germline mutations
Research Topic
Language: English
This is a research topic created to provide authors with a place to attach new problem publications.
Research problems linked to this topic
- Germline mutations account for 5-10% of colorectal cancer.
- CNS germ cell tumors (GCT) are rare tumors that arise in midline brain regions (mostly pineal or suprasellar).
- BRCA1 and BRCA2 germline mutations account for the majority of hereditary ovarian cancers and comprise 10% of total cases.
- Germline mutations in the breast cancer susceptibility gene BRCA1 confer an overall lifetime risk of developing breast cancer of up to 80%.
- Mixed germ cell tumors (MGCTs) usually occur in children.
- Constitutional mismatch repair deficiency (CMMRD) is a rare, recessively inherited childhood cancer predisposition syndrome caused by biallelic germline mutations in one of the mismatch repair genes.
- Habitat fragmentation may cause population subdivision, affecting genetic variation, leading to heterozygosity loss and increased inbreeding, and contributing to population extinction.