Recurrent Germline BRCA2 Gene Mutation in Lithuanian Family
نویسندگان
چکیده
منابع مشابه
De novo recurrent germline mutation of the BRCA2 gene in a patient with early onset breast cancer.
Germline mutations in either of the two major breast cancer predisposition genes, BRCA1 and BRCA2, account for a significant proportion of hereditary breast/ovarian cancer. Identification of breast cancer patients carrying mutations of these genes is primarily based on a positive family history of breast/ovarian cancer or early onset of the disease or both. In the course of mutation screening o...
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•The first woman with a Malignant Brenner tumor and a BRCA2 mutation is described.•Not all women with epithelial ovarian cancers are referred for genetic counseling.•Women should be referred for genetics regardless of how rare the histology.
متن کاملRecurrent BRCA1 and BRCA2 germline mutations in ovarian cancer: a founder mutation of BRCA1 identified in the Chinese population.
Previous mutational analysis for BRCA gene mutations in sporadic ovarian cancer occurring in Chinese patients in Hong Kong identified six germline BRCA1 mutations and one germline BRCA2 mutation, six of which were novel (Khoo et al., 2000). Knowledge of BRCA gene mutations in the Chinese population is relatively scant. In this study, we focussed on whether any of these mutations could be recurr...
متن کاملRecurrent germline mutation in MSH2 arises frequently de novo.
INTRODUCTION An intronic germline mutation in the MSH2 gene, A-->T at nt942+3, interferes with the exon 5 donor splicing mechanism leading to a mRNA lacking exon 5. This mutation causes typical hereditary non-polyposis colorectal cancer (HNPCC) and has been observed in numerous probands and families world wide. Recurrent mutations either arise repeatedly de novo or emanate from ancestral foundi...
متن کاملFrequent germline mutation in the BRCA2 gene in esophageal squamous cell carcinoma patients from a low-risk Chinese population.
BACKGROUND The incidence of esophageal squamous cell cancer (ESCC) is strikingly variable by geographic area, which reflect different exposures to risk factors, including genetic predisposition. Previous studies of ESCC patients from several high-risk populations suggested that BRCA2 might play a role in the etiology. This study was conducted to screen for mutations of BRCA2 gene in ESCC cases ...
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ژورنال
عنوان ژورنال: Medicina
سال: 2020
ISSN: 1648-9144
DOI: 10.3390/medicina56030119