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Psychological and health behaviour outcomes following multi-gene panel testing for hereditary breast and ovarian cancer risk: a mini-review of the literature
ConclusionThe findings in this review emphasize the need for studies examining psychological and health behavior outcomes associated with panel testing to include between group differences based upon both variant pathogenicity and gene penetrance. Future studies evaluating the impact of gene penetrance on patient-reported and clinical outcomes will require large samples to be powered for these analyses given that a limited number of tested individuals are found to have a PV. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - June 22, 2022 Category: Cancer & Oncology Source Type: research

Spectrum of germline pathogenic variants using a targeted next generation sequencing panel and genotype-phenotype correlations in patients with suspected hereditary breast cancer at an academic medical centre in Pakistan
ConclusionsIn our HBC clinic, we observed that our rate of positive results is comparable, yet at the higher end of the range which is reported in other populations.  The importance of expanded, multi-gene panel testing is highlighted by the fact that almost half of the patients had pathogenic or likely pathogenic variants in genes other thanBRCA1/2, and that our test positivity rate would have only been 12.8% if onlyBRCA1/2 testing was done. As the database expands and protocol-driven referrals are made across the country, our insight about the genetic architecture of HBC in our population will continue to increase. (Sou...
Source: Hereditary Cancer in Clinical Practice - June 16, 2022 Category: Cancer & Oncology Source Type: research

Clinical characteristics and genetic testing outcome of suspected hereditary peripheral nerve sheath tumours in a tertiary cancer institution in Singapore
ConclusionHereditary PNSTs are rare referrals to an adult cancer genetics clinic. NF1 is the most common PNST seen. LZTR1 variants may be the underlying cause in Asian patients with multiple schwannomatosis. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - June 13, 2022 Category: Cancer & Oncology Source Type: research

Literacy-adapted, electronic family history assessment for genetics referral in primary care: patient user insights from qualitative interviews
ConclusionsEven for participants who experienced barriers to tool use, family history self-assessment was considered an acceptable alternative to clinician-collected family history. Barriers experienced could be overcome with minor adaptations to the current family history tool.Trial registrationThis study is a sub-study of the Cancer Health Assessments Reaching Many (CHARM) trial, ClinicalTrials.gov, NCT03426878. Registered 8 February 2018. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - June 10, 2022 Category: Cancer & Oncology Source Type: research

Beyond the pill: contraception and the prevention of hereditary ovarian cancer
AbstractBRCA1 andBRCA2 mutation carriers face an elevated lifetime risk of developing ovarian cancer. Oral contraceptives have been shown to significantly decrease the risk of ovarian cancer by approximately 50% in this high-risk population. Changes in contraceptive formulations and patterns of use over time have introduced lower hormonal dosages, different steroid types and non-oral routes of administration. Specifically, there has been a considerable shift in patterns of contraceptive use and the increase in the uptake of non-oral, long-acting, reversible contraception (e.g., intrauterine devices, implants, injections) h...
Source: Hereditary Cancer in Clinical Practice - June 6, 2022 Category: Cancer & Oncology Source Type: research

Correction: When is a mutation not a mutation: the case of the c.594-2A & gt;C splice variant in a woman harbouring another BRCA1 mutation in trans
(Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - May 30, 2022 Category: Cancer & Oncology Source Type: research

Statewide trends and factors associated with genetic testing for hereditary cancer risk in Arkansas 2013 –2018
ConclusionGT rates for hereditary cancer syndromes have increased in Arkansas but remain low. Receipt of GT was explained with high discrimination by sex and plan type.ImpactExpansion of GT for hereditary cancer risk in Arkansas is needed to identify high-risk individuals who could benefit from risk-reduction strategies. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - May 23, 2022 Category: Cancer & Oncology Source Type: research

Lynch syndrome testing of colorectal cancer patients in a high-income country with universal healthcare: a retrospective study of current practice and gaps in seven australian hospitals
ConclusionsGiven the LS testing and referral gaps, further work is needed to identify strategies for successful integration of LS testing into clinical care, and provide a model for hereditary cancers and broader genomic medicine. Standardised reporting may help clinicians interpret tumour test results and initiate further actions. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - May 4, 2022 Category: Cancer & Oncology Source Type: research

Identifying patients with Lynch syndrome using a universal tumor screening program in an integrated healthcare system
ConclusionsUTS identified individuals at risk for LS. Most individuals who screened positive for LS had follow-up germline genetic testing for LS. The consistent use of biopsy samples is an opportunity to improve UTS. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - April 18, 2022 Category: Cancer & Oncology Source Type: research

CMMRD caused by PMS1 mutation in a sudanese consanguineous family
AbstractA consanguineous family of three siblings presented with different early onset pediatric cancers. Whole-exome sequencing of parents DNA revealed a deleterious frameshift mutation in hPMS1 the first to be reported in association to a CMMRD phenotype. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - April 15, 2022 Category: Cancer & Oncology Source Type: research

Reflex BRCA1 and BRCA2 tumour genetic testing for high-grade serous ovarian cancer: streamlined for clinicians but what do patients think?
ConclusionsThis study is the first to assess psychological outcomes following reflexBRCA1/2 tumour genetic testing in women newly diagnosed with HGSOC. Increased dispositional optimism provided a protective effect, while increased cancer-related distress increased the psychological impact of tumour genetic testing. Educational resources are needed to help increase patient understanding and recall of tumour results, particularly when tumour genetic testing includes analysis of genes that may have implications for hereditary cancer risk. Additional research is required to better understand the patient experience of reflex tu...
Source: Hereditary Cancer in Clinical Practice - April 13, 2022 Category: Cancer & Oncology Source Type: research

Delineating the role of osteoprotegerin as a marker of breast cancer risk among women with a BRCA1 mutation
AbstractWomen with a pathogenic germline mutation in theBRCA1 gene face a very high lifetime risk of developing breast cancer, estimated at 72% by age 80. Prophylactic bilateral mastectomy is the only effective way to lower their risk; however, most women with a mutation opt for intensive screening with annual MRI and mammography. Given that theBRCA1 gene was identified over 20  years ago, there is a need to identify a novel non-surgical approach to hereditary breast cancer prevention. Here, we provide a review of the emerging preclinical and epidemiologic evidence implicating the dysregulation of progesterone-mediated r...
Source: Hereditary Cancer in Clinical Practice - April 13, 2022 Category: Cancer & Oncology Source Type: research

Germline BRCA1 and BRCA2 mutations and the risk of bladder or kidney cancer in Poland
ConclusionIn conclusion, we found no difference in the prevalence ofBRCA1 andBRCA2 founder mutations between cases and healthy controls. The mutationsBRCA1 andBRCA2 seem not to play a role in bladder and kidney cancer development in Polish patients. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - April 8, 2022 Category: Cancer & Oncology Source Type: research

Frequency of BRCA1 and BRCA2 mutations in ovarian cancer patients in South-East Poland
ConclusionsThe frequency ofBRCA1 orBRCA2 gene mutation carriers among patients with ovarian cancer from the Podkarpacie region is comparable to other regions of Poland. However, a significantly higher percentage ofBRCA2 gene mutations was observed, that were not detectable with a standard test for detection of founder mutations. Diagnostics based only on testing theBRCA1/2 Polish founder mutations is characterized by relatively low sensitivity in the case of ovarian cancer patients from South-East Poland and should be supplemented by NGS study, in particular of theBRCA2 gene. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - April 5, 2022 Category: Cancer & Oncology Source Type: research

Association of recurrent mutations in BRCA1, BRCA2, RAD51C, PALB2, and CHEK2 with the risk of borderline ovarian tumor
ConclusionsResults suggest thatCHEK2(c.470T>C) may possibly play a role in the pathogenesis of BOT, but due to the low number of BOT patients, obtained results should be considered as preliminary. Larger more in-depth studies are required. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - March 21, 2022 Category: Cancer & Oncology Source Type: research