TY - JOUR

T1 - Genetic counselling and testing of susceptibility genes for therapeutic decision-making in breast cancer - an European consensus statement and expert recommendations

AU - Singer, Christian F

AU - Balmaña, Judith

AU - Bürki, Nicole

AU - Delaloge, Suzette

AU - Filieri, Maria Elisabetta

AU - Gerdes, Anna-Marie

AU - Grindedal, Eli Marie

AU - Han, Sileni

AU - Johansson, Oskar

AU - Kaufman, Bella

AU - Krajc, Mateja

AU - Loman, Niklas

AU - Olah, Edith

AU - Paluch-Shimon, Shani

AU - Plavetic, Natalija Dedic

AU - Pohlodek, Kamil

AU - Rhiem, Kerstin

AU - Teixeira, Manuel

AU - Evans, D Gareth

PY - 2019

Y1 - 2019

N2 - 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.

AB - 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.

KW - BRCA1 Protein/genetics

KW - BRCA2 Protein/genetics

KW - Biomarkers, Tumor/genetics

KW - Breast Neoplasms/genetics

KW - Consensus

KW - Direct-To-Consumer Screening and Testing

KW - Early Detection of Cancer

KW - Female

KW - Genetic Counseling

KW - Genetic Predisposition to Disease

KW - Genetic Testing

KW - Heredity

KW - Humans

KW - Molecular Targeted Therapy

KW - Mutation

KW - Pedigree

KW - Phenotype

KW - Precision Medicine

KW - Predictive Value of Tests

KW - Reproducibility of Results

KW - Risk Assessment

KW - Risk Factors

U2 - 10.1016/j.ejca.2018.10.007

DO - 10.1016/j.ejca.2018.10.007

M3 - Journal article

C2 - 30471648

VL - 106

SP - 54

EP - 60

JO - European Journal of Cancer, Supplement

JF - European Journal of Cancer, Supplement

SN - 0959-8049

ER -