveness |
5 |
| Blood sample |
Yes |
| Saliva sample |
Yes |
| Microbiome samples |
Yes |
| Tissue samples from surgery |
Yes |
| Tissue samples from autopsy |
Yes |
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PGP Participant Survey
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Responses submitted 10/12/2012 16:43:40.
Show responses
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| Timestamp |
10/12/2012 16:43:40 |
| Year of birth |
80-89 years |
| Which statement best describes you? |
I am comfortable making my genome sequence data publicly available without prior review. |
| Severe disease or rare genetic trait |
Yes |
| Do you have a severe genetic disease or rare genetic trait? If so, you can add a description for your public profile. |
I have had many severe adverse reactions to Rx and supplements including, Stevens Johnson Syndrome, DVT, 12 squamous cell skin cancers, 1 basal cell skin cancer, 2 right groin squamous cell cancers.
Also genetic CAD but with PAD. |
| Disease/trait: Onset |
40-49 years of age |
| Disease/trait: Rarity |
Very rare/uncommon |
| Disease/trait: Severity |
Very severe disease |
| Disease/trait: Relative enrollment |
Maybe |
| Disease/trait: Diagnosis |
Yes |
| Disease/trait: Genetic confirmation |
Yes |
| Disease/trait: Documentation |
Yes |
| Disease/trait: Documentation description |
surgery documents, pathology report from Genzyme, medical records |
| Sex/Gender |
Female |
| Race/ethnicity |
White |
| Maternal grandmother: Country of origin |
United States |
| Paternal grandmother: Country of origin |
United States |
| Paternal grandfather: Country of origin |
United States |
| Maternal grandfather: Country of origin |
United States |
| Enrollment of relatives |
No |
| Enrollment of older individuals |
Yes |
| Enrollment of parents |
No |
| Have you uploaded genetic data to your PGP participant profile? |
Yes, I have uploaded genetic data |
| Have you used the PGP web interface to record a designated proxy? |
Yes |
| Have you uploaded health record data using our Google Health or Microsoft Healthvault interfaces? |
Yes |
| Uploaded health records: Update status |
Yes |
| Uploaded health records: Extensiveness |
4 |
| Blood sample |
Yes |
| Saliva sample |
Yes |
| Microbiome samples |
Yes |
| Tissue samples from surgery |
Yes |
| Tissue samples from autopsy |
Yes |
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PGP Trait & Disease Survey 2012: Cancers
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Responses submitted 10/12/2012 16:45:01.
Show responses
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| Timestamp |
10/12/2012 16:45:01 |
| Have you ever been diagnosed with one of the following conditions? |
Non-melanoma skin cancer, Breast fibroadenoma, Cervical cancer |
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PGP Trait & Disease Survey 2012: Endocrine, Metabolic, Nutritional, and Immunity
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Responses submitted 10/12/2012 16:46:42.
Show responses
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| Timestamp |
10/12/2012 16:46:42 |
| Have you ever been diagnosed with any of the following conditions? |
Thyroid nodule(s), Hypothyroidism, High cholesterol (hypercholesterolemia), Gout |
| Other condition not listed here? |
osteoarthritis |
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PGP Trait & Disease Survey 2012: Blood
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Responses submitted 10/12/2012 16:47:54.
Show responses
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| Timestamp |
10/12/2012 16:47:54 |
| Other condition not listed here? |
Hx DVT after SJS |
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PGP Trait & Disease Survey 2012: Nervous System
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Responses submitted 10/12/2012 16:48:58.
Show responses
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| Timestamp |
10/12/2012 16:48:58 |
| Have you ever been diagnosed with one of the following conditions? |
Trigeminal neuralgia, Carpal tunnel syndrome, Other peripheral neuropathy |
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PGP Trait & Disease Survey 2012: Vision and hearing
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Responses submitted 10/12/2012 16:50:32.
Show responses
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| Timestamp |
10/12/2012 16:50:32 |
| Have you ever been diagnosed with one of the following conditions? |
Age-related cataract, Astigmatism, Dry eye syndrome, Age-related hearing loss, Sensorineural hearing loss or congenital deafness |
| Other condition not listed here? |
Toxic otitis f/Cisplatin |
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PGP Trait & Disease Survey 2012: Circulatory System
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Responses submitted 10/12/2012 16:52:04.
Show responses
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| Timestamp |
10/12/2012 16:52:04 |
| Have you ever been diagnosed with one of the following conditions? |
Deep vein thrombosis (DVT), Varicose veins |
| Other condition not listed here? |
hereditary CAD |
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PGP Trait & Disease Survey 2012: Respiratory System
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Responses submitted 10/12/2012 16:52:39.
Show responses
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| Timestamp |
10/12/2012 16:52:39 |
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PGP Trait & Disease Survey 2012: Digestive System
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Responses submitted 10/12/2012 16:53:42.
Show responses
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| Timestamp |
10/12/2012 16:53:42 |
| Have you ever been diagnosed with any of the following conditions? |
Impacted tooth, Dental cavities, Temporomandibular joint (TMJ) disorder, Diverticulosis, Gallstones |
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PGP Trait & Disease Survey 2012: Genitourinary Systems
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Responses submitted 10/12/2012 16:55:34.
Show responses
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| Timestamp |
10/12/2012 16:55:34 |
| Have you ever been diagnosed with any of the following conditions? |
Kidney stones, Urinary tract infection (UTI), Fibrocystic breast disease, Bartholin's cyst, Uterine prolapse |
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PGP Trait & Disease Survey 2012: Skin and Subcutaneous Tissue
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Responses submitted 10/12/2012 16:56:32.
Show responses
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| Timestamp |
10/12/2012 16:56:32 |
| Have you ever been diagnosed with any of the following conditions? |
Rosacea, Acne, Cafe au lait spots |
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PGP Trait & Disease Survey 2012: Musculoskeletal System and Connective Tissue
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Responses submitted 10/12/2012 16:57:40.
Show responses
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| Timestamp |
10/12/2012 16:57:40 |
| Have you ever been diagnosed with any of the following conditions? |
Rheumatoid arthritis, Osteoarthritis, Spinal stenosis, Sciatica, Frozen shoulder, Rotator cuff tear, Tennis elbow, Bone spurs, Trigger finger, Dupuytren's contracture, Plantar fasciitis, Osteoporosis, Scoliosis |
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PGP Trait & Disease Survey 2012: Congenital Traits and Anomalies
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Responses submitted 10/12/2012 16:58:34.
Show responses
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| Timestamp |
10/12/2012 16:58:34 |
| Have you ever been diagnosed with any of the following conditions? |
Polydactyly |