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Characteristics and genetic testing outcomes of patients with clinically suspected paraganglioma/pheochromocytoma (PGL/PCC) syndrome in Singapore
ConclusionHereditary PGL/PCC accounts for only 0.6% of patients seen in an adult cancer genetics clinic in Asia.SDHD andSDHB genes remain the most important causative genes of hereditary PGL/PCC in Asia even when patients are tested with multi-gene NGS panel. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - December 11, 2020 Category: Cancer & Oncology Source Type: research

Metachronous cutaneous squamous cell carcinoma in a young patient as the only presenting symptom to uncover Lynch syndrome with MLH1 Germline mutation
ConclusionsCutaneous squamous cell carcinoma, although rare, can be the initial presenting symptom in patients with Lynch syndrome. This association has been described in patients with germline mutations in MLH1. Lynch syndrome should be considered when evaluating young patients presenting with recurrent cutaneous squamous cell carcinoma with positive family history of malignancy and/ or without any identifiable risk factors for skin cancers, including those with a durable and rapid response to immunotherapy. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - November 16, 2020 Category: Cancer & Oncology Source Type: research

An in-depth exploration of the post-test informational needs of BRCA1 and BRCA2 pathogenic variant carriers in Asia
This study aims to explore the informational needs ofBRCA1/2 pathogenic variant carriers in Asia to inform for the design of educational materials to support risk management decision-making.MethodsSemi-structured in-depth interviews were conducted with two male and 22 female English-speakingBRCA1/2 pathogenic variant carriers, aged 29 –66 years, identified through the Cancer Genetics Service at the National Cancer Centre Singapore. A grounded theory approach with thematic analysis was undertaken to extract dominant themes.ResultsFour themes were identified: (i) proactive online information seeking behaviors (ii) person...
Source: Hereditary Cancer in Clinical Practice - October 23, 2020 Category: Cancer & Oncology Source Type: research

Biological and clinical impact of central nervous system hemangioblastomas in Chinese patients with von Hippel-Lindau disease: implications for treatment
ConclusionVHL-associated CNS HGB is a long-term chronic disease with repeated attacks, likely with genetic anticipation in Chinese pedigrees. When the age at first operation is under 27.5  years, or the postoperative period is longer than 10.5 years, the risk of multiple operations is increased. While most unresected HGBs remain stable after surgery, new tumors may still slowly emerge; hence, scheduled follow-ups are necessary. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - October 22, 2020 Category: Cancer & Oncology Source Type: research

Preferences for breast cancer prevention among women with a BRCA1 or BRCA2 mutation
ConclusionsWomen revealed a willingness to undergo surgeries to achieve largest reduction in breast cancer risk, although this would not be recommended for a younger woman in her 20s. The goal of achieving the highest degree of cancer risk reduction is the primary driver for women withBRCA1 orBRCA2 mutations in selecting an intervention and a sequence of interventions, regardless of whether it is non-surgical or surgical. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - September 28, 2020 Category: Cancer & Oncology Source Type: research

Patients with unexplained mismatch repair deficiency are interested in updated genetic testing
ConclusionsUpdated risk assessment and genetic counseling with a discussion of the benefits and limitations of germline and somatic genetic testing, is essential as the understanding of UMMRD and genetic testing recommendations for this population evolve. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - September 20, 2020 Category: Cancer & Oncology Source Type: research

Public support for healthcare-mediated disclosure of hereditary cancer risk information: Results from a population-based survey in Sweden
ConclusionsIn this study a majority of respondents wanted to be informed about a potential hereditary risk of CRC and preferred healthcare professionals to communicate this information. The two presented levels of CRC lifetime risk did not significantly affect the interest in being informed. Our data offer insights into the needs and preferences of the Swedish population, providing a rationale for developing complementary healthcare-assisted communication pathways to realise the full potential of targeted prevention of hereditary CRC. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - September 14, 2020 Category: Cancer & Oncology Source Type: research

Retrospective review of outcomes in patients with DNA-damage repair related pancreatic cancer
ConclusionsHistorical survival in patients with advanced and metastatic pancreas cancer is poor. Results of this DDR-subset of patients do show significantly superior outcomes, likely secondary to exposure to platinum drugs. This data, alongside other similar cohorts, would favor the DDR-genes being a predictive marker with improved survival if exposed to these drugs and the new class of drugs, PARP-inhibitors. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - August 9, 2020 Category: Cancer & Oncology Source Type: research

Polymorphisms in MMP-1 , MMP-2 , MMP-7, MMP-13 and MT2A do not contribute to breast, lung and colon cancer risk in polish population
ConclusionsAnalyses of polymorphisms, rs1799750 inMMP-1, rs243865 inMMP-2, rs11568818 inMMP-7, rs2252070 inMMP-13 and rs28366003 inMT2A in relation to serum Zn level did not show significant association with breast, lung and colon cancer risk among polish patients. Further studies are needed to verify this observation. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - July 30, 2020 Category: Cancer & Oncology Source Type: research

Informing patients about their mutation tests: CDKN2A c.256G & gt;A in melanoma as an example
ConclusionsThe pedigree data showed at the most a low penetrance variant, which, if taken into consideration, might have altered the provided diagnosis. When dealing with ‘practically’ unknown variants the counselors would be advised to incorporate a detailed family history rather than basing predictions on functionality provided by sequencing facilities. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - July 30, 2020 Category: Cancer & Oncology Source Type: research

An American patient with polyposis carrying a Scandinavian AXIN2 pathogenic variant
(Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - July 29, 2020 Category: Cancer & Oncology Source Type: research

Adherence to National Comprehensive Cancer Network Guidelines for BRCA testing among high risk breast Cancer patients: a retrospective chart review study
ConclusionsAdherence to NCCNBRCA testing guidelines is high in this group of predominantly medical oncologists with extensive experience, with a high proportion having a genetic counselor in practice. Testing rates can be improved in patients with risk factors related to male relatives. High level of compliance to guidelines in a community setting is possible with a delivery model for genetic counseling and testing. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - June 5, 2020 Category: Cancer & Oncology Source Type: research

Increased risk for uterine cancer among first-degree relatives to Swedish gastric cancer patients
ConclusionsThere seems to be an increased risk of both gastric cancer and uterine cancer in the families of gastric cancer survivors, indicating a possible hereditary connection between these two cancer types. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - June 4, 2020 Category: Cancer & Oncology Source Type: research

Correction to: Expectations and psychological issues before genetic counseling: analysis of distress determinant factors
An amendment to this paper has been published and can be accessed via the original article. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - May 18, 2020 Category: Cancer & Oncology Source Type: research

Expectations and psychological issues before genetic counseling: analysis of distress determinant factors
ConclusionsGreater level of distress identified on females, single and younger subjects. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - April 28, 2020 Category: Cancer & Oncology Source Type: research