CLINICAL CASE: SYNCHRONOUS MALIGNANCY: LEFT BREAST AND OVARIAN CANCER ASSOCIATED WITH HEREDITARY BRCA1: 5382 INS C - MUTATION
نویسندگان
چکیده
منابع مشابه
BRCA1 Mutation Analysis in 27 Cypriot Families with High Risk of Hereditary Breast and Ovarian Cancer
In the early 1990’s two genes, BRCAl and BRCA2 were discovered that predispose to both breast and ovarian cancers. Although by current estimates only 5–10% of these cancers are hereditary, the identification of susceptibility genes allows the application of oncogenetics as an alternative method of early detection. Indeed several mutations have been identified in these two genes some of which ch...
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Women from site-specific hereditary breast cancer families who carry a BRCA1 or BRCA2 mutation are at increased risk for ovarian cancer. It is less clear, however, whether individuals from hereditary breast cancer families who do not carry such a mutation are also at increased ovarian cancer risk. To determine whether women from BRCA mutation-negative hereditary breast cancer families are at in...
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About 5-10% of breast and ovarian carcinomas are hereditary and most of these result from germline mutations in the BRCA1 and BRCA2 genes. In women of Ashkenazi Jewish ascendance, up to 30% of breast and ovarian carcinomas may be attributable to mutations in these genes, where 3 founder mutations, c.68_69del (185delAG) and c.5266dup (5382insC) in BRCA1 and c.5946del (6174delT) in BRCA2, are com...
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Germline mutations in the human breast cancer genes BRCA1 and BRCA2 account for a substantial proportion of familial, early-onset breast and ovarian cancers. The present study reports a novel disease-causing BRCA1 mutation, nucleotide 3020insCT/c.2901insCT, in a 55-year-old Spanish female with breast and ovarian cancer. This frameshift mutation creates a premature stop codon at amino acid 1000,...
متن کاملClinical, Molecular and Geographical Features of Hereditary Breast/Ovarian Cancer in Latvia
INTRODUCTION The aim of the study is to evaluate the incidence and phenotype-genotype characteristics of hereditary breast and ovarian cancer syndromes in Latvia in order to develop the basis of clinical management for patients and their relatives affected by this syndrome. MATERIALS AND METHODS In 2002-2004 in two Latvian oncology hospitals (Liepãja Oncology Hospital and Daugavpils Oncology ...
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ژورنال
عنوان ژورنال: Vìsnik problem bìologìï ì medicini
سال: 2023
ISSN: ['2523-4110', '2077-4214']
DOI: https://doi.org/10.29254/2077-4214-2023-2-169-244-251