Abstract P4-06-14: Voice of cancer patients: Association of family history with genetic mutations in breast and ovarian cancer
Authors: Aggarwal S , Sharma R , Sharma R , Aggarwal A 
Published: February 2018

There are specific guidelines for testing germline mutations in patients with breast cancer. Besides BRCA 1 and 2, germline mutations of multiple other genes are being recognized as risk factors for breast and ovarian cancers and hence more patients are being tested using multigene panels.

Many patients share their experiences as freely shared messages in online forums. In this study, we use our automated system (VoCP) to analyze these messages to understand awareness of genetic testing in breast cancer patients and some factors that lead to their genetic testing.

Method: We collected 15.13 million unique messages (by 987,189 users) from 37 unrestricted cancer forums that provide clinically relevant information. We built custom ontologies for genetic tests; breast, ovarian and other cancers; risk reducing mastectomy and oophorectomy; and screening. We then used VoCP that uses techniques from Big Data Science and Artificial Intelligence (e.g., deep learning, topic modeling, information retrieval, and natural language processing) to extract relevant information from these messages.

Results: Out of 15.13 million, 30,074 messages from 7,838 distinct users were discussing genetic testing. Mutations that were discussed most include:

· BRCA1/BRCA2 (28,130 messages); 954 patients were positive

· PALB2 (218 messages); 114 were positive

· CHEK2 (315 messages); 149 were positive

· TP53 (180 messages); 55 were positive

· BRIP1 (76 messages); 36 were positive

· CDH1 (128 messages); 12 were positive

· NBN (80 messages); 28 were positive

· STK11 (48 messages); 2 were positive

· RAD50/ RAD51C (39 messages/48 messages)

Association with family history of cancer: 3,083 messages mentioned positive family history and some mentioned several cancers in their family; these messages discussed the following cancers:

· Breast cancer: 2,243 massages

· Ovarian cancer: 830 massages

· Colon cancer: 247 messages

· Pancreatic cancer: 121 massages

· Prostate cancer: 206 massages

· Lung cancer: 138 messages

Out of 954 BRCA 1 and 2 positive patients,

· 279 messages indicated their family members were tested for BRCA 1 and 2

· 156 messages indicated positive mutations were found in family members

· 23 messages indicated that male members of family were also being tested

Also, out of 954 BRCA 1 and 2 positive patients,

· 333 mentioned opting for bilateral mastectomy and 117 talked about getting Prophylactic Bilateral Salpingo Oophorectomy

· 309 messages talked about ovarian cancer once they found out that they have BRCA mutation

Discussion:There is increasing awareness of genetic testing and germline mutations in addition to BRCA 1 and 2 in breast cancer. Positive family history of cancer is mentioned in 10% of patients seeking genetic testing.

VoCP reliably provides meaningful insights from patients' point of view to their treatment and their concerns; it also gives insight into unmet needs where more resources and research should be focused.

We plan to use VoCP for further segmenting these 30,074 messages to understand other attributes and awareness among such patients.

Citation Format: Aggarwal S, Sharma R, Sharma R, Aggarwal A. Voice of cancer patients: Association of family history with genetic mutations in breast and ovarian cancer [abstract]. In: Proceedings of the 2017 San Antonio Breast Cancer Symposium; 2017 Dec 5-9; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2018;78(4 Suppl):Abstract nr P4-06-14.