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Unusual course of disease and genetic profile in Li-Fraumeni syndrome-associated osteosarcoma – a case report
ConclusionGenetic examination of the tumour evidenced several copy number alterations with striking differences to previously reported data. We discuss possible influences of the genetic profile on the unusual clinical course and the significance of Li-Fraumeni syndrome for the genetic profile. Specific loss of (proto-) oncogenes might have contributed to the unusual case. Further large-scale genetics of Li-Fraumeni patients combined with detailed clinical data will help to identify specific genetic risk profiles and improve treatment. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - October 20, 2021 Category: Cancer & Oncology Source Type: research

“Left in limbo”: Exploring how patients with colorectal cancer interpret and respond to a suspected Lynch syndrome diagnosis
ConclusionsOur study findings highlight the variability in patients ’ interpretations of their diagnosis, cancer risk management and family communication when a diagnosis of SLS is received, and provide novel insights into how healthcare professionals can better support patients with SLS. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - October 16, 2021 Category: Cancer & Oncology Source Type: research

Germline mutations among Polish patients with acute myeloid leukemia
ConclusionsWe showed higher frequency ofCEBPA, ETV6, andIDH2 germline mutations in AML patients than in control group, which confirms the role of these mutations in the development of AML. We also showed that the median age at the onset of AML in patients with pathogenic germline mutations is significantly lower than in patients without them. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - October 12, 2021 Category: Cancer & Oncology Source Type: research

Danish guidelines for management of non-APC-associated hereditary polyposis syndromes
AbstractHereditary Polyposis Syndromes are a group of rare, inherited syndromes characterized by the presence of histopathologically specific or numerous intestinal polyps and an increased risk of cancer. Some polyposis syndromes have been known for decades, but the development in genetic technologies has allowed the identification of new syndromes.. The diagnosis entails surveillance from an early age, but universal guideline on how to manage and surveille these new syndromes are lacking. This paper represents a condensed version of the recent guideline (2020) from a working group appointed by the Danish Society of Medica...
Source: Hereditary Cancer in Clinical Practice - October 7, 2021 Category: Cancer & Oncology Source Type: research

Improving our model of cascade testing for hereditary cancer risk by leveraging patient peer support: a concept report
AbstractConsensus and evidence suggest that cascade testing is critical to achieve the promise of cancer genetic testing. However, barriers to cascade testing include effective family communication of genetic risk information and family members ’ ability to cope with genetic risk. These barriers are further complicated by the developmental needs of unaffected family members during critical windows for family communication and adaptation. Peer support could address these barriers. We provide two illustrative examples of ongoingBRCA1/2-related clinical trials that apply a peer support model to improve family communication ...
Source: Hereditary Cancer in Clinical Practice - September 26, 2021 Category: Cancer & Oncology Source Type: research

Risk reduction strategies for BRCA1/2 hereditary ovarian cancer syndromes: a clinical practice guideline
ConclusionsIn women who harbour a pathogenic or likely pathogenic variant inBRCA1 andBRCA2 screening for ovarian cancer is not recommended. Risk-reducing surgery is recommended to reduce the risk of ovarian cancer. In the absence of contraindications, premenopausal women undergoing RRSO should be offered hormone therapy until menopause. Systemic hormone replacement therapy, is not recommended for women who have had a personal history of breast cancer. RRSO should be considered for breast cancer risk reduction in women younger than 50  years. After a breast cancer diagnosis, RRSO for breast cancer mortality reduction can ...
Source: Hereditary Cancer in Clinical Practice - September 26, 2021 Category: Cancer & Oncology Source Type: research

Descriptive study on subjective experience of genetic testing with respect to relationship, family planning and psychosocial wellbeing among women with lynch syndrome
ConclusionsThe positive germline testing does not seem to have a major negative impact on family planning, intimate relationships or feminine self and body image. According to the open comments, counselling, supportive and empathic attitude of the professionals seem to have a significant impact on this. These results are a valuable addition to the counselling of LS women at reproductive age. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - September 14, 2021 Category: Cancer & Oncology Source Type: research

Correction to: Significant detection of new germline pathogenic variants in Australian Pancreatic Cancer Screening Program participants
(Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - September 8, 2021 Category: Cancer & Oncology Source Type: research

Cytotoxic and targeted therapy for BRCA1/2-driven cancers
AbstractTumors arising inBRCA1/2 germline mutation carriers usually demonstrate somatic loss of the remainingBRCA1/2 allele and increased sensitivity to platinum compounds, anthracyclines, mitomycin C and poly (ADP-ribose) polymerase inhibitors (PARPi). Exposure to conventional platinum-based therapy  or PARPi results in the restoration ofBRCA1/2 function and development of resistance to systemic therapy, therefore, there is a need for other treatment options. Some studies suggested that the use of specific drug combinations or administration of high-dose chemotherapy may result in pronounced tumor responses.BRCA1/2-drive...
Source: Hereditary Cancer in Clinical Practice - August 28, 2021 Category: Cancer & Oncology Source Type: research

Population or family history based BRCA gene tests of breast cancer? A systematic review of economic evaluations
ConclusionsThe genetic BRCA tests for the general population as well as unselected breast cancer patients were cost-effective in high and upper-middle income countries and those with prevalence of gene mutation while population-based genetic tests for low-middle income countries are depended on the price of the tests. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - August 28, 2021 Category: Cancer & Oncology Source Type: research

Myxofibrosarcoma harboring an MLH1 pathogenic germline variant associated with Muir-Torre syndrome: a case report
ConclusionsThis is the first case of MSI-H myxofibrosarcoma with MTS in anMLH1 PGV carrier. Although rare, we should recognize that sarcomas can be part of the spectrum of LS and MTS. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - August 21, 2021 Category: Cancer & Oncology Source Type: research

Significant detection of new germline pathogenic variants in Australian Pancreatic Cancer Screening Program participants
ConclusionGermline pathogenic variants associated with PDAC were seen in 29.1% of our high-risk cohort (55/189 kindreds; 82/285 participants). Importantly, 10.4% of kindreds offered genetic testing were newly identified as having germline pathogenic variants, with majority beingBRCA2. As genetic testing standards evolve rapidly in PDAC, 5-yearly reassessment of high-risk individuals by Familial Cancer Services is warranted. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - August 16, 2021 Category: Cancer & Oncology Source Type: research

Expanding the phenotype of E318K (c.952G   & gt;  A) MITF germline mutation carriers: case series and review of the literature
ConclusionsOur retrospective analysis data raise the hypothesis of a possible association of theMITF p.E318K pathogenic variant with an increased risk of breast cancer. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - July 21, 2021 Category: Cancer & Oncology Source Type: research

Evaluation and comparison of hereditary Cancer guidelines in the population
ConclusionHereditary cancer CPGs are useful for identifying patients at risk of developing cancer based on FHx. This comparison shows that with the aid of chatbots, ontologies, and web services, CPGs can be more efficiently applied to identify patients at risk of hereditary cancer. Additionally this comparison examines similarities and differences between ACMG and NCCN and shows the importance of using both guidelines when evaluating hereditary cancer risk. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - July 17, 2021 Category: Cancer & Oncology Source Type: research

Ultrasound guided needle biopsy of axilla to evaluate nodal metastasis after preoperative systemic therapy in cohort of 106 breast cancers enriched with BRCA1/2 pathogenic variant carriers
ConclusionFNAC after PST has low FPR and is useful to predict residual axillary disease and to streamline surgical decision making regarding ALND both inBRCA1/2 positive and negative subgroups. FNR is high in overall cohort and FNAC alone are not able to predict ypCR and omission of further axillary surgery. However, FNAC performance inBRCA1/2 positive subgroup is more promising and further research with larger number of cases is necessary to confirm the results. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - July 7, 2021 Category: Cancer & Oncology Source Type: research