BRCA1 mutation carriers

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ARTICLES Cancer Incidence in BRCA1 Mutation Carriers

Background: Germline BRCA1 mutations confer a substantial lifetime risk of breast and ovarian cancer, but whether cancer at other sites is increased is less clear. To evaluate the risks of other cancers in BRCA1 mutation carriers, we conducted a cohort study of 11 847 individuals from 699 families segregating a BRCA1 mutation that were ascertained in 30 centers across Europe and North America. ...

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Clinical Considerations of BRCA1- and BRCA2-Mutation Carriers: A Review

Individuals who carry an inherited mutation in the breast cancer 1 (BRCA1) and BRCA2 genes have a significant risk of developing breast and ovarian cancer over the course of their lifetime. As a result, there are important considerations for the clinician in the counseling, followup and management of mutation carriers. This review outlines salient aspects in the approach to patients at high ris...

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Management of Breast Cancer in BRCA1/2 Mutation Carriers

Breast-conserving therapy is widely embraced for the majority of women with early-stage breast cancer, but its appropriateness in patients with germline mutations of BRCA1 and BRCA2 remains controversial. These breast cancer susceptibility genes are associated with a progressive risk of second cancers, although the prognosis of BRCA-associated breast cancer is similar to that in patients with s...

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Selected aspects of genetic counselling for BRCA1 mutation carriers

This work consists of six parts based on seven manuscripts dealing with some aspects of genetic counselling for BRCA1 mutation carriers. It was demonstrated that the risk of breast and ovarian cancer in first-degree relatives of BRCA1 mutation carriers depends on the type of mutation and is higher in the younger generation. It was also shown that risk of breast cancer, but not of ovarian cancer...

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Survival in Norwegian BRCA1 mutation carriers with breast cancer

Several studies of survival in women with BRCA1 mutations have shown either reduced survival or no difference compared to controls. Programmes for early detection and treatment of inherited breast cancer, have failed to demonstrate a significant improvement in survival in BRCA1 mutation carriers.One hundred and sixty-seven women with disease-associated germline BRCA1 mutations and breast cancer...

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ژورنال

عنوان ژورنال: Nature Genetics

سال: 2013

ISSN: 1061-4036,1546-1718

DOI: 10.1038/ng.2593