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Two founder variants account for over 90% of pathogenic BRCA alleles in the Orkney and Shetland Isles in Scotland

Nature
Here, we report a BRCA2 splice acceptor variant, c.517-2A>G, found in breast and ovarian cancer families from Shetland.
1 month ago

Breast and Ovarian Cancer

The New England Journal of Medicine
Breast and ovarian cancers are among the most common cancers in women. It is known that a woman is at higher risk for breast or ovarian cancer if a family...
90 months ago

Oestrogen receptor status, treatment and breast cancer prognosis in Icelandic BRCA2 mutation carriers

Nature
We studied the effects of oestrogen receptor (ER) status, other prognostic factors and treatments on survival in a large cohort of BRCA2 mutation carriers.
99 months ago

The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions

Nature
We have previously developed a model (BOADICEA) under which susceptibility to breast cancer is explained by mutations in BRCA1 and BRCA2.
200 months ago

A genomewide linkage analysis for prostate cancer susceptibility genes in families from Germany

Nature
Prostate cancer is a complex disease with a substantial genetic contribution involved in the disease risk. Several genomewide linkage...
240 months ago

Clinical case study meets population cohort: identification of a BRCA1 pathogenic founder variant in Orcadians

Nature
We multiply ascertained the BRCA1 pathogenic missense variant c.5207T > C; p.Val1736Ala (V1736A) in clinical investigation of breast and ovarian cancer...
20 months ago

Genetic sequence variations of BRCA1-interacting genes AURKA BAP1 BARD1 and DHX9 in French Canadian Families with high risk of breast cancer

Nature
In this study, four genes encoding BRCA1-interacting proteins were analyzed in a cohort of 96 breast cancer individuals from high-risk non-BRCA1/BRCA2 French...
190 months ago

The molecular pathology of hereditary breast cancer: genetic testing and therapeutic implications

Nature
Cancer arising in carriers of mutations in the BRCA1 and BRCA2 genes differs from sporadic breast cancer of age-matched controls and from...
234 months ago