Universität zu Köln

Singer, Christian F., Balmana, Judith ORCID: 0000-0002-0762-6415, Burki, Nicole, Delaloge, Suzette ORCID: 0000-0003-2106-9165, Filieri, Maria Elisabetta, Gerdes, Anna-Marie, Grindedal, Eli Marie, Han, Sileni, Johansson, Oskar, Kaufman, Bella, Krajc, Mateja, Loman, Niklas, Olah, Edith, Paluch-Shimon, Shani, Plavetic, Natalija Dedic, Pohlodek, Kamil, Rhiem, Kerstin, Teixeira, Manuel ORCID: 0000-0002-4896-5982 and Evans, D. Gareth (2019). Genetic counselling and testing of susceptibility genes for therapeutic decision-making in breast cancer-an European consensus statement and expert recommendations. Eur. J. Cancer, 106. S. 54 - 61. OXFORD: ELSEVIER SCI LTD. ISSN 1879-0852

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Abstract

An international panel of experts representing 17 European countries and Israel convened to discuss current needs and future developments in BRCA testing and counselling and to issue consensus recommendations. The experts agreed that, with the increasing availability of high-throughput testing platforms and the registration of poly-ADP-ribose-polymerase inhibitors, the need for genetic counselling and testing will rapidly increase in the near future. Consequently, the already existing shortage of genetic counsellors is expected to worsen and to compromise the quality of care particularly in individuals and families with suspected or proven hereditary breast or ovarian cancer. Increasing educational efforts within the breast cancer caregiver community may alleviate this limitation by enabling all involved specialities to perform genetic counselling. In the therapeutic setting, for patients with a clinical suspicion of genetic susceptibility and if the results may have an immediate impact on the therapeutic strategy, the majority voted that BRCA1/2 testing should be performed after histological diagnosis of breast cancer, regardless of oestrogen receptor and human epidermal growth factor receptor 2 (HER2) status. Experts also agreed that, in the predictive and therapeutic setting, genetic testing should be limited to individuals with a personal or family history suggestive of a BRCA1/2 pathogenic variant and should also include high-risk actionable genes beyond BRCA1/2. Of high-risk actionable genes, all pathological variants (i.e. class IV and V) should be reported; class III variants of unknown significance, should be reported provided that the current lack of clinical utility of the variant is expressly stated. Genetic counselling should always address the possibility that already tested individuals might be re-contacted in case new information on a particular variant results in a re-classification. (C) 2018 The Authors. Published by Elsevier Ltd.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Singer, Christian F. UNSPECIFIED UNSPECIFIED UNSPECIFIED Balmana, Judith UNSPECIFIED orcid.org/0000-0002-0762-6415 UNSPECIFIED Burki, Nicole UNSPECIFIED UNSPECIFIED UNSPECIFIED Delaloge, Suzette UNSPECIFIED orcid.org/0000-0003-2106-9165 UNSPECIFIED Filieri, Maria Elisabetta UNSPECIFIED UNSPECIFIED UNSPECIFIED Gerdes, Anna-Marie UNSPECIFIED UNSPECIFIED UNSPECIFIED Grindedal, Eli Marie UNSPECIFIED UNSPECIFIED UNSPECIFIED Han, Sileni UNSPECIFIED UNSPECIFIED UNSPECIFIED Johansson, Oskar UNSPECIFIED UNSPECIFIED UNSPECIFIED Kaufman, Bella UNSPECIFIED UNSPECIFIED UNSPECIFIED Krajc, Mateja UNSPECIFIED UNSPECIFIED UNSPECIFIED Loman, Niklas UNSPECIFIED UNSPECIFIED UNSPECIFIED Olah, Edith UNSPECIFIED UNSPECIFIED UNSPECIFIED Paluch-Shimon, Shani UNSPECIFIED UNSPECIFIED UNSPECIFIED Plavetic, Natalija Dedic UNSPECIFIED UNSPECIFIED UNSPECIFIED Pohlodek, Kamil UNSPECIFIED UNSPECIFIED UNSPECIFIED Rhiem, Kerstin UNSPECIFIED UNSPECIFIED UNSPECIFIED Teixeira, Manuel UNSPECIFIED orcid.org/0000-0002-4896-5982 UNSPECIFIED Evans, D. Gareth UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-140922
DOI:	10.1016/j.ejca.2018.10.007
Journal or Publication Title:	Eur. J. Cancer
Volume:	106
Page Range:	S. 54 - 61
Date:	2019
Publisher:	ELSEVIER SCI LTD
Place of Publication:	OXFORD
ISSN:	1879-0852
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language GUIDELINES; BRCA2; MUTATIONS; MASTECTOMY; CARRIERS; RISK Multiple languages Oncology Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/14092