Risk management adherence following genetic testing for hereditary cancer syndromes: a Singaporean experience

AbstractAssessing adherence behavior among mutation carriers to cancer risk management guidelines is important for both service improvement and cost-effectiveness analyses, but such real-world data is often lacking. The present study aims to report adherence rates among mutation carriers in a recently established cancer genetics program in Singapore. We conducted a medical chart review of mutation carriers who had attended for genetic counseling and gathered data regarding risk management behavior, including cancer surveillance and/or risk-reducing surgery, and cancers subsequently detected. Of the 52 subjects included in the study, the majority were affected prior to genetic testing (78.8%) and had family history suggestive of a germline mutation (88.5%). The overall adherence rate was 96.2%, including 37 (74.0%) fully-adherent and 13 (26.0%) partially-adherent subjects, with five cancers subsequently detected. Among the 28BRCA1/2 mutation carriers, adherence to breast cancer risk management was also high (89.3%), although uptake of risk-reducing  bilateral salpingo-oophorectomy was not as common (60%). Whilst overall adherence in this cohort was high,BRCA1/2 mutation carriers may require targeted interventions to improve ovarian cancer risk management uptake. Additionally, further education among health professionals and the wider community regarding cancer genetics is needed to ensure the early identification of mutation carriers.
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research

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Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
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Source: Nutricion Hospitalaria - Category: Nutrition Authors: Tags: Nutr Hosp Source Type: research
ConclusionThis case study demonstrates that a comprehensive characterization of a structural variant by breakpoint assessment is crucial for its correct classification. Therefore, sequencing strategies including non ‐coding regions might be necessary to identify cancer predispositions in affected families.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research
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Source: Oncotarget - Category: Cancer & Oncology Tags: Oncotarget Source Type: research
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Source: Biochemical Pharmacology - Category: Drugs & Pharmacology Authors: Tags: Biochem Pharmacol Source Type: research
e;s C Abstract In France, breast cancer is the most common cancer among women and the leading cause of cancer deaths. Identifying women with a "high" or "very high" breast cancer risk, according the terminology of the Haute Autorité de Santé 2014 guidelines, is essential to offer them special cares in term of screening and prevention. Women genetically predisposed have a very high risk of breast cancer. During the oncogenetic specialist consultation, familial and personal history of cancer is taken into account to evaluate the risk of hereditary Breast/Ovarian syndrome and th...
Source: Presse Medicale - Category: General Medicine Authors: Tags: Presse Med Source Type: research
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Source: Current Opinion in Endocrinology, Diabetes and Obesity - Category: Endocrinology Tags: REPRODUCTIVE ENDOCRINOLOGY: Edited by Wendy Kuohung Source Type: research
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Source: Cancers - Category: Cancer & Oncology Authors: Tags: Article Source Type: research
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Source: The International Journal of Biochemistry and Cell Biology - Category: Biochemistry Authors: Tags: Int J Biochem Cell Biol Source Type: research
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Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research
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