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Germline Testing in Patients With Breast Cancer: ASCO-Society of Surgical Oncology Guideline.
Bedrosian, Isabelle; Somerfield, Mark R; Achatz, Maria Isabel; Boughey, Judy C; Curigliano, Giuseppe; Friedman, Sue; Kohlmann, Wendy K; Kurian, Allison W; Laronga, Christine; Lynce, Filipa; Norquist, Barbara S; Plichta, Jennifer K; Rodriguez, Patricia; Shah, Payal D; Tischkowitz, Marc; Wood, Marie; Yadav, Siddhartha; Yao, Katherine; Robson, Mark E.
Afiliación
  • Bedrosian I; The University of Texas MD Anderson Cancer Center, Houston, TX.
  • Somerfield MR; American Society of Clinical Oncology, Alexandria, VA.
  • Achatz MI; Centro de Oncologia, Hospital Sírio-Libanês, São Paulo, Brazil.
  • Boughey JC; Mayo Clinic, Rochester, MN.
  • Curigliano G; University of Milan, Italy.
  • Friedman S; European Institute of Oncology, IRCCS, Milano, Italy.
  • Kohlmann WK; FORCE (Facing Our Risk of Cancer Empowered), Tampa, FL.
  • Kurian AW; University of Utah Huntsman Cancer Institute, Salt Lake City, UT.
  • Laronga C; Stanford University School of Medicine, Stanford, CA.
  • Lynce F; Moffitt Cancer Center, Tampa, FL.
  • Norquist BS; Dana-Farber Cancer Institute, Boston, MA.
  • Plichta JK; University of Washington Medical Center, Seattle, WA.
  • Rodriguez P; Duke University Medical Center, Department of Surgery, Durham, NC.
  • Shah PD; Hereditary Cancer Risk Assessment Program, Virginia Cancer Specialists, Arlington, VA.
  • Tischkowitz M; Basser Center for BRCA & Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA.
  • Wood M; Department of Medical Genetics, National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge, Cambridge, United Kingdom.
  • Yadav S; University of Colorado, Denver, CO.
  • Yao K; Mayo Clinic, Rochester, MN.
  • Robson ME; Division of Surgical Oncology at NorthShore University Health System, Evanston, IL.
J Clin Oncol ; 42(5): 584-604, 2024 Feb 10.
Article en En | MEDLINE | ID: mdl-38175972
ABSTRACT

PURPOSE:

To develop recommendations for germline mutation testing for patients with breast cancer.

METHODS:

An ASCO-Society of Surgical Oncology (SSO) panel convened to develop recommendations based on a systematic review and formal consensus process.

RESULTS:

Forty-seven articles met eligibility criteria for the germline mutation testing recommendations; 18 for the genetic counseling recommendations.

RECOMMENDATIONS:

BRCA1/2 mutation testing should be offered to all newly diagnosed patients with breast cancer ≤65 years and select patients >65 years based on personal history, family history, ancestry, or eligibility for poly(ADP-ribose) polymerase (PARP) inhibitor therapy. All patients with recurrent breast cancer who are candidates for PARP inhibitor therapy should be offered BRCA1/2 testing, regardless of family history. BRCA1/2 testing should be offered to women who develop a second primary cancer in the ipsilateral or contralateral breast. For patients with prior history of breast cancer and without active disease, testing should be offered to patients diagnosed ≤65 years and selectively in patients diagnosed after 65 years, if it will inform personal and family risk. Testing for high-penetrance cancer susceptibility genes beyond BRCA1/2 should be offered to those with supportive family histories; testing for moderate-penetrance genes may be offered if necessary to inform personal and family cancer risk. Patients should be provided enough pretest information for informed consent; those with pathogenic variants should receive individualized post-test counseling. Variants of uncertain significance should not impact management, and patients with such variants should be followed for reclassification. Referral to providers experienced in clinical cancer genetics may help facilitate patient selection and interpretation of expanded testing, and provide counseling of individuals without pathogenic germline variants but with significant family history.Additional information is available at www.asco.org/breast-cancer-guidelines.
Asunto(s)

Texto completo: 1 Colección: 01-internacional Asunto principal: Neoplasias de la Mama / Oncología Quirúrgica Tipo de estudio: Etiology_studies / Guideline / Prognostic_studies / Risk_factors_studies / Systematic_reviews Límite: Female / Humans Idioma: En Revista: J Clin Oncol Año: 2024 Tipo del documento: Article

Texto completo: 1 Colección: 01-internacional Asunto principal: Neoplasias de la Mama / Oncología Quirúrgica Tipo de estudio: Etiology_studies / Guideline / Prognostic_studies / Risk_factors_studies / Systematic_reviews Límite: Female / Humans Idioma: En Revista: J Clin Oncol Año: 2024 Tipo del documento: Article