HBOC Genetic counseling: major concerns and communication skills I.Antonucci, Molecular Genetics “G. d'Annunzio” University, Chieti

Request of genetic testing

Genetic counseling: a multistep process

WHO IS A CANDIDATE FOR CANCER GENETIC COUNSELING AND TESTING? Selection of patients for genetic testing is based on defined criteria taking individual and family history related factors into account Evaluation of the eligibility for the test -Amsterdam Criteria Evaluation of the risk of being a carrier of BRCA1/BRCA2 mutations - BRCAPRO : carrier probability (CP) >10%

BRCAPRO: Bayes Mendel-Model BRCAPro CP >10% Detection rate : 36.8% BRCAPro CP >50% Detection rate : 52.3%

CaGene 5. 1 was more sensitive than CaGene 6 CaGene 5.1 was more sensitive than CaGene 6.0, although the latter showed a higher specificity. CaGene 6.0 has underestimated the genetic risk prediction in some BRCA mutation-positive families

INTERDISCIPLINARY GROUP Geneticist   Psychologist   Radiologist   Senologist surgeon   Gynecologist   Pathologist   Oncologist NCCN Practice Guidelines

New selection criteria Patients always eligible for genetic testing: a) Women with early-onset breast cancer (< 50) b) Women with triple negative breast cancer at any age c) Women with both breast cancer and ovarian carcinoma at any age d) Men with breast cancer at any age e) Women suffering from ovarian cancer at any age f) Women with ovarian carcinoma with tissue BRCA mutation h) Presence of multiple neoplasia (melanoma, pancreatic carcinoma, hepatic carcinoma and colorectal cancer) Family history Multiple relatives affected Young age at diagnosis Multiple primary cancers Unusual Cancer Male breast cancer

Psychologist in genetic counseling

Preoperative genetic testing and surgical decision. Non-conservative surgery proposals Targeted therapy proposals (PARP-Inhibitors)

Surveillance for unaffected BRCA1 and BRCA2 mutation carriers

A retrospective study of 197 patients with breast/ovarian cancer recruited between 2014 and 2017: preliminary results New selection criteria Years Probands Mutation carriers Detection rate CaGene 6.0 positive CaGene 6.0 negative and mutation carriers 2014 22 5 22% 6 3 50% 40% 2015 36 7 20% 9 4 44% 42% 2016 48 10 21% 60% 2017 91 21 24% 18 55% 52% TOTAL 197 43 21 % 48 % 51 %

Post- test counseling

Clinical Management:Mutation-Positive Patient Mutation Negative Testing for other adult relatives

Evolution of clinicians attitude - 2018