Early experience in a breast and ovarian cancer risk management clinic in Malaysia

Background

The discovery of BRCA1 and BRCA2 in the mid 1990’s has transformed the management of breast and ovarian cancer families. As part of the M alay sian Br east Ca ncer Genetic Study [MyBrCa], University of Malaya and CARIF have established a genetic counseling, genetic testing and risk management clinic for high-risk breast and ovarian cancer families. We studied the uptake and acceptance of screening and prophylactic surgery amongst women who carry a BRCA1 or BRCA2 mutation.

Methods

Between Jan 03 and Dec 10, a total of 384 patients in the MyBrCa Study had full sequencing and large rearrangement analysis of both BRCA1 and BRCA2 genes. Of these, 56 index patients (15%) were found to carry deleterious mutations. All patients and their relatives who carry mutations in these genes were offered follow-up in a dedicated risk management clinic. The clinic is run jointly by a consultant breast surgeon, gynae-oncologist, a genetic counselor and supported by a consultant radiologist.

Results

Of 56 index patients, 40 (71%) chose to know their genetic test results. In addition, 18 female relatives were identified as carriers. Six had passed away. Thus, 52 female carriers are being followed-up [43 affected, 9 unaffected individuals]. Of these, 25 women or 62.5% [24 previously affected by breast cancer and 1 unaffected BRCA carriers] chose to attend a dedicated risk management clinic at University Malaya Medical Centre. Of these 24 affected women, 4 (17%) already had bilateral mastectomies for bilateral breast cancers, 5 (24%) chose to have risk reducing mastectomy (RRM), the remaining 16 (76%) chose breast surveillance [only 6 had MRI] and none took up chemoprevention with Tamoxifen. Of the 19 women who did not have previous TAHBSOs, 12 (63%) chose risk reducing salpingo-oopherectomy (RRSO).

Conclusions

The uptake of RRM was lower than RRSO. This study shows that although specialized risk management clinics are acceptable in a high proportion of clients, reasons for not wanting to attend a risk management clinic should be explored.