Preventing breast and ovarian cancers in high-risk BRCA1 and BRCA2 mutation carriers.
OBJECTIVE
To estimate the prevalence of the use of cancer risk-reducing measures among Australian BRCA1 and BRCA2 mutation carriers.


METHODS
Prospective follow-up of female carriers of BRCA1 or BRCA2 mutations who had no personal history of cancer and were enrolled in a multiple-case breast cancer family cohort study (kConFab). Data, including cancer events and uptake of risk-reducing surgery and medication were collected by self-report at cohort entry and 3 yearly thereafter. Surgery was confirmed from pathology and medical records. Women were followed up from enrolment until cancer diagnosis, date of last follow-up, or death. Data were collected from 3 November 1997 to 21 May 2012.


METHODS
Uptake of risk-reducing surgery and/or medication.


RESULTS
Of 175 BRCA1 and 150 BRCA2 mutation carriers (median age, 37 years at cohort enrolment), 69 (21%) underwent risk-reducing mastectomy, 125 (38%) underwent risk-reducing bilateral salpingo-oophorectomy and nine (3%) participated in a clinical trial of risk-reducing medication, during 2447 person-years of follow-up (median follow-up, 9 years). Sixty-eight women (21%) reported incident cancers, including 52 breast cancers and nine ovarian cancers (defined in this article as high-grade serous cancers of the ovary, fallopian tube or peritoneum).


CONCLUSIONS
There is considerable scope to increase the uptake of cancer risk-reducing measures in Australian BRCA1 and BRCA2 mutation carriers. These findings should drive (i) future research into the factors contributing to low uptake in Australia and (ii) changes to policy and practice to help better translate genetic knowledge into reductions in cancer incidence.
Peter MacCallum Cancer Centre, Melbourne, VIC, Australia. Kelly.Phillips@petermac.org.
Ian M
IM
Collins
Roger L
RL
Milne
Prue C
PC
Weideman
Sue-Anne
SA
McLachlan
Michael L
ML
Friedlander
John L
JL
Hopper
Kelly-Anne
KA
Phillips
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000970:Antineoplastic Agents / Q000627:therapeutic use; D001315:Australia / Q000453:epidemiology; D017024:Chemotherapy, Adjuvant / Q000706:statistics & numerical data; D005260:Female; D005500:Follow-Up Studies; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D005819:Genetic Markers; D005820:Genetic Testing; D061325:Hereditary Breast and Ovarian Cancer Syndrome / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000517:prevention & control*; D006801:Humans; D015994:Incidence; D008408:Mastectomy / Q000706:statistics & numerical data; D008875:Middle Aged; D009154:Mutation; D010052:Ovariectomy / Q000706:statistics & numerical data; D010342:Patient Acceptance of Health Care / Q000706:statistics & numerical data*; D011446:Prospective Studies; D012306:Risk; D058994:Salpingectomy / Q000706:statistics & numerical data; D057566:Self Report
D000970:Antineoplastic Agents; D005819:Genetic Markers