Guidance Statement On BRCA1/2 Tumor Testing in Ovarian Cancer Patients

Ettore Capoluongo; Gillian Ellison; José Antonio López-Guerrero; Frederique Penault-Llorca; Marjolijn J L Ligtenberg; Susana Banerjee; Christian Singer; Eitan Friedman; Birgid Markiefka; Peter Schirmacher; Reinhard Büttner; Christi J van Asperen; Isabelle Ray-Coquard; Volker Endris; Suzanne Kamel-Reid; Natalie Percival; Jane Bryce; Benno Röthlisberger; Richie Soong; David Gonzalez de Castro

doi:10.1053/j.seminoncol.2017.08.004

Guidance Statement On BRCA1/2 Tumor Testing in Ovarian Cancer Patients

Ettore Capoluongo, Gillian Ellison, José Antonio López-Guerrero, Frederique Penault-Llorca, Marjolijn J L Ligtenberg, Susana Banerjee, Christian Singer, Eitan Friedman, Birgid Markiefka, Peter Schirmacher, Reinhard Büttner, Christi J van Asperen, Isabelle Ray-Coquard, Volker Endris, Suzanne Kamel-Reid, Natalie Percival, Jane Bryce, Benno Röthlisberger, Richie Soong, David Gonzalez de Castro

School of Medicine, Dentistry and Biomedical Sciences

Research output: Contribution to journal › Review article › peer-review

44 Citations (Scopus)

320 Downloads (Pure)

Abstract

The approval, in 2015, of the first poly (adenosine diphosphate-ribose) polymerase inhibitor (PARPi; olaparib, Lynparza) for platinum-sensitive relapsed high-grade ovarian cancer with either germline or somatic BRCA1/2 deleterious mutations is changing the way that BRCA1/2 testing services are offered to patients with ovarian cancer. Ovarian cancer patients are now being referred for BRCA1/2 genetic testing for treatment decisions, in addition to familial risk estimation, and irrespective of a family history of breast or ovarian cancer. Furthermore, testing of tumor samples to identify the estimated 3%-9% of patients with somatic BRCA1/2 mutations who, in addition to germline carriers, could benefit from PARPi therapy is also now being considered. This new testing paradigm poses some challenges, in particular the technical and analytical difficulties of analyzing chemically challenged DNA derived from formalin-fixed, paraffin-embedded specimens. The current manuscript reviews some of these challenges and technical recommendations to consider when undertaking BRCA1/2 testing in tumor tissue samples to detect both germline and somatic BRCA1/2 mutations. Also provided are considerations for incorporating genetic analysis of ovarian tumor samples into the patient pathway and ethical requirements.

Original language	English
Pages (from-to)	187-197
Number of pages	11
Journal	Seminars in Oncology
Volume	44
Issue number	3
DOIs	https://doi.org/10.1053/j.seminoncol.2017.08.004
Publication status	Published - 01 Jun 2017

Keywords

BRCA1 Protein
BRCA2 Protein
Female
Genetic Testing
Germ-Line Mutation
Hereditary Breast and Ovarian Cancer Syndrome
Humans
Ovarian Neoplasms
Phthalazines
Piperazines
Poly(ADP-ribose) Polymerase Inhibitors
Practice Guidelines as Topic
Journal Article
Review

UN SDGs

This output contributes to the following Sustainable Development Goal(s)

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Guidance Statement On BRCA1/2 Tumor Testing in Ovarian Cancer PatientS
Copyright 2018 the authors. This is an open access article published under a Creative Commons Attribution-NonCommercial-NoDerivs License (https://creativecommons.org/licenses/by-nc-nd/4.0/), which permits distribution and reproduction for non-commercial purposes, provided the author and source are cited.
Final published version, 506 KBLicence: CC BY-NC-ND

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Capoluongo, E., Ellison, G., López-Guerrero, J. A., Penault-Llorca, F., Ligtenberg, M. J. L., Banerjee, S., Singer, C., Friedman, E., Markiefka, B., Schirmacher, P., Büttner, R., van Asperen, C. J., Ray-Coquard, I., Endris, V., Kamel-Reid, S., Percival, N., Bryce, J., Röthlisberger, B., Soong, R., & de Castro, D. G. (2017). Guidance Statement On BRCA1/2 Tumor Testing in Ovarian Cancer Patients. Seminars in Oncology, 44(3), 187-197. https://doi.org/10.1053/j.seminoncol.2017.08.004

Capoluongo, Ettore ; Ellison, Gillian ; López-Guerrero, José Antonio ; Penault-Llorca, Frederique ; Ligtenberg, Marjolijn J L ; Banerjee, Susana ; Singer, Christian ; Friedman, Eitan ; Markiefka, Birgid ; Schirmacher, Peter ; Büttner, Reinhard ; van Asperen, Christi J ; Ray-Coquard, Isabelle ; Endris, Volker ; Kamel-Reid, Suzanne ; Percival, Natalie ; Bryce, Jane ; Röthlisberger, Benno ; Soong, Richie ; de Castro, David Gonzalez. / Guidance Statement On BRCA1/2 Tumor Testing in Ovarian Cancer Patients. In: Seminars in Oncology. 2017 ; Vol. 44, No. 3. pp. 187-197.

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abstract = "The approval, in 2015, of the first poly (adenosine diphosphate-ribose) polymerase inhibitor (PARPi; olaparib, Lynparza) for platinum-sensitive relapsed high-grade ovarian cancer with either germline or somatic BRCA1/2 deleterious mutations is changing the way that BRCA1/2 testing services are offered to patients with ovarian cancer. Ovarian cancer patients are now being referred for BRCA1/2 genetic testing for treatment decisions, in addition to familial risk estimation, and irrespective of a family history of breast or ovarian cancer. Furthermore, testing of tumor samples to identify the estimated 3%-9% of patients with somatic BRCA1/2 mutations who, in addition to germline carriers, could benefit from PARPi therapy is also now being considered. This new testing paradigm poses some challenges, in particular the technical and analytical difficulties of analyzing chemically challenged DNA derived from formalin-fixed, paraffin-embedded specimens. The current manuscript reviews some of these challenges and technical recommendations to consider when undertaking BRCA1/2 testing in tumor tissue samples to detect both germline and somatic BRCA1/2 mutations. Also provided are considerations for incorporating genetic analysis of ovarian tumor samples into the patient pathway and ethical requirements.",

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Capoluongo, E, Ellison, G, López-Guerrero, JA, Penault-Llorca, F, Ligtenberg, MJL, Banerjee, S, Singer, C, Friedman, E, Markiefka, B, Schirmacher, P, Büttner, R, van Asperen, CJ, Ray-Coquard, I, Endris, V, Kamel-Reid, S, Percival, N, Bryce, J, Röthlisberger, B, Soong, R & de Castro, DG 2017, 'Guidance Statement On BRCA1/2 Tumor Testing in Ovarian Cancer Patients', Seminars in Oncology, vol. 44, no. 3, pp. 187-197. https://doi.org/10.1053/j.seminoncol.2017.08.004

Guidance Statement On BRCA1/2 Tumor Testing in Ovarian Cancer Patients. / Capoluongo, Ettore; Ellison, Gillian; López-Guerrero, José Antonio; Penault-Llorca, Frederique; Ligtenberg, Marjolijn J L; Banerjee, Susana; Singer, Christian; Friedman, Eitan; Markiefka, Birgid; Schirmacher, Peter; Büttner, Reinhard; van Asperen, Christi J; Ray-Coquard, Isabelle; Endris, Volker; Kamel-Reid, Suzanne; Percival, Natalie; Bryce, Jane; Röthlisberger, Benno; Soong, Richie; de Castro, David Gonzalez.

In: Seminars in Oncology, Vol. 44, No. 3, 01.06.2017, p. 187-197.

Research output: Contribution to journal › Review article › peer-review

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AU - Capoluongo, Ettore

AU - Ellison, Gillian

AU - López-Guerrero, José Antonio

AU - Penault-Llorca, Frederique

AU - Ligtenberg, Marjolijn J L

AU - Banerjee, Susana

AU - Singer, Christian

AU - Friedman, Eitan

AU - Markiefka, Birgid

AU - Schirmacher, Peter

AU - Büttner, Reinhard

AU - van Asperen, Christi J

AU - Ray-Coquard, Isabelle

AU - Endris, Volker

AU - Kamel-Reid, Suzanne

AU - Percival, Natalie

AU - Bryce, Jane

AU - Röthlisberger, Benno

AU - Soong, Richie

AU - de Castro, David Gonzalez

PY - 2017/6/1

Y1 - 2017/6/1

N2 - The approval, in 2015, of the first poly (adenosine diphosphate-ribose) polymerase inhibitor (PARPi; olaparib, Lynparza) for platinum-sensitive relapsed high-grade ovarian cancer with either germline or somatic BRCA1/2 deleterious mutations is changing the way that BRCA1/2 testing services are offered to patients with ovarian cancer. Ovarian cancer patients are now being referred for BRCA1/2 genetic testing for treatment decisions, in addition to familial risk estimation, and irrespective of a family history of breast or ovarian cancer. Furthermore, testing of tumor samples to identify the estimated 3%-9% of patients with somatic BRCA1/2 mutations who, in addition to germline carriers, could benefit from PARPi therapy is also now being considered. This new testing paradigm poses some challenges, in particular the technical and analytical difficulties of analyzing chemically challenged DNA derived from formalin-fixed, paraffin-embedded specimens. The current manuscript reviews some of these challenges and technical recommendations to consider when undertaking BRCA1/2 testing in tumor tissue samples to detect both germline and somatic BRCA1/2 mutations. Also provided are considerations for incorporating genetic analysis of ovarian tumor samples into the patient pathway and ethical requirements.

AB - The approval, in 2015, of the first poly (adenosine diphosphate-ribose) polymerase inhibitor (PARPi; olaparib, Lynparza) for platinum-sensitive relapsed high-grade ovarian cancer with either germline or somatic BRCA1/2 deleterious mutations is changing the way that BRCA1/2 testing services are offered to patients with ovarian cancer. Ovarian cancer patients are now being referred for BRCA1/2 genetic testing for treatment decisions, in addition to familial risk estimation, and irrespective of a family history of breast or ovarian cancer. Furthermore, testing of tumor samples to identify the estimated 3%-9% of patients with somatic BRCA1/2 mutations who, in addition to germline carriers, could benefit from PARPi therapy is also now being considered. This new testing paradigm poses some challenges, in particular the technical and analytical difficulties of analyzing chemically challenged DNA derived from formalin-fixed, paraffin-embedded specimens. The current manuscript reviews some of these challenges and technical recommendations to consider when undertaking BRCA1/2 testing in tumor tissue samples to detect both germline and somatic BRCA1/2 mutations. Also provided are considerations for incorporating genetic analysis of ovarian tumor samples into the patient pathway and ethical requirements.

KW - BRCA1 Protein

KW - BRCA2 Protein

KW - Female

KW - Genetic Testing

KW - Germ-Line Mutation

KW - Hereditary Breast and Ovarian Cancer Syndrome

KW - Humans

KW - Ovarian Neoplasms

KW - Phthalazines

KW - Piperazines

KW - Poly(ADP-ribose) Polymerase Inhibitors

KW - Practice Guidelines as Topic

KW - Journal Article

KW - Review

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DO - 10.1053/j.seminoncol.2017.08.004

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EP - 197

JO - Seminars in Oncology

JF - Seminars in Oncology

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