Germline genetic testing is an indispensable part of the contemporary comprehensive care of patients with breast cancers. The mainstreaming of testing in clinics and multigene panel testing has become the current standard of care. Identifying a P/LP mutation in BRCA1, 2 and other genes like PALB2, TP53, CHEK2, RAD51C, STK11, etc., has significant implications—both for the patient’s clinical management, future risk assessment, and mitigation as well as their family members. Intensive radiological surveillance for breast cancers is the most taken approach for risk management of individuals with these mutations. Guidelines are rapidly changing as newer data continue to be reported. This chapter is a compendium of current evidence-based information on this subject for practicing radiologists and clinicians, guiding them to the Do’s and Don’ts.

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High-Risk Screening, Genetic Testing, and Counselling

  • Raja Pramanik,
  • Ekta Dhamija

摘要

Germline genetic testing is an indispensable part of the contemporary comprehensive care of patients with breast cancers. The mainstreaming of testing in clinics and multigene panel testing has become the current standard of care. Identifying a P/LP mutation in BRCA1, 2 and other genes like PALB2, TP53, CHEK2, RAD51C, STK11, etc., has significant implications—both for the patient’s clinical management, future risk assessment, and mitigation as well as their family members. Intensive radiological surveillance for breast cancers is the most taken approach for risk management of individuals with these mutations. Guidelines are rapidly changing as newer data continue to be reported. This chapter is a compendium of current evidence-based information on this subject for practicing radiologists and clinicians, guiding them to the Do’s and Don’ts.