DO: 2394;
Cytogenetic location: 3p25-p22 Genomic coordinates (GRCh38): 3:8,100,001-43,600,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 3p25-p22 | {Ovarian cancer, susceptibility to} | 607893 | 2 |
For a general discussion of ovarian cancer, see 167000.
Sekine et al. (2001) performed genomewide linkage analysis in 58 Japanese patients and 9 unaffected members among 28 familial ovarian cancer families with no mutation in BRCA1 (113705) or BRCA2 (600185). Mean age at diagnosis was 49.7 years. Chromosome 3p25-p22 showed a suggestive score for linkage (lod = 3.49 and NPL = 2.77 at D3S3611) based on a multipoint analysis. Additionally, based on a 2-point analysis using dense markers, this 3p25-p22 region showed a P value of less than 0.05 at 10 markers and suggestive evidence for linkage at 2 markers within 19 cM (NPL = 2.60 and 2.49 at D3S1597 and D3S3611, respectively). The frequency of loss of heterozygosity at 4 markers in this region was greater than 50% only in tumor tissues from patients with no mutation in BRCA1 or BRCA2, not in those with a BRCA1 mutation. The authors proposed that a novel tumor suppressor gene may be located in this region of chromosome 3.
Sekine, M., Nagata, H., Tsuji, S., Hirai, Y., Fujimoto, S., Hatae, M., Kobayashi, I., Fujii, T., Nagata, I., Ushijima, K., Obata, K., Suzuki, M., Yoshinaga, M., Umesaki, N., Satoh, S., Enomoto, T., Motoyama, S., Tanaka, K., The Japanese Familial Ovarian Cancer Study Group. Localization of a novel susceptibility gene for familial ovarian cancer to chromosome 3p22-p25. Hum. Molec. Genet. 10: 1421-1429, 2001. [PubMed: 11440995] [Full Text: https://doi.org/10.1093/hmg/10.13.1421]