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View article: Mutations in <scp><i>ATM</i></scp>, <scp><i>NBN</i></scp> and <scp><i>BRCA2</i></scp> predispose to aggressive prostate cancer in Poland
Mutations in <span><i>ATM</i></span>, <span><i>NBN</i></span> and <span><i>BRCA2</i></span> predispose to aggressive prostate cancer in Poland Open
In designing national strategies for genetic testing, it is important to define the full spectrum of pathogenic mutations in prostate cancer (PCa) susceptibility genes. To investigate the frequency of mutations in PCa susceptibility genes …
View article: Inherited Variants in BLM and the Risk and Clinical Characteristics of Breast Cancer
Inherited Variants in BLM and the Risk and Clinical Characteristics of Breast Cancer Open
Bloom Syndrome is a rare recessive disease which includes a susceptibility to various cancers. It is caused by homozygous mutations of the BLM gene. To investigate whether heterozygous carriers of a BLM mutation are predisposed to breast c…
View article: Inherited variants in XRCC2 and the risk of breast cancer
Inherited variants in XRCC2 and the risk of breast cancer Open
XRCC2 c.96delT is a protein-truncating founder variant in Poland. There is no evidence that this mutation predisposes to breast cancer (and other cancers). It is premature to consider XRCC2 as a breast cancer-predisposing gene.
View article: The spectrum of mutations predisposing to familial breast cancer in Poland
The spectrum of mutations predisposing to familial breast cancer in Poland Open
To optimize genetic testing, it is necessary to establish the spectrum of breast cancer‐predisposing mutations in particular ethnic groups. We studied 1,018 women with a strong family history for breast cancer (families with hereditary bre…
View article: Inherited NBN Mutations and Prostate Cancer Risk and Survival
Inherited NBN Mutations and Prostate Cancer Risk and Survival Open
The NBN 657del5 mutation predisposes to poor prognosis prostate cancer. The pathogenicity of this mutation, with regards to both prostate cancer risk and survival, is modified by a missense variant of the same gene (E185Q).
View article: The 30 kb deletion in the <i>APOBEC3</i> cluster decreases <i>APOBEC3A</i> and <i>APOBEC3B</i> expression and creates a transcriptionally active hybrid gene but does not associate with breast cancer in the European population
The 30 kb deletion in the <i>APOBEC3</i> cluster decreases <i>APOBEC3A</i> and <i>APOBEC3B</i> expression and creates a transcriptionally active hybrid gene but does not associate with breast cancer in the European population Open
APOBEC3B, in addition to other members of the APOBEC3 gene family, has recently been intensively studied due to its identification as a gene whose activation in cancer is responsible for a specific pattern of massively occurring somatic mu…