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Development and validation of next generation sequencing based 35-gene hereditary cancer panel
ConclusionsThe use of targeted NGS-based multigene testing panels to provide comprehensive analysis of cancer susceptible genes has been considered a viable option. In the present study, we developed and validated a 35-gene panel for testing 8 common cancers using next-generation sequencing (NGS). The performance of our hereditary cancer panel is assessed across a board range of variants in the 35 genes to support clinical use. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - April 27, 2020 Category: Cancer & Oncology Source Type: research

A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families
ConclusionsBased on functional and co-segregation data we classify theAPC c.289G>A, p.(Gly97Arg) variant as pathogenic (class 5). Our findings emphasize the importance of a functional evaluation of missense variants although located far from the exon-intron boundaries. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - April 6, 2020 Category: Cancer & Oncology Source Type: research

An interesting case of likely BRCA2 related bilateral breast cancer with metastasis in the fimbrial part of fallopian tube
ConclusionWe present an interesting and quite rare case of two primary breast carcinomas in a patient with a knownBRCA2 pathogenic variant with metastasis in the fimbrial part of the left Fallopian tube. We conclude that there were two primary breast tumours and the one from 2011 spread into the fimbrial part of the left Fallopian tube in 2016. Despite the fact that molecular analyses could not confirm the joint tumour origin, we believe that there was a receptor status conversion over time explaining different receptor status. The possibility of a triple-negative metastasis from the tumour treated in 1998 is less probable...
Source: Hereditary Cancer in Clinical Practice - March 18, 2020 Category: Cancer & Oncology Source Type: research

The Prospective Lynch Syndrome Database reports enable evidence-based personal precision health care
AbstractThe aims of the Prospective Lynch Syndrome Database (PLSD) are to provide empirical prospectively observed data on the incidences of cancer in different organs, survival following cancer and the effects of interventions in carriers of pathogenic variants of the mismatch repair genes (path_MMR) categorized by age, gene and gender. Although PLSD is assumption-free, as with any study the ascertainment procedures used to identify the study cohort will introduce selection biases which have to be declared and considered in detail in order to provide robust and valid results. This paper provides a commentary on the method...
Source: Hereditary Cancer in Clinical Practice - March 13, 2020 Category: Cancer & Oncology Source Type: research

Diet, weight management, physical activity and Ovarian & amp; Breast Cancer Risk in women with BRCA1/2 pathogenic Germline gene variants: systematic review
ConclusionsThere is not enough evidence to suggest tailored recommendations for dietary habits or weight management among women withBRCA1/2 pathogenic variants compared to the general population for ovarian and breast cancer risk-reduction, and physical activity recommendations should remain the same. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - March 6, 2020 Category: Cancer & Oncology Source Type: research

Ubiquitous neurocognitive dysfunction in familial adenomatous polyposis: proof-of-concept of the role of APC protein in neurocognitive function
ConclusionAPC protein has an important role in neurocognitive function. The pervasive nature of the observed cognitive dysfunction suggests that loss or dysfunction of the APC protein impacts processes in cortical and subcortical brain regions. Additional studies examining larger ethnically diverse cohorts with FAP are warranted. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - February 23, 2020 Category: Cancer & Oncology Source Type: research

Group plus “mini” individual pre-test genetic counselling sessions for hereditary cancer shorten provider time and improve patient satisfaction
ConclusionsGroup pre-test genetic counselling combined with immediate “mini” individual session is strongly supported by patients and reduces wait times. Additional formal investigation of this approach in larger numbers of patients is warranted. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - February 18, 2020 Category: Cancer & Oncology Source Type: research

On the road with Henry Lynch
(Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - January 26, 2020 Category: Cancer & Oncology Source Type: research

Whole-body MRI within a surveillance program for carriers with clinically actionable germline TP53 variants - the Swedish constitutional TP53 study SWEP53
ConclusionsThe SWEP53 is the first structured national surveillance program including radiological and clinical routines forTP53 mutation carriers in the Scandinavian setting. The aim of this publication is to present and describe the ongoing Swedish surveillance study to encourage the initiation of similar studies and to contribute to the knowledge of adequate clinical handling of these cancer prone families.Trial registrationTrial registration number:ISRCTN13103571, retrospectively registered on 14/10/2019. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - January 12, 2020 Category: Cancer & Oncology Source Type: research

Serum selenium level and cancer risk: a nested case-control study
ConclusionsResults from this study suggest that suggest that the optimum serum level of selenium in women living in Poland should be between 70  μg/L and 90 μg/L. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - December 22, 2019 Category: Cancer & Oncology Source Type: research

Recommended care and care adherence following a diagnosis of Lynch syndrome: a mixed-methods study
ConclusionsWe identified fewer than expected patients with LS in our large care system, indicating that there is still a diagnostic care gap. However, patients with LS were likely to receive and follow CRC surveillance recommendations. Recommendations for and adherence to extracolonic surveillance were variable. Improved care coordination and clearer documentation of the LS diagnosis is needed. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - December 15, 2019 Category: Cancer & Oncology Source Type: research

Patients with pathogenic variants for breast cancer other than BRCA1 and BRCA2: qualitative interviews about health care experiences
ConclusionsResearch is required to understand the clinical significance and proper management of diseases attributable to newly characterized hereditary cancer genes. Additional evaluation of patient and provider education should be at the forefront of efforts to improve patient care. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - December 15, 2019 Category: Cancer & Oncology Source Type: research

Genetic counselling and personalised risk assessment in the Australian pancreatic cancer screening program
ConclusionsParticipants reported multiple benefits of genetic counselling and testing but continue to seek greater clarification about their individual PC risk. Extension of PancPRO is required to enable personalised PC risk assessment for all high-risk sub-groups. More detailed discussion of PC risk forBRCA2 pathogenic variant carriers, providing a written summary in all cases and a plan for genetics review were identified as areas for improvement. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - October 22, 2019 Category: Cancer & Oncology Source Type: research

Prevalence and spectrum of MLH1 , MSH2 , and MSH6 pathogenic germline variants in Pakistani colorectal cancer patients
ConclusionPathogenic/likely pathogenicMLH1/MSH2 variants account for a substantial proportion of CRC patients with HNPCC/suspected-HNPCC in Pakistan. Our findings suggest that HNPCC/suspected-HNPCC families should be tested for these recurrent variants prior to comprehensive gene screening in this population. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - October 22, 2019 Category: Cancer & Oncology Source Type: research

Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report
ConclusionsInpath_MLH1 andpath_MSH2 carriers, more advanced colon cancer stage was associated with poorer survival, whereas time since previous colonoscopy was not. Although the numbers are limited, together with our previously reported findings, these results may be in conflict with the view that follow-up ofpath_MMR variant carriers with colonoscopy intervals of less than 3  years provides significant benefit. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - October 13, 2019 Category: Cancer & Oncology Source Type: research