title: Changing patterns of referrals and outcomes of genetic participation in gynaecological-oncology multidisciplinary care.
abstract: BACKGROUND
  Genetic participation in gynaecological oncology multidisciplinary team meetings (MDT) may identify the sentinel cancer in women with hereditary breast-ovarian cancer syndrome or Lynch syndrome.
  
  
  OBJECTIVE
  To identify the changing patterns of genetic referral from 2010 to 2014 and the outcomes of referrals through clinical MDT case review.
  
  
  METHODS
  Medical records of cases of gynaecological cancer presented at the MDT meetings and genetics databases were reviewed to determine the frequency and outcomes of recommendations for genetic referral between 2010 and 2014.
  
  
  RESULTS
  Four hundred and sixty-two women of 2523 cases reviewed were recommended for referral, increasing from 8% in 2010 to 25% in 2014. However, 167 of 462 patients (36%) had not registered with a Hereditary Cancer Clinic in NSW/ACT, including 11 women with high-grade serous ovarian cancer and seven women with abnormal MMR immunohistochemistry. Mutations were identified in 40 of 165 women (24%) undergoing breast cancer BRCA1/2 testing and in ten of 25 women (40%) who underwent MMR genetic testing. Eighty-one first- or second-degree relatives of these women have undergone predictive testing, identifying 48 mutation carriers and 33 non-carriers.
  
  
  CONCLUSIONS
  Changing indications and increased participation by a genetic consultant in the weekly MDT meeting has led to increasing genetic referrals over the last five years. Follow up of referrals needs to be addressed. With decreasing costs of genetic testing and use of readily transportable DNA collected through saliva or mouth swabs, we propose that distance should not be a barrier to this model being extended to all centres providing care to gynaecological cancer patients.
authors.affiliation: Royal Hospital for Women, Randwick, New South Wales, Australia.|University of New South Wales, Sydney, New South Wales, Australia.
authors.forename: Hanoon P
authors.initials: HP
authors.lastname: Pokharel
authors.affiliation: Royal Hospital for Women, Randwick, New South Wales, Australia.|University of New South Wales, Sydney, New South Wales, Australia.
authors.forename: Neville F
authors.initials: NF
authors.lastname: Hacker
authors.affiliation: Prince of Wales Hospital, Randwick, New South Wales, Australia.|University of New South Wales, Sydney, New South Wales, Australia.
authors.forename: Lesley
authors.initials: L
authors.lastname: Andrews
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004268:DNA-Binding Proteins / Q000032:analysis / Q000235:genetics; D030541:Databases, Genetic / Q000706:statistics & numerical data; D016889:Endometrial Neoplasms / Q000737:chemistry / Q000235:genetics*; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D005820:Genetic Testing / Q000706:statistics & numerical data / Q000639:trends*; D006801:Humans; D008875:Middle Aged; D000070976:Mismatch Repair Endonuclease PMS2 / Q000032:analysis / Q000235:genetics; D000070957:MutL Protein Homolog 1 / Q000032:analysis / Q000235:genetics; D051718:MutS Homolog 2 Protein / Q000032:analysis / Q000235:genetics; D009154:Mutation; D018297:Neoplasms, Cystic, Mucinous, and Serous / Q000737:chemistry / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000737:chemistry / Q000235:genetics*; D010348:Patient Care Team; D010375:Pedigree; D012017:Referral and Consultation / Q000706:statistics & numerical data / Q000639:trends*; D055815:Young Adult
chemical_list: D004268:DNA-Binding Proteins; C094443:G-T mismatch-binding protein; C501486:MLH1 protein, human; C094934:PMS2 protein, human; C497172:MSH2 protein, human; D000070976:Mismatch Repair Endonuclease PMS2; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein
keywords: 
  BRCA1/2
  ; Lynch syndrome; breast-ovarian cancer syndrome; hereditary cancer