| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
55 YR |
| Sex |
Female |
| Age of Onset(If not a control) |
48 YR |
| Age at Diagnosis(If not a control) |
48 YR |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
USA |
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| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
HEREDITARY CANCER TEST (30 GENES) UTILIZING CLINICAL GENOMIC SEQUENCING OF SALIVA DNA REVEALED A HETEROZYGOUS, LIKELY PATHOGENIC VARIANT IN CHEK2: C.190G>A (P.GLU64LYS) |
| Zygosity: |
Heterozygous |
| Other variants: |
BREAST CANCER ASSAY RT-PCR WITH A RECURRENT SCORE RANGE FROM 0-100 WAS USED DETERMINED A BREAST CANCER RECURRENCE SCORE OF 13 (PATIENTS WITH A RECURRENCE SCORE OF 13 HAVE AN AVERAGE RATE OF RECURRENCE OF 9% BASED ON A CLINICAL VALIDATION STUDY |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
48 YEARS |
| Age at Diagnosis: |
48 YEARS; DIAGNOSED BY A RADIOLOGIST |
| In Utero History Information |
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| Birth History Information |
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| Dysmorphic Features |
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| Additional Information: |
DIMPLING AND PALPABLE MASS IN LEFT BREAST; SURGICAL PATHOLOGY RESULTS: INVASIVE BREAST CARCINOMA; LEFT TOTAL MASTECTOMY; INVASIVE DUCTAL CARCINOMA (2.3 X 2.0 X 1.2 CM); PRIMARY TUMOR >20MM BUT < OR = 50MM; FIBROCYSTIC CHANGES, FIBROADENOMATOUS CHANGES, AND ADENOSIS WITH ASSOCIATED MICROCALCIFICATION; PREVIOUS BIOPSY SITE CHANGES; PREVIOUS BREAST CANCER |
| Neurological Symptoms |
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| Optical and Audiological Symptoms |
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| Musculoskeletal Symptoms |
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| Developmental Milestones |
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| Gastrointestinal Symptoms |
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| Genitourinary Symptoms |
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| Respiratory and Cardiovascular Symptoms |
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| Cognitive and Behavioral Symptoms |
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| Additional Information |
| Testing Performed |
| Uncategorized Testing: |
IN SITU HYBRIDIZATION REPORT: NEEDLE CORE BIOPSIES OF THE LEFT BREAST REVEALED INVASIVE CARCINOMA; ER+, PR+, HER2-; IMMUNOSTAINS FOR ESTROGEN AND PROGESTERONE RECEPTORS WERE BOTH POSITIVE; THE KI-67 PROLIFERATIVE FRACTION WAS INTERMEDIATE (15.6% POSITIVE); HER2 IMMUNOSTAIN WAS EQUIVOCAL WITH A SCORE OF 2+; FISH RESULTS FOR INVASIVE NEOPLASTIC CELLS SHOWED A NEGATIVE HER2 GENE STATUS AND LOSS OF CHROMOSOME 17 (CHROMOSOME 17 MONOSOMY) |
| Treatments and Assistive Devices |
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| Additional Testing: |
SURGERIES: LEFT MASTECTOMY AND DIEP RECONSTRUCTION |
| Medications |
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TAMOXIFEN |
| Family History |
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FAMILY HISTORY OF CANCER; FATHER HAD LARYNGEAL CANCER; TWO PATERNAL AUNTS HAD BREAST CANCER; ONE PATERNAL UNCLE HAD COLON AND KIDNEY CANCER; ONE PATERNAL AUNT HAD COLON CANCER; TWO PATERNAL GREAT AUNTS HAD BREAST CANCER; PATERNAL GREAT UNCLES HAD VARIOUS CANCERS; PATERNAL FIRST COUSINS HAVE HAD KIDNEY, PROSTATE, PANCREATIC, CHOLANGIOCARCINOMA, AND LYMPHOMA |
| Remarks |
See Phenotypic Data tab. Same donor as GM27948 (fibro) and GM27953 (lymph); see Family Number 3551. Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is Sendai-CytoTune. |