| About this overview [Show] |
| This detailed view shows all details of the selected patient, including all variants reported in this patient. At the bottom of the page, all variants reported in this patient are listed, with the one you are looking at in bold. The link to the UCSC Genome Browser will show the browser zoomed in to the location of the selected variant. |
| Patient data (#0000628) |
| Disease |
Ovarian cancer |
| Reference |
Schildkraut et al., 2010, Peikuan Cong |
| Remarks |
Ovarian cancer is the leading cause of mortality among gynecologic cancers. The highly lethal serous histological type comprises about two-thirds of cases and causes most disease- related deaths. |
| # Reported |
1 |
| Mut. origin |
- |
| Gender |
Female |
| Occurrence |
- |
| De novo origin |
- |
| Geographic origin |
USA |
| Ethnic origin |
white, non-Hispanic |
| Population |
- |
| Submitter |
Peikuan Cong |
| Variant data |
| Allele |
Unknown |
| Reported pathogenicity |
Probably pathogenic |
| Concluded pathogenicity |
Unknown |
| Exon |
13 |
| DNA change |
c.1461+1887A>G (View in UCSC Genome Browser, Ensembl) |
| DNA published |
rs5762746 |
| RNA change |
- |
| Protein |
- |
| Re-site |
- |
| Frequency |
- |
| Patients |
364 |
| Controls |
761 |
| DB-ID |
CHEK2_00052 |
| Type |
Substitution |
| Location |
Intron |
| Template |
DNA |
| Technique |
SEQ |
| Tissue |
Blood |
| Variant remarks |
SNPs from multiple genes related to DNA damage repair provide complementary information for characterizing ovarian cancer risk. |
| Reference |
- |
|
|
