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The curious case of a woman with two BRCA1 mutations in trans
(Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - November 26, 2015 Category: Cancer & Oncology Source Type: research

Pathological complete response to neoadjuvant cisplatin in BRCA1-positive breast cancer patients
(Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - November 26, 2015 Category: Cancer & Oncology Source Type: research

The frequency of BRCA1 founder mutation c.5266dupC (5382insC) in breast cancer patients from Ukraine
Abstract Germ-line mutations in several genes, such as BRCA1 and BRCA2, are known to increase the risk of breast cancer. These heritable mutations are unequally represented among populations with different ethnic background due to founder effects and thereby contribute to differences in breast cancer rates in different populations. The BRCA1 mutation c.5266dupC (also known as 5382insC or 5385insC) was detected in a sample of 193 breast cancer patients in Ukraine by multiplex mutagenically separated PCR using published specific primers. Nine BRCA1 mutations 5382insC were detected (4.7 %). The difference...
Source: Hereditary Cancer in Clinical Practice - October 13, 2015 Category: Cancer & Oncology Source Type: research

Next-generation sequencing for genetic testing of familial colorectal cancer syndromes
Conclusions The multiplex NGS approach has the advantage of analyzing multiple genes in multiple samples simultaneously, requiring only a reduced number of Sanger sequences to resolve homopolymeric DNA regions not adequately assessed by NGS. The implementation of NGS approaches in routine diagnostics of familial CRC is cost-effective and significantly reduces diagnostic turnaround times. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - August 21, 2015 Category: Cancer & Oncology Source Type: research

Cumulative BRCA mutation analysis in the Greek population confirms that homogenous ethnic background facilitates genetic testing
Abstract Screening for BRCA 1 and BRCA 2 mutations has long moved from the research lab to the clinic as a routine clinical genetic testing. BRCA molecular alteration pattern varies among ethnic groups which makes it already a less straightforward process to select the appropriate mutations for routine genetic testing on the basis of known clinical significance. The present report comprises an in depth literature review of the so far reported BRCA 1 and BRCA 2 molecular alterations in Greek families. Our analysis of Greek cumulative BRCA 1 and 2 molecular data, produced by several in...
Source: Hereditary Cancer in Clinical Practice - August 19, 2015 Category: Cancer & Oncology Source Type: research

The role of BRCA1 and BRCA2 mutations in prostate, pancreatic and stomach cancers
Abstract The association of germline mutations in the breast cancer susceptibility gene 1 (BRCA1) and the breast cancer susceptibility gene 2 (BRCA2) with the development of breast and ovarian cancers have been widely researched and recognised. It is known that these genes function at multiple sites in the body. Research has subsequently evolved into the connection of BRCA1/2 with cancers at other sites within the body. This review examines the association of BRCA1/2 germline gene mutations with prostate, pancreatic and stomach cancers. An extensive literature search revealed conflicting findings regard...
Source: Hereditary Cancer in Clinical Practice - August 1, 2015 Category: Cancer & Oncology Source Type: research

Tumour spectrum in non-BRCA hereditary breast cancer families in Sweden
Conclusion In conclusion, we found an overrepresentation of endometrial cancer in our cohort of hereditary non-BRCA families. Our result supports previous inconsistent reports of a putative breast and endometrial cancer syndrome. An association has been suggested in studies of families with several cases of breast cancer in close relatives or bilateral breast cancer. To clarify this issue we suggest further studies on a breast and endometrial cancer syndrome in cohorts with a strong pattern of hereditary breast cancer. Identifying new breast cancer syndromes is of importance to improve genetic counsel...
Source: Hereditary Cancer in Clinical Practice - June 16, 2015 Category: Cancer & Oncology Source Type: research

Ten modifiers of BRCA1 penetrance validated in a Norwegian series
Conclusions The results confirmed associations previously reported, with the notion that the degree of association may differ between other populations, which must be considered when discussing the clinical use of the associations described. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - May 30, 2015 Category: Cancer & Oncology Source Type: research

Patient experiences living with pancreatic cancer risk
Conclusion & future implications Study results begin to describe the lived experience of individuals with PancCa risk. Through this research we have uncovered important variables to further understand, measure, and intervene upon in future research. Distress related to risk was not described as ongoing, but occurred around specific and salient time points that brought risk to the forefront. Individuals with familial PancCa risk may have a unique experience compared to other hereditary cancer syndromes due to the high mortality of the disease and uncertainty related to prevention and early detectio...
Source: Hereditary Cancer in Clinical Practice - May 21, 2015 Category: Cancer & Oncology Source Type: research

A case of squamous cell carcinoma of the skin due to the molecularly confirmed Lynch Syndrome
Abstract Patients with Lynch Syndrome are at high risk for developing a variety of cancers including cancers of the colon or rectum, small bowel, stomach, uterus, renal pelvis, ureter, biliary tract, ovaries, brain and pancreas (N Engl J Med 348: 919-32, 2003; Gut 57:1097-101, 2008; NCCN, Inc Guideline. Ft. Washington, PA. Online Version 2.2014). Lack of MLH-1 and MSH-2 expression commonly result from germline mutations in this inherited cancer syndrome. Here, we report the case of a patient with a molecularly confirmed germline mutation in MLH-1 along with a colon cancer showing lack of expression of M...
Source: Hereditary Cancer in Clinical Practice - May 16, 2015 Category: Cancer & Oncology Source Type: research

Interest in genomic SNP testing for prostate cancer risk: a pilot survey
Conclusions Knowledge of genomic SNP testing was low in this sample, but higher among high-risk men. High-risk status may increase interest in novel genomic tests, while low literacy may lessen interest. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - April 8, 2015 Category: Cancer & Oncology Source Type: research

Decisions about prophylactic gynecologic surgery: a qualitative study of the experience of female Lynch syndrome mutation carriers
Conclusions Study findings highlight some of the factors associated with prophylactic surgery decisions and women’s perceptions about pre-surgical information provision and needs. Suggestions are made for improving the information and support provided to female carriers of a Lynch syndrome mutation. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - March 19, 2015 Category: Cancer & Oncology Source Type: research

Thank you to all our manuscript reviewers in 2014
Contributing reviewers The editors of Hereditary Cancer in Clinical Practice would like to thank all our reviewers who have contributed to the journal in 2014. Without the participation of skilful reviewers, no academic journal could succeed, and we are grateful to the committed individuals who have given their time and expertise to the peer review of manuscripts for Hereditary Cancer in Clinical Practice. We look forward to your continued support in 2015. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - March 12, 2015 Category: Cancer & Oncology Source Type: research

The c.470 T > C CHEK2 missense variant increases the risk of differentiated thyroid carcinoma in the Great Poland population
Conclusions Identification of c.470C CHEK2 gene variant ought to be taken into account by healthcare policymakers. Future well-designed and larger population studies are of great value in confirming these findings. Moreover, a combination of genetic factors together with environmental exposures should also be considered. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - March 1, 2015 Category: Cancer & Oncology Source Type: research

High expression of miR-214 is associated with a worse disease-specific survival of the triple-negative breast cancer patients
Conclusions Our finding suggests that miR-214 possibly could be used as a potential prognostic biomarker for triple-negative breast cancer patients. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - February 8, 2015 Category: Cancer & Oncology Source Type: research