Number of rare germline CNVs and TP53 mutation types
نویسندگان
چکیده
منابع مشابه
Number of rare germline CNVs and TP53 mutation types
BACKGROUND The Li-Fraumeni syndrome (LFS), an inherited rare cancer predisposition syndrome characterized by a variety of early-onset tumors, is caused by different highly penetrant germline mutations in the TP53 gene; each separate mutation has dissimilar functional and phenotypic effects, which partially clarifies the reported heterogeneity between LFS families. Increases in copy number varia...
متن کاملThe profile and contribution of rare germline copy number variants to cancer risk in Li-Fraumeni patients negative for TP53 mutations
BACKGROUND The Li-Fraumeni syndrome (LFS) is an inherited rare cancer predisposition syndrome characterized by a variety of early-onset tumors. Although germline mutations in the tumor suppressor gene TP53 account for over 50% of the families matching LFS criteria, the lack of TP53 mutation in a significant proportion of LFS families, suggests that other types of inherited alterations must cont...
متن کاملOvarian carcinoma in situ with germline BRCA1 mutation and loss of heterozygosity at BRCA1 and TP53.
BACKGROUND The two-hit hypothesis for the genesis of cancer predicts that cancer can develop when the wild-type allele of a tumor suppressor gene is lost in an individual with a germline mutation in that gene. Neither loss of heterozygosity (LOH) for BRCA1 nor mutations of the TP53 (also known as p53) gene have been documented prior to invasion in ovarian cancers arising in women with germline ...
متن کاملGermline TP53 variants and susceptibility to osteosarcoma.
The etiologic contribution of germline genetic variation to sporadic osteosarcoma is not well understood. Osteosarcoma is a sentinel cancer of Li-Fraumeni syndrome (LFS), in which approximately 70% of families meeting the classic criteria have germline TP53 mutations. We sequenced TP53 exons in 765 osteosarcoma cases. Data were analyzed with χ(2) tests, logistic regression, and Cox proportional...
متن کاملGermline TP53 Mutation and Clinical Characteristics of Korean Patients With Li-Fraumeni Syndrome
BACKGROUND Little is known of the mutation and tumor spectrum of Korean patients with Li-Fraumeni syndrome (LFS). Owing to the rarity of LFS, few cases have been reported in Korea thus far. This study aimed to retrospectively review the mutations and clinical characteristics of Korean patients with LFS. METHODS TP53 mutation was screened in 89 unrelated individuals at the Samsung Medical Cent...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2012
ISSN: 1750-1172
DOI: 10.1186/1750-1172-7-101