Clinical practice guidelines for BRCA1 and BRCA2 genetic testing

BRCA1 and BRCA2 gene pathogenic variants account for most hereditary breast cancer and are increasingly used to determine eligibility for PARP inhibitor (PARPi) therapy of BRCA-related cancer. Because issues of BRCA testing in clinical practice now overlap with both preventive and therapeutic manage...

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Vydáno v:European journal of cancer (1990) Ročník 146; s. 30 - 47
Hlavní autoři: Pujol, Pascal, Barberis, Massimo, Beer, Philp, Friedman, Eitan, Piulats, Josep M., Capoluongo, Ettore D., Garcia Foncillas, Jesus, Ray-Coquard, Isabelle, Penault-Llorca, Frédérique, Foulkes, William D., Turnbull, Clare, Hanson, Helen, Narod, Steven, Arun, Banu K., Aapro, Matti S., Mandel, Jean-Louis, Normanno, Nicola, Lambrechts, Diether, Vergote, Ignace, Anahory, Michèle, Baertschi, Bernard, Baudry, Karen, Bignon, Yves-Jean, Bollet, Marc, Corsini, Carole, Cussenot, Olivier, De la Motte Rouge, Thibault, Duboys de Labarre, Marie, Duchamp, Florence, Duriez, Clarisse, Fizazi, Karim, Galibert, Virginie, Gladieff, Laurence, Gligorov, Joseph, Hammel, Pascal, Imbert-Bouteille, Marion, Jacot, William, Kogut-Kubiak, Tatiana, Lamy, Pierre-Jean, Nambot, Sophie, Neuzillet, Yann, Olschwang, Sylviane, Rebillard, Xavier, Rey, Jean-Marc, Rideau, Chloé, Spano, Jean-Philippe, Thomas, Frédéric, Treilleux, Isabelle, Vandromme, Marion, Vendrell, Julie, Vintraud, Michèle, Zarca, Daniel, Hughes, Kevin S., Alés Martínez, Jose E.
Médium: Journal Article
Jazyk:angličtina
Vydáno: England Elsevier Ltd 01.03.2021
Elsevier Science Ltd
Elsevier
Témata:
BRCA-related cancer
BRCA1 and BRCA2 testing
BRCA1 Protein
BRCA1 Protein - genetics
BRCA2 Protein
BRCA2 Protein - genetics
Breast cancer
Breast Neoplasms
Breast Neoplasms - diagnosis
Breast Neoplasms - genetics
Cancer
Clinical medicine
Clinical practice guidelines
Customization
Female
Genetic counseling
Genetic screening
Genetic Testing
Genetic Testing - methods
Genotyping
Germ-Line Mutation
Guidelines
Humans
Life Sciences
Literature reviews
Metastases
Ovarian Neoplasms
Ovarian Neoplasms - diagnosis
Ovarian Neoplasms - genetics
PARP inhibitors
Poly(ADP-ribose) polymerase
Practice Guidelines as Topic
Practice Guidelines as Topic - standards
Precision medicine
Risk assessment
Tumors
BRCA-related cancer
BRCA1 and BRCA2 testing
PARP inhibitors
Guidelines
ISSN:0959-8049, 1879-0852, 1879-0852
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Abstract BRCA1 and BRCA2 gene pathogenic variants account for most hereditary breast cancer and are increasingly used to determine eligibility for PARP inhibitor (PARPi) therapy of BRCA-related cancer. Because issues of BRCA testing in clinical practice now overlap with both preventive and therapeutic management, updated and comprehensive practice guidelines for BRCA genotyping are needed. The integrative recommendations for BRCA testing presented here aim to (1) identify individuals who may benefit from genetic counselling and risk-reducing strategies; (2) update germline and tumour-testing indications for PARPi-approved therapies; (3) provide testing recommendations for personalised management of early and metastatic breast cancer; and (4) address the issues of rapid process and tumour analysis. An international group of experts, including geneticists, medical and surgical oncologists, pathologists, ethicists and patient representatives, was commissioned by the French Society of Predictive and Personalised Medicine (SFMPP). The group followed a methodology based on specific formal guidelines development, including (1) evaluating the likelihood of BRCAm from a combined systematic review of the literature, risk assessment models and expert quotations, and (2) therapeutic values of BRCAm status for PARPi therapy in BRCA-related cancer and for management of early and advanced breast cancer. These international guidelines may help clinicians comprehensively update and standardise BRCA testing practices. •Provide update clinical recommendations for BRCA testing for preventive purpose.•Offer testing clinical guidelines for personalised management of early and metatstatic breast cancer.•Actualize germline and tumor testing indications for PARPi-approved therapies.•Address the issues of rapid process and tumor analysis.
AbstractList BRCA1 and BRCA2 gene pathogenic variants account for most hereditary breast cancer and are increasingly used to determine eligibility for PARP inhibitor (PARPi) therapy of BRCA-related cancer. Because issues of BRCA testing in clinical practice now overlap with both preventive and therapeutic management, updated and comprehensive practice guidelines for BRCA genotyping are needed. The integrative recommendations for BRCA testing presented here aim to (1) identify individuals who may benefit from genetic counselling and risk-reducing strategies; (2) update germline and tumour-testing indications for PARPi-approved therapies; (3) provide testing recommendations for personalised management of early and metastatic breast cancer; and (4) address the issues of rapid process and tumour analysis. An international group of experts, including geneticists, medical and surgical oncologists, pathologists, ethicists and patient representatives, was commissioned by the French Society of Predictive and Personalised Medicine (SFMPP). The group followed a methodology based on specific formal guidelines development, including (1) evaluating the likelihood of BRCAm from a combined systematic review of the literature, risk assessment models and expert quotations, and (2) therapeutic values of BRCAm status for PARPi therapy in BRCA-related cancer and for management of early and advanced breast cancer. These international guidelines may help clinicians comprehensively update and standardise BRCA testing practices.BRCA1 and BRCA2 gene pathogenic variants account for most hereditary breast cancer and are increasingly used to determine eligibility for PARP inhibitor (PARPi) therapy of BRCA-related cancer. Because issues of BRCA testing in clinical practice now overlap with both preventive and therapeutic management, updated and comprehensive practice guidelines for BRCA genotyping are needed. The integrative recommendations for BRCA testing presented here aim to (1) identify individuals who may benefit from genetic counselling and risk-reducing strategies; (2) update germline and tumour-testing indications for PARPi-approved therapies; (3) provide testing recommendations for personalised management of early and metastatic breast cancer; and (4) address the issues of rapid process and tumour analysis. An international group of experts, including geneticists, medical and surgical oncologists, pathologists, ethicists and patient representatives, was commissioned by the French Society of Predictive and Personalised Medicine (SFMPP). The group followed a methodology based on specific formal guidelines development, including (1) evaluating the likelihood of BRCAm from a combined systematic review of the literature, risk assessment models and expert quotations, and (2) therapeutic values of BRCAm status for PARPi therapy in BRCA-related cancer and for management of early and advanced breast cancer. These international guidelines may help clinicians comprehensively update and standardise BRCA testing practices.
BRCA1 and BRCA2 gene pathogenic variants account for most hereditary breast cancer and are increasingly used to determine eligibility for PARP inhibitor (PARPi) therapy of BRCA-related cancer. Because issues of BRCA testing in clinical practice now overlap with both preventive and therapeutic management, updated and comprehensive practice guidelines for BRCA genotyping are needed. The integrative recommendations for BRCA testing presented here aim to (1) identify individuals who may benefit from genetic counselling and risk-reducing strategies; (2) update germline and tumour-testing indications for PARPi-approved therapies; (3) provide testing recommendations for personalised management of early and metastatic breast cancer; and (4) address the issues of rapid process and tumour analysis. An international group of experts, including geneticists, medical and surgical oncologists, pathologists, ethicists and patient representatives, was commissioned by the French Society of Predictive and Personalised Medicine (SFMPP). The group followed a methodology based on specific formal guidelines development, including (1) evaluating the likelihood of BRCAm from a combined systematic review of the literature, risk assessment models and expert quotations, and (2) therapeutic values of BRCAm status for PARPi therapy in BRCA-related cancer and for management of early and advanced breast cancer. These international guidelines may help clinicians comprehensively update and standardise BRCA testing practices.
BRCA1 and BRCA2 gene pathogenic variants account for most hereditary breast cancer and are increasingly used to determine eligibility for PARP inhibitor (PARPi) therapy of BRCA-related cancer. Because issues of BRCA testing in clinical practice now overlap with both preventive and therapeutic management, updated and comprehensive practice guidelines for BRCA genotyping are needed. The integrative recommendations for BRCA testing presented here aim to (1) identify individuals who may benefit from genetic counselling and risk-reducing strategies; (2) update germline and tumour-testing indications for PARPi-approved therapies; (3) provide testing recommendations for personalised management of early and metastatic breast cancer; and (4) address the issues of rapid process and tumour analysis. An international group of experts, including geneticists, medical and surgical oncologists, pathologists, ethicists and patient representatives, was commissioned by the French Society of Predictive and Personalised Medicine (SFMPP). The group followed a methodology based on specific formal guidelines development, including (1) evaluating the likelihood of BRCAm from a combined systematic review of the literature, risk assessment models and expert quotations, and (2) therapeutic values of BRCAm status for PARPi therapy in BRCA-related cancer and for management of early and advanced breast cancer. These international guidelines may help clinicians comprehensively update and standardise BRCA testing practices. •Provide update clinical recommendations for BRCA testing for preventive purpose.•Offer testing clinical guidelines for personalised management of early and metatstatic breast cancer.•Actualize germline and tumor testing indications for PARPi-approved therapies.•Address the issues of rapid process and tumor analysis.
Author Lamy, Pierre-Jean
Neuzillet, Yann
Bollet, Marc
Foulkes, William D.
Penault-Llorca, Frédérique
Vergote, Ignace
Hammel, Pascal
Anahory, Michèle
Turnbull, Clare
Pujol, Pascal
Duboys de Labarre, Marie
Gligorov, Joseph
Kogut-Kubiak, Tatiana
Vendrell, Julie
Capoluongo, Ettore D.
Nambot, Sophie
Hughes, Kevin S.
Jacot, William
Fizazi, Karim
Friedman, Eitan
Aapro, Matti S.
Beer, Philp
Baertschi, Bernard
Galibert, Virginie
Vintraud, Michèle
Mandel, Jean-Louis
Bignon, Yves-Jean
Rebillard, Xavier
Spano, Jean-Philippe
Normanno, Nicola
Zarca, Daniel
Rey, Jean-Marc
Duriez, Clarisse
Lambrechts, Diether
Corsini, Carole
Garcia Foncillas, Jesus
Olschwang, Sylviane
Treilleux, Isabelle
Arun, Banu K.
Barberis, Massimo
Duchamp, Florence
Imbert-Bouteille, Marion
Hanson, Helen
Rideau, Chloé
Baudry, Karen
Thomas, Frédéric
Cussenot, Olivier
Vandromme, Marion
Ray-Coquard, Isabelle
Narod, Steven
Piulats, Josep M.
Alés Martínez, Jose E.
De la Motte Rouge, Thibault
Gladieff, Laurence
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  email: michelevintraud@live.fr
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  givenname: Daniel
  surname: Zarca
  fullname: Zarca, Daniel
  email: daniel.zarca@gmail.com
  organization: The Paris Breast Centre- L'Institut Français du Sein- 15 rue Jean Nicot, 75007, Paris, France
– sequence: 53
  givenname: Kevin S.
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  email: kshughes@partners.org
  organization: Division of Surgical Oncology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA
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  givenname: Jose E.
  surname: Alés Martínez
  fullname: Alés Martínez, Jose E.
  email: jealesm@yahoo.es
  organization: Medical Oncology Department, Hospital Nuestra Señora de Sonsoles, Ávila, Ávila, Spain
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Keywords BRCA-related cancer
BRCA1 and BRCA2 testing
PARP inhibitors
Guidelines
Language English
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Snippet BRCA1 and BRCA2 gene pathogenic variants account for most hereditary breast cancer and are increasingly used to determine eligibility for PARP inhibitor...
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SubjectTerms BRCA-related cancer
BRCA1 and BRCA2 testing
BRCA1 Protein
BRCA1 Protein - genetics
BRCA2 Protein
BRCA2 Protein - genetics
Breast cancer
Breast Neoplasms
Breast Neoplasms - diagnosis
Breast Neoplasms - genetics
Cancer
Clinical medicine
Clinical practice guidelines
Customization
Female
Genetic counseling
Genetic screening
Genetic Testing
Genetic Testing - methods
Genotyping
Germ-Line Mutation
Guidelines
Humans
Life Sciences
Literature reviews
Metastases
Ovarian Neoplasms
Ovarian Neoplasms - diagnosis
Ovarian Neoplasms - genetics
PARP inhibitors
Poly(ADP-ribose) polymerase
Practice Guidelines as Topic
Practice Guidelines as Topic - standards
Precision medicine
Risk assessment
Tumors
Title Clinical practice guidelines for BRCA1 and BRCA2 genetic testing
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