Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 28471
Gene Symbol: IGHV1-12
IGHV1-12
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker BEFREE The tumor is thought to be histogenetically less associated with HPV infection, and its teratomatous components with an absence of cytogenetic abnormalities (including isochromosome 12p (i(12p)) suggest a analogous histogenesis compared to pure mature or immature teratoma. 31684979

2019

Entrez Id: 28471
Gene Symbol: IGHV1-12
IGHV1-12
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker BEFREE A virtually universal chromosomal anomaly in GCTs is increase in 12p copy number, often in the form of isochromosome 12p [i(12p)], but this aspect of sarcomatoid YSTs has not hitherto been studied. 31478941

2019

Entrez Id: 28471
Gene Symbol: IGHV1-12
IGHV1-12
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker BEFREE The absence of cytogenetic abnormalities (including isochromosome 12p (i(12p)) in mature ovarian teratomas suggests that they may be analogous to prepubertal testicular teratomas, but there are no data regarding genetic changes in the teratomatous components of ovarian mixed GCTs. 16547466

2006

Entrez Id: 28471
Gene Symbol: IGHV1-12
IGHV1-12
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker BEFREE The characteristic chromosome abnormality associated with PKS is i(12p), which is seen predominantly in skin fibroblast cultures. 14641998

2003

Entrez Id: 28471
Gene Symbol: IGHV1-12
IGHV1-12
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker BEFREE The amplification of the short arm of the chromosome 12, especially as the i(12p) marker chromosome, has been found to be a highly nonrandom chromosome abnormality associated with testicular germ cell tumors (TGCT). 12034520

2002

Entrez Id: 28471
Gene Symbol: IGHV1-12
IGHV1-12
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker BEFREE Most adult testicular germ cell tumors have a characteristic chromosomal abnormality that is an isochromosome 12p [i(12p)]. 12072204

2002

Entrez Id: 28471
Gene Symbol: IGHV1-12
IGHV1-12
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker BEFREE No losses were found on 12q and 17p despite the fact that the most common cytogenetic abnormality in TGCTs is an i(12p) and that the TP53 gene on 17p is the most frequently mutated gene in human cancers. 7547632

1995

Entrez Id: 28471
Gene Symbol: IGHV1-12
IGHV1-12
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker BEFREE We confirmed that an isochromosome for 12p, i(12p), is the only consistent structural chromosomal abnormality in TGCT, present in about 70% of our cases. 8527395

1995

Entrez Id: 28471
Gene Symbol: IGHV1-12
IGHV1-12
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker BEFREE i(12p) is a highly nonrandom chromosomal marker seen in about 80% of male germ cell tumors with evaluable cytogenetic abnormalities. 8308927

1994

Entrez Id: 28471
Gene Symbol: IGHV1-12
IGHV1-12
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker BEFREE Although recent cytogenetic analyses of GCTs have defined nonrandom chromosome abnormalities in these tumors, no attempt has so far been made to compare i(12p)-positive and -negative tumors in terms of their cytogenetic, histologic, and clinical features. 7512366

1993

Entrez Id: 28471
Gene Symbol: IGHV1-12
IGHV1-12
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker BEFREE In the remaining so-called i(12p)-negative tumours other cytogenetic abnormalities can be found. 8097468

1993

Entrez Id: 28471
Gene Symbol: IGHV1-12
IGHV1-12
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker BEFREE The i(12p) marker chromosome has been found to be a highly nonrandom chromosome abnormality associated with germ cell tumors (GCTs). 1384658

1992

Entrez Id: 28471
Gene Symbol: IGHV1-12
IGHV1-12
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker BEFREE Cytogenetic analysis of germ cell tumors (GCTs) has identified i(12p) as a specific cytogenetic abnormality identified in more than 80% of GCTs, present in all histologies, in primary and metastatic lesions, in testicular and extragonadal presentations, and in ovarian and sex cord stromal tumors. 1663944

1991

Entrez Id: 28471
Gene Symbol: IGHV1-12
IGHV1-12
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker BEFREE Thus, our study extends to cell lines the observation from fresh tumor tissues that i(12p) is a highly nonrandom chromosomal abnormality of testicular GCT. 2253191

1990

Entrez Id: 28471
Gene Symbol: IGHV1-12
IGHV1-12
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker BEFREE The only structural chromosomal abnormality in common was an i(12p). 2846145

1988

Entrez Id: 28471
Gene Symbol: IGHV1-12
IGHV1-12
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker BEFREE This finding confirms the reports that the i(12p) isochromosome is a specific chromosomal abnormality in cases of malignant testicular tumors. 6708198

1984