title: A new paradigm of genetic testing for hereditary breast/ovarian cancers.
abstract: BACKGROUND
  Genetic risk factors and family history play an important role in breast cancer development. This review aimed to summarise the current genetic testing approach to hereditary breast/ovarian cancer.
  
  
  METHODS
  A systematic literature review was performed by searching the PubMed database. Publications available online until January 2015 that addressed issues related to hereditary breast/ovarian cancer genetic counselling/testing were selected. The search terms used were "familial breast/ovarian cancer", "susceptibility genes", "genetic counselling", and "genetic testing". The data extracted for this review were analysed by the authors, with a focus on genetic testing for hereditary breast/ovarian cancer.
  
  
  RESULTS
  Although a greater proportion of inherited breast/ovarian cancers are due to the BRCA1 and BRCA2 mutations, a number of new genes have emerged as susceptibility candidates, including rare germline mutations in high penetrance genes, such as TP53 and PTEN, and more frequent mutations in moderate/low penetrance genes, such as PALB2, CHEK2 and ATM. Multi-gene testing, if used appropriately, is generally a more cost- and time-effective method than single-gene testing, and may increase the number of patients who can be offered personal surveillance, risk-reduction options, and testing of high-risk family members.
  
  
  CONCLUSIONS
  Recent advances in molecular genetics testing have identified a number of susceptibility genes related to hereditary breast and/or ovarian cancers other than BRCA1 and BRCA2. The introduction of multi-gene testing for hereditary cancer has revolutionised the clinical management of high-risk patients and their families. Individuals with hereditary breast/ovarian cancer will benefit from genetic counselling/testing.
authors.affiliation: Breast Surgery Division, The University of Hong Kong, Pokfulam, Hong Kong.
authors.forename: Ava
authors.initials: A
authors.lastname: Kwong
authors.affiliation: Breast Surgery Division, The University of Hong Kong, Pokfulam, Hong Kong.
authors.forename: J W
authors.initials: JW
authors.lastname: Chen
authors.affiliation: Breast Surgery Division, The University of Hong Kong, Pokfulam, Hong Kong.
authors.forename: Vivian Y
authors.initials: VY
authors.lastname: Shin
mesh_terms: D001943:Breast Neoplasms / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D008967:Molecular Biology / Q000379:methods; D010051:Ovarian Neoplasms / Q000175:diagnosis* / Q000235:genetics; D012307:Risk Factors
keywords: BRCA1 protein; BRCA2 protein; Breast neoplasms; Genetic testing