Abstract P4-12-15: Are we appropriately referring and testing breast cancer women for genetic mutations?
Authors: Saraf Pankhoori , Patel Dipen , Cohen Alice J 
Published: May 2015

Background – Annually it is estimated that Hereditary Breast and Ovarian Syndrome (HBOC) accounts for 5 - 6% of breast cancer in the US. The majority of HBOC are associated with gene mutations in BRCA 1 & 2; other mutations include p53, PTEN, CH1, STK11. These genes are tumor suppressor genes and play a role in the maintainence of genomic integrity. Women with BRCA mutations have a life time risk of developing breast cancer (50 -85%) and ovarian cancer (15-40%). Other cancers have been associated with these mutations as well. The estimated frequency of a mutation in the BRCA gene is 1/800-1/1000. As a primary oncologist it is our responsibility to screen breast cancer patients who may harbour such deleterious mutation and offer appropriate screening, counselling, testing and management. As tests are now available without trained genetic counsellors, the question remains are all appropriate patients being offered genetic testing to assist in treatment and does onsite genetic counselling improve testing rates.

Purpose of study – To evaluate the difference in identification of high risk breast cancer patients and the number of women who undergo genetic testing with or without an onsite genetic counsellor.

Methods – A retrospective chart review was performed of all newly diagnosed breast cancer patients from March 2012 – February 2014. Year 1 was without a genetic counsellor, March 2012 - February 2013 (Gr.1) and year 2 with an onsite genetic counsellor, March 2013 – February 2014 (Gr.2). Information collected included age, stage of breast cancer, receptor type, reason for referral or genetic testing based on NCCN criteria for HBOC testing and results of tests.

Results – 135 new breast cancer patients were identified and 125 were evaluable. In Gr 1, 27/72 (37.5%) met criteria for genetic testing. 15 were offered testing (55.5%). 5/15 (33.3%) completed testing with no patient positive for BRCA mutation; 10 patients were non compliant with recommended testing; 3 patients were tested outside of guidelines with negative results.

In Gr 2, 22/53 (41.5%) met criteria for genetic testing. 16 were offered testing (72.3%); 8/16 (50%) completed testing with 4 positive for a BRCA mutation; 8 patients were not tested (6 patients non compliant with recommended testing, 1 due to insurance issuses and 1 refused).

See Table 1.

Table 1GroupsTotal number of patientsGenetic test criteria metOffered testingActual testingGr 17227 (37.5%)15 (55.5%)5 (33.3%)Gr 25322 (41.5%)16 (72.3%)8 (50%)

The most common reason for genetic testing was patients with primary breast cancer age &lt; 45 years. Patients who met criteria but were not offered testing were those with age &lt; 45 years and triple negative breast cancer. 5 patients in Gr 1 were seen by the genetic counsellor post treatment and all 5 were tested.

Conclusion – A greater number of women with newly diagnosed breast cancer were identified and offered genetic testing with an onsite genetic counsellor. The precentage of individuals tested increased with an onsite counsellor.

Citation Format: Pankhoori Saraf, Dipen Patel, Alice J Cohen. Are we appropriately referring and testing breast cancer women for genetic mutations? [abstract]. In: Proceedings of the Thirty-Seventh Annual CTRC-AACR San Antonio Breast Cancer Symposium: 2014 Dec 9-13; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2015;75(9 Suppl):Abstract nr P4-12-15.