Tissue | Expression Dynamics | Abbreviation |
Cervix | | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
Colorectum (GSE201348) | | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Endometrium | | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
GC | | CAG: Chronic atrophic gastritis |
CAG with IM: Chronic atrophic gastritis with intestinal metaplasia |
CSG: Chronic superficial gastritis |
GC: Gastric cancer |
SIM: Severe intestinal metaplasia |
WIM: Wild intestinal metaplasia |
Lung | | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
Oral Cavity | | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Prostate | | BPH: Benign Prostatic Hyperplasia |
Skin | | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
Thyroid | | ATC: Anaplastic thyroid cancer |
HT: Hashimoto's thyroiditis |
PTC: Papillary thyroid cancer |
Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
LRBA | SNV | Missense_Mutation | novel | c.7996N>G | p.Leu2666Val | p.L2666V | P50851 | protein_coding | tolerated(0.68) | possibly_damaging(0.688) | TCGA-3C-AALI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Poly E | Complete Response |
LRBA | SNV | Missense_Mutation | rs762914566 | c.1756G>T | p.Val586Phe | p.V586F | P50851 | protein_coding | deleterious(0) | probably_damaging(0.96) | TCGA-A1-A0SD-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
LRBA | SNV | Missense_Mutation | | c.8009N>G | p.Tyr2670Cys | p.Y2670C | P50851 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-A2-A0CV-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
LRBA | SNV | Missense_Mutation | | c.1432N>G | p.Pro478Ala | p.P478A | P50851 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-A2-A0SW-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | arimidex | PD |
LRBA | SNV | Missense_Mutation | rs760789351 | c.9N>A | p.Ser3Arg | p.S3R | P50851 | protein_coding | deleterious_low_confidence(0) | benign(0.007) | TCGA-A2-A25F-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | taxotere | SD |
LRBA | SNV | Missense_Mutation | novel | c.5655N>G | p.Ser1885Arg | p.S1885R | P50851 | protein_coding | deleterious(0.01) | probably_damaging(0.999) | TCGA-A2-A3Y0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |
LRBA | SNV | Missense_Mutation | | c.7958G>C | p.Gly2653Ala | p.G2653A | P50851 | protein_coding | tolerated(0.11) | probably_damaging(0.975) | TCGA-A7-A13G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | PD |
LRBA | SNV | Missense_Mutation | novel | c.4110N>T | p.Met1370Ile | p.M1370I | P50851 | protein_coding | tolerated(0.92) | benign(0.041) | TCGA-A8-A06P-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unspecific | | SD |
LRBA | SNV | Missense_Mutation | | c.1385N>G | p.Ser462Cys | p.S462C | P50851 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-A8-A08R-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
LRBA | SNV | Missense_Mutation | rs754600521 | c.6697N>A | p.Ala2233Thr | p.A2233T | P50851 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-A8-A09E-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | anastrozole | SD |