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Sökning: onr:"swepub:oai:lup.lub.lu.se:de1ade39-886e-48a1-9a03-31f2f9e6dc23" > Genetic counselling...

Genetic counselling and testing of susceptibility genes for therapeutic decision-making in breast cancer—an European consensus statement and expert recommendations

Singer, Christian F. (författare)
Medical University of Vienna
Balmaña, Judith (författare)
Vall d'Hebron University Hospital,Autonomous University of Barcelona
Bürki, Nicole (författare)
University Hospital Basel
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Delaloge, Suzette (författare)
Institut Gustave Roussy
Filieri, Maria Elisabetta (författare)
University Hospital of Modena
Gerdes, Anna Marie (författare)
Copenhagen University Hospital
Grindedal, Eli Marie (författare)
Oslo university hospital
Han, Sileni (författare)
University Hospitals Leuven
Johansson, Oskar (författare)
National University Hospital of Iceland
Kaufman, Bella (författare)
Sheba Medical Center
Krajc, Mateja (författare)
Institute of Oncology, Ljubljana
Loman, Niklas (författare)
Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,Skåne University Hospital
Olah, Edith (författare)
National Institute of Oncology, Budapest
Paluch-Shimon, Shani (författare)
Shaare Zedek Medical Center
Plavetic, Natalija Dedic (författare)
University Hospital Centre Zagreb,University of Zagreb
Pohlodek, Kamil (författare)
Comenius University
Rhiem, Kerstin (författare)
University Hospital of Cologne
Teixeira, Manuel (författare)
Instituto Português de Oncologia do Porto Francisco Gentil (IPO)
Evans, D. Gareth (författare)
University of Manchester,St. Mary’s Hospital, Manchester
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Elsevier, 2019
Engelska 7 s.
Ingår i: European Journal of Cancer. - : Elsevier. - 0959-8049. ; 106, s. 54-60
  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
  • 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.


MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine (hsv//eng)


Genetic counselling
Genetic testing
Hereditary breast cancer
Metastatic breast cancer

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