Literature DB >> 30471648

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

Christian F Singer1, Judith Balmaña2, Nicole Bürki3, Suzette Delaloge4, Maria Elisabetta Filieri5, Anna-Marie Gerdes6, Eli Marie Grindedal7, Sileni Han8, Oskar Johansson9, Bella Kaufman10, Mateja Krajc11, Niklas Loman12, Edith Olah13, Shani Paluch-Shimon14, Natalija Dedic Plavetic15, Kamil Pohlodek16, Kerstin Rhiem17, Manuel Teixeira18, D Gareth Evans19.   

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.
Copyright © 2018 The Authors. Published by Elsevier Ltd.. All rights reserved.

Entities:  

Keywords:  BRCA; BRCA1; BRCA2; Genetic counselling; Genetic testing; Hereditary breast cancer; Metastatic breast cancer

Mesh:

Substances:

Year:  2018        PMID: 30471648     DOI: 10.1016/j.ejca.2018.10.007

Source DB:  PubMed          Journal:  Eur J Cancer        ISSN: 0959-8049            Impact factor:   9.162


  7 in total

1.  Clinical and analytical validation of FoundationOne®CDx, a comprehensive genomic profiling assay for solid tumors.

Authors:  Coren A Milbury; James Creeden; Wai-Ki Yip; David L Smith; Varun Pattani; Kristi Maxwell; Bethany Sawchyn; Ole Gjoerup; Wei Meng; Joel Skoletsky; Alvin D Concepcion; Yanhua Tang; Xiaobo Bai; Ninad Dewal; Pei Ma; Shannon T Bailey; James Thornton; Dean C Pavlick; Garrett M Frampton; Daniel Lieber; Jared White; Christine Burns; Christine Vietz
Journal:  PLoS One       Date:  2022-03-16       Impact factor: 3.240

2.  Breast Cancer Survivorship Programme: Follow-Up, Rehabilitation, Psychosocial Oncology Care. 1st Central-Eastern European Professional Consensus Statement on Breast Cancer.

Authors:  Zsuzsanna Kahán; István Szántó; Rita Dudás; Zsuzsanna Kapitány; Mária Molnár; Zsuzsa Koncz; Mónika Mailáth
Journal:  Pathol Oncol Res       Date:  2022-06-02       Impact factor: 2.874

3.  Genetic Counseling, Screening and Risk-Reducing Surgery in Patients with Primary Breast Cancer and Germline BRCA Mutations: Unmet Needs in Low- and Middle-Income Countries.

Authors:  Hiba A Moukadem; Ahmad Al Masry; Rula W Atwani; Firas Kreidieh; Lana E Khalil; Rita Saroufim; Sarah Daouk; Iman Abou Dalle; Nagi S El Saghir
Journal:  Eur J Breast Health       Date:  2021-12-30

4.  The BRCA1 c.4096+3A>G Variant Displays Classical Characteristics of Pathogenic BRCA1 Mutations in Hereditary Breast and Ovarian Cancers, But Still Allows Homozygous Viability.

Authors:  Adalgeir Arason; Bjarni A Agnarsson; Gudrun Johannesdottir; Oskar Th Johannsson; Bylgja Hilmarsdottir; Inga Reynisdottir; Rosa B Barkardottir
Journal:  Genes (Basel)       Date:  2019-11-01       Impact factor: 4.096

Review 5.  Molecular genetic testing strategies used in diagnostic flow for hereditary endocrine tumour syndromes.

Authors:  Henriett Butz; Jo Blair; Attila Patócs
Journal:  Endocrine       Date:  2021-02-11       Impact factor: 3.633

6.  Educational Programme for Cancer Nurses in Genetics, Health Behaviors and Cancer Prevention: A Multidisciplinary Consensus Study.

Authors:  Celia Diez de Los Rios de la Serna; Paz Fernández-Ortega; Teresa Lluch-Canut
Journal:  J Pers Med       Date:  2022-07-05

7.  Metabolomic analysis of plasma from breast tumour patients. A pilot study.

Authors:  Carola Politi; Claudia Fattuoni; Alessandra Serra; Antonio Noto; Silvia Loi; Andrea Casanova; Gavino Faa; Alberto Ravarino; Luca Saba
Journal:  J Public Health Res       Date:  2021-05-25
  7 in total

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