Genetic Counselling, Testing, and Management of Hereditary Breast and Ovarian Cancer Syndrome in India: Updated Expert Consensus Recommendations from Indian Society of Medical and Pediatric Oncology

Indian Journal of Medical and Paediatric Oncology, Journal Year: 2025, Volume and Issue: unknown

Published: March 3, 2025

Abstract Introduction Hereditary breast and ovarian cancer (HBOC) is driven by mutations in BRCA1/2 related genes. Their understanding vital to appropriate management of such patients at-risk families, including counselling genetic testing. Several important recent advances have made it necessary revise the previous recommendations we for India 2020. Methods This consensus document was developed with authors as key experts field. Published evidence, real-world data, expert interpretation were used a modified Delphi method finalize these recommendations. Results Detailed description process identifying at risk, doing their counselling, selecting right molecular test, interpreting results, determining optimal mode action attenuate risk HOBC or its recurrence been provided clear lucid manner. Differences between germline somatic are described. Information from publicly available databases fine-tune guidelines—as more information had becomes since time writing first guidelines. Risk various types corresponding reduction strategies explained. Conclusion Community oncologists India, SAARC region, other low- middle-income countries should use guidelines clinical practice optimize testing, HBOC.

Language: Английский

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Robust assessment of HRD genomic instability by OncoScan microarrays

Journal of Molecular Diagnostics, Journal Year: 2025, Volume and Issue: unknown

Published: April 1, 2025

Genomic instability scars are markers for detecting homologous recombination deficiency status in ovarian cancer patients and predicting the response to PARP inhibitor treatment. Currently, only a few reliable validated assays available, with Myriad myChoice CDx being most commonly used commercial assay genomic scar score determination; given need more straightforward, accessible, method methods. In this work we describe feasibility of using microarray OncoScan CNV open-source software packages quantify scores, development an open-access online platform calculation. Our laboratory-developed test accurately classified recombination-proficient recombination-deficient samples based on scores derived from Oncoscan assay. Internally evaluated demonstrated 92% overall agreement higher sample success rate compared externally analyzed scores. The availability HRD determination has doubled number eligible therapy. can be conveniently performed individual samples, facilitates without specialized bioinformatics support.

Language: Английский

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Homologous Recombination Deficiency (HRD) Scoring, by Means of Two Different Shallow Whole-Genome Sequencing Pipelines (sWGS), in Ovarian Cancer Patients: A Comparison with Myriad MyChoice Assay

International Journal of Molecular Sciences, Journal Year: 2023, Volume and Issue: 24(23), P. 17095 - 17095

Published: Dec. 4, 2023

High-grade serous ovarian cancer (HGSOC) patients carrying the BRCA1/2 mutation or deficient in homologous recombination repair system (HRD) generally benefit from treatment with PARP inhibitors. Some international recommendations suggest that genetic testing should be offered for all newly diagnosed epithelial cancer, along HRD assessment. Academic tests (ATs) are continuously under development, order to break down barriers encounter accessing testing. Two different methods shallow whole-genome sequencing (sWGS) were compared reference assay, Myriad. All these three assays performed on 20 retrospective HGSOC samples. Moreover, results correlated progression-free survival rate (PFS). Both sWGS chemistries showed good correlation each other and a complete agreement, even when Myriad score. Our academic assay categorized as HRD-Deficient, HRM-Mild HRN-Negative. These groups matched PFS, providing interesting findings terms of scoring months survival. our test patient's response treatments. Finally, AT confirms its capability determining status, advantage being faster, cheaper, easier carry out. prognostic value

Language: Английский

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The Molecular Detection of Germline Mutations in the BRCA1 and BRCA2 Genes Associated with Breast and Ovarian Cancer in a Romanian Cohort of 616 Patients

Current Issues in Molecular Biology, Journal Year: 2024, Volume and Issue: 46(5), P. 4630 - 4645

Published: May 12, 2024

The objective of this study was to identify and classify the spectrum mutations found in BRCA1 BRCA2 genes associated with breast ovarian cancer female patients Romania. Germline were investigated a cohort 616 using NGS and/or MLPA methods followed by software-based data analysis classification according international guidelines. Out included study, we that 482 (78.2%) did not have any mutation present two investigated; 69 (11.2%) had mutation, 34 (5.5%) 31 (5%) presented different type uncertain clinical significance, moderate risk or large gene. Our investigation indicates most common genes, Romanian population. results also bring more support frequency c.5266 gene, acknowledged literature as founder Eastern Europe. We consider our will provide necessary regarding would help create genetic database for

Language: Английский

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