title: Time to incorporate germline multigene panel testing into breast and ovarian cancer patient care.
abstract: 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.
authors.affiliation: Department of Medical Oncology, European Institute of Oncology, Milan, Italy. rossella.graffeogalbiati@eoc.ch.|Institute of Oncology of Southern Switzerland (IOSI) and Breast Unit of Southern Switzerland (CSSI), Bellinzona, Switzerland. rossella.graffeogalbiati@eoc.ch.
authors.forename: Rossella
authors.identifier: 0000-0002-4963-5432
authors.initials: R
authors.lastname: Graffeo
authors.affiliation: Medical Oncology Unit ASST Papa Giovanni XXIII, Bergamo, Italy.
authors.forename: Luca
authors.initials: L
authors.lastname: Livraghi
authors.affiliation: Institute of Oncology of Southern Switzerland (IOSI) and Breast Unit of Southern Switzerland (CSSI), Bellinzona, Switzerland.
authors.forename: Olivia
authors.initials: O
authors.lastname: Pagani
authors.affiliation: Department of Medical Oncology, European Institute of Oncology, Milan, Italy.
authors.forename: Aron
authors.initials: A
authors.lastname: Goldhirsch
authors.affiliation: Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.
authors.forename: Ann H
authors.initials: AH
authors.lastname: Partridge
authors.affiliation: Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.
authors.forename: Judy E
authors.initials: JE
authors.lastname: Garber
mesh_terms: D014408:Biomarkers, Tumor; D001943:Breast Neoplasms / Q000175:diagnosis* / Q000235:genetics* / Q000517:prevention & control / Q000628:therapy; D018567:Breast Neoplasms, Male / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D019468:Disease Management; D000076164:Fanconi Anemia Complementation Group N Protein / Q000235:genetics; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods; D018095:Germ-Line Mutation; D061325:Hereditary Breast and Ovarian Cancer Syndrome / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D006801:Humans; D008297:Male; D009154:Mutation; D010051:Ovarian Neoplasms / Q000175:diagnosis* / Q000235:genetics* / Q000517:prevention & control / Q000628:therapy; D019683:Penetrance; D013274:Stomach Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000517:prevention & control / Q000628:therapy
chemical_list: D014408:Biomarkers, Tumor; D000076164:Fanconi Anemia Complementation Group N Protein
keywords: BRCA; Breast and ovarian cancer; Cancer genetic counseling; Genetic counselors; Multiple-gene panel testing; Surveillance