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Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS)
ConclusionsSomatic mutations seem to be rare events in early hyperplastic and serrated lesions of SPS patients. Neither frequently affected genes nor enrichment of specific pathways were observed. Thus, other alterations such as non-coding variants or epigenetic changes might be the major driving force of tumour progression in SPS. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - November 29, 2017 Category: Cancer & Oncology Source Type: research

RETRACTED ARTICLE: The BRCA2 variant c.68-7 T & gt;A is associated with breast cancer
ConclusionBRCA2 c.68-7T>A is associated with breast cancer. In the families selected due to aggregation of breast cancer, carriers of theBRCA2 c.68-7T>A variant have increased risk for breast cancer. It is, however, possible that the variant has lower penetrance than the average pathogenicBRCA2 variants, and that in the families selected for having known aggregation of breast cancer other (modifying) factors contributed to the observed results. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - November 13, 2017 Category: Cancer & Oncology Source Type: research

The BRCA2 variant c.68-7 T & gt;A is associated with breast cancer
ConclusionBRCA2 c.68-7T>A is associated with breast cancer. In the families selected due to aggregation of breast cancer, carriers of theBRCA2 c.68-7T>A variant have increased risk for breast cancer. It is, however, possible that the variant has lower penetrance than the average pathogenicBRCA2 variants, and that in the families selected for having known aggregation of breast cancer other (modifying) factors contributed to the observed results. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - November 13, 2017 Category: Cancer & Oncology Source Type: research

Clinical and genetic characterization of hereditary breast cancer in a Chinese population
ConclusionsWe found increased genetic causative variants in the familial breast cancer group and in high-risk women with a family history of breast cancer. However, the variant MUTYH c.892-2A  >  G may not be directly associated with hereditary breast carcinoma. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - October 30, 2017 Category: Cancer & Oncology Source Type: research

Meeting abstracts from the Annual Conference on Hereditary Cancers 2015
(Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - October 10, 2017 Category: Cancer & Oncology Source Type: research

Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report
ConclusionsThe hypothesis that the high incidence of CRC inpath_MLH1 carriers was caused by a higher incidence in the Finnish series was not valid. We discuss whether the results were influenced by methodological shortcomings in our study or whether the assumption that a shorter interval between colonoscopies leads to a lower CRC incidence may be wrong. This second possibility is intriguing, because it suggests the dogma that CRC inpath_MLH1 carriers develops from polyps that can be detected at colonoscopy and removed to prevent CRC may be erroneous. In view of the excellent 10-year overall survival in the Finnish and non-...
Source: Hereditary Cancer in Clinical Practice - October 10, 2017 Category: Cancer & Oncology Source Type: research

Meeting abstracts from the Annual Conference on Hereditary Cancers 2015
(Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - October 10, 2017 Category: Cancer & Oncology Source Type: research

Emotional impact on the results of BRCA1 and BRCA2 genetic test: an observational retrospective study
ConclusionThe psycho-emotional screening of women undertaking genetic counseling is relevant and should cover a large range of dimensions. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - October 2, 2017 Category: Cancer & Oncology Source Type: research

The potential role of miRNAs in therapy of breast and ovarian cancers associated with BRCA1 mutation
This article reviews reported relationships between various miRNAs, such as miRNA-9, miRNA-146a, miRNA-182 miRNA-218, miRNA-638 and the response to cytostatic drugs, mainly to platins and PARP1 inhbitors, for the treatment of breast and ovarian cancer associated with BRCA1 mutations. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - September 29, 2017 Category: Cancer & Oncology Source Type: research

Motivators and barriers of tamoxifen use as risk-reducing medication amongst women at increased breast cancer risk: a systematic literature review
ConclusionsResults indicate that the decision for high-risk women regarding tamoxifen use or non-use as a risk-reducing medication is not straightforward. Support of women making this decision is essential and needs to encompass the full range of factors, both informational and psychological. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - September 20, 2017 Category: Cancer & Oncology Source Type: research

Evaluation of psychosocial aspects in participants of cancer genetic counseling
ConclusionsThe results of our study suggest that the PHI should be applied in addition to HADS to identify participants who would require psychological support due to recurrent concerns. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - September 20, 2017 Category: Cancer & Oncology Source Type: research