Breast Cancer Research and Treatment

, Volume 160, Issue 3, pp 393–410 | Cite as

Time to incorporate germline multigene panel testing into breast and ovarian cancer patient care

  • Rossella GraffeoEmail author
  • Luca Livraghi
  • Olivia Pagani
  • Aron Goldhirsch
  • Ann H. Partridge
  • Judy E. Garber



Genetic evaluation is increasingly becoming an integral part of the management of women with newly diagnosed breast and ovarian cancer (OC), and of individuals at high risk for these diseases. Genetic counseling and testing have been incorporated into oncological care to help and complete management and treatment strategies. Risk assessment and early detection strategies in individuals with BRCA1/2 mutations and with Lynch syndrome have been quite extensively studied, whereas much less is known about the management of mutation carriers with less common high-penetrance cancer susceptibility genes (PTEN, TP53, STK11, CDH1), and particularly those who carry mutations in moderate-penetrance genes (e.g., PALB2, CHEK2, ATM, NF1, RAD51C, RAD51D, BRIP1).


The latter patient groups represent important ongoing research opportunities to enable informed counseling about appropriate clinical management.


We summarize the current guidelines for the management of high and moderate-penetrance mutations for breast and OC susceptibility. Continuous updating of guidelines for proper clinical management of these individuals is ongoing because of rapid advances in technology and knowledge in this field. Thus, we exhort the use of multigene panels for the assessment of cancer risk beyond the classic predisposition syndromes as a new standard of care in cancer genetics. We further support an increase of genetic counselors in Europe and use of their expertise to support genetic testing in specialist multidisciplinary teams.


Cancer genetic counseling Breast and ovarian cancer BRCA Surveillance Multiple-gene panel testing Genetic counselors 


Compliance with ethical standards

Conflicts of interest

The authors have declared no conflicts of interest.

Human and animal participants

The current manuscript is a review and does not contain any studies with human participants or animals performed by any of the authors, therefore there was no funding.


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Copyright information

© Springer Science+Business Media New York 2016

Authors and Affiliations

  1. 1.Department of Medical OncologyEuropean Institute of OncologyMilanItaly
  2. 2.Medical Oncology Unit ASST Papa Giovanni XXIIIBergamoItaly
  3. 3.Institute of Oncology of Southern Switzerland (IOSI) and Breast Unit of Southern Switzerland (CSSI)BellinzonaSwitzerland
  4. 4.Department of Medical OncologyDana-Farber Cancer InstituteBostonUSA

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