Universität zu Köln

Capoluongo, Ettore, Ellison, Gillian, Antonio Lopez-Guerrero, Jose, Penault-Llorca, Frederique, Ligtenberg, Marjolijn J. L., Banerjee, Susana, Singer, Christian, Friedman, Eitan, Markiefka, Birgid, Schirmacher, Peter, Buttner, Reinhard, van Asperen, Christi J., Ray-Coquard, Isabelle, Endris, Volker, Kamel-Reid, Suzanne ORCID: 0000-0002-4386-0292, Percival, Natalie, Bryce, Jane, Rothlisberger, Benno, Soong, Richie and de Castro, David Gonzalez (2017). Guidance Statement On BRCA1/2 Tumor Testing in Ovarian Cancer Patients. Semin. Oncol., 44 (3). S. 187 - 198. PHILADELPHIA: W B SAUNDERS CO-ELSEVIER INC. ISSN 1532-8708

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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. (C) 2017 The Authors. Published by Elsevier Inc.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Capoluongo, Ettore UNSPECIFIED UNSPECIFIED UNSPECIFIED Ellison, Gillian UNSPECIFIED UNSPECIFIED UNSPECIFIED Antonio Lopez-Guerrero, Jose UNSPECIFIED UNSPECIFIED UNSPECIFIED Penault-Llorca, Frederique UNSPECIFIED UNSPECIFIED UNSPECIFIED Ligtenberg, Marjolijn J. L. UNSPECIFIED UNSPECIFIED UNSPECIFIED Banerjee, Susana UNSPECIFIED UNSPECIFIED UNSPECIFIED Singer, Christian UNSPECIFIED UNSPECIFIED UNSPECIFIED Friedman, Eitan UNSPECIFIED UNSPECIFIED UNSPECIFIED Markiefka, Birgid UNSPECIFIED UNSPECIFIED UNSPECIFIED Schirmacher, Peter UNSPECIFIED UNSPECIFIED UNSPECIFIED Buttner, Reinhard UNSPECIFIED UNSPECIFIED UNSPECIFIED van Asperen, Christi J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Ray-Coquard, Isabelle UNSPECIFIED UNSPECIFIED UNSPECIFIED Endris, Volker UNSPECIFIED UNSPECIFIED UNSPECIFIED Kamel-Reid, Suzanne UNSPECIFIED orcid.org/0000-0002-4386-0292 UNSPECIFIED Percival, Natalie UNSPECIFIED UNSPECIFIED UNSPECIFIED Bryce, Jane UNSPECIFIED UNSPECIFIED UNSPECIFIED Rothlisberger, Benno UNSPECIFIED UNSPECIFIED UNSPECIFIED Soong, Richie UNSPECIFIED UNSPECIFIED UNSPECIFIED de Castro, David Gonzalez UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-230213
DOI:	10.1053/j.seminoncol.2017.08.004
Journal or Publication Title:	Semin. Oncol.
Volume:	44
Number:	3
Page Range:	S. 187 - 198
Date:	2017
Publisher:	W B SAUNDERS CO-ELSEVIER INC
Place of Publication:	PHILADELPHIA
ISSN:	1532-8708
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language HEREDITARY BREAST; SOMATIC MUTATIONS; POLYMERASE INHIBITORS; FALLOPIAN-TUBE; SURVIVAL; WOMEN; RECOMMENDATIONS; RESISTANCE; IDENTIFICATION; OPPORTUNITIES Multiple languages Oncology Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/23021