| 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 |
| |
| 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 |
| |
|
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
|
| 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 |
| |
|
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
|
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
|
| 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 |
| |
|
| Additional Testing: |
SURGERIES: LEFT MASTECTOMY AND DIEP RECONSTRUCTION |
| Medications |
| |
TAMOXIFEN |
| Family History |
| |
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 GM28915 (iPSC); see Family Number 3551. |