Genetic Counseling, Testing, and Management of HBOC in India: An Expert Consensus Document from Indian Society of Medical and Pediatric Oncology.

Autor:	Malhotra H; Department of Medical Oncology, Sri Ram Cancer Center, Mahatma Gandhi Medical College Hospital, Jaipur, India., Kowtal P; Sarin Laboratory and OIC Sanger Sequencing Facility, Advanced Centre for Treatment Research, and Education in Cancer, Navi Mumbai, India., Mehra N; Department of Medical Oncology, Cancer Institute (WIA), Chennai, India., Pramank R; Department of Medical Oncology, All India Institute of Medical Sciences, New Delhi, India., Sarin R; Radiation Oncology, Cancer Genetics Unit, Tata Memorial Centre and PI Sarin Laboratory, Advanced Centre for Treatment Research and Education in Cancer, Navi Mumbai, India., Rajkumar T; Department of Molecular Oncology, Cancer Institute (WIA), Chennai, India., Gupta S; Tata Memorial Centre Advanced Centre for Treatment, Research, and Education in Cancer, Navi Mumbai, India., Bapna A; Department of Medical Oncology, Bhagwan Mahavir Cancer Hospital Research Center, Jaipur, India., Bhattacharyya GS; Fortis Hospital, Kolkata, India., Gupta S; Department of Gynae Oncology, Medanta-The Medicity, Gurgaon, India., Maheshwari A; Department of Gynecologic Oncology, Tata Memorial Centre, Mumbai, India., Mannan AU; Clinical Diagnostics, Strand Center for Genomics and Personalized Medicine, Strand Life Sciences, Bangalore, India., Reddy Kundur R; Cancer Genetics Clinic, Tata Memorial Centre, Mumbai, India., Sekhon R; Gynae Oncology, Rajiv Gandhi Cancer Institute and Research Centre, New Delhi, India., Singhal M; Medical Oncology, Apollo Hospital, New Delhi, India., Smruti BK; Bombay Hospital and Medical Research Centre, Mumbai, India., Sp S; Manipal Comprehensive Cancer Center, Manipal Hospital, Bengaluru, India., Suryavanshi M; Molecular Diagnostics, Rajiv Gandhi Cancer Institute and Research Centre, New Delhi, India., Verma A; Molecular Oncology and Cancer Genetics, Max Hospital, New Delhi, India.
Jazyk:	angličtina
Zdroj:	JCO global oncology [JCO Glob Oncol] 2020 Jul; Vol. 6, pp. 991-1008.
DOI:	10.1200/JGO.19.00381
Abstrakt:	Purpose: Hereditary breast and ovarian cancer (HBOC) syndrome is primarily characterized by mutations in the BRCA1/2 genes. There are several barriers to the implementation of genetic testing and counseling in India that may affect clinical decisions. These consensus recommendations were therefore convened as a collaborative effort to improve testing and management of HBOC in India. Design: Recommendations were developed by a multidisciplinary group of experts from the Indian Society of Medical and Pediatric Oncology and some invited experts on the basis of graded evidence from the literature and using a formal Delphi process to help reach consensus. PubMed and Google Scholar databases were searched to source relevant articles. Results: This consensus statement provides practical insight into identifying patients who should undergo genetic counseling and testing on the basis of assessments of family and ancestry and personal history of HBOC. It discusses the need and significance of genetic counselors and medical professionals who have the necessary expertise in genetic counseling and testing. Recommendations elucidate requirements of pretest counseling, including discussions on genetic variants of uncertain significance and risk reduction options. The group of experts recommended single-site mutation testing in families with a known mutation and next-generation sequencing coupled with multiplex ligation probe amplification for the detection of large genomic rearrangements for unknown mutations. Recommendations for surgical and lifestyle-related risk reduction approaches and management using poly (ADP-ribose) polymerase inhibitors are also detailed. Conclusion: With rapid strides being made in the field of genetic testing/counseling in India, more oncologists are expected to include genetic testing/counseling as part of their clinical practice. These consensus recommendations are anticipated to help homogenize genetic testing and management of HBOC in India for improved patient care.
Databáze:	MEDLINE
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