International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers.
Several options for cancer prevention are available for women with a BRCA1 or BRCA2 mutation, including prophylactic surgery, chemoprevention and screening. The authors report on preventive practices in women with mutations from 9 countries and examine differences in uptake according to country. Women with a BRCA1 or BRCA2 mutation were contacted after receiving their genetic test result and were questioned regarding their preventive practices. Information was recorded on prophylactic mastectomy, prophylactic oophorectomy, use of tamoxifen and screening (MRI and mammography). Two thousand six hundred seventy-seven women with a BRCA1 or BRCA2 mutation from 9 countries were included. The follow-up questionnaire was completed a mean of 3.9 years (range 1.5-10.3 years) after genetic testing. One thousand five hundred thirty-one women (57.2%) had a bilateral prophylactic oophorectomy. Of the 1,383 women without breast cancer, 248 (18.0%) had had a prophylactic bilateral mastectomy. Among those who did not have a prophylactic mastectomy, only 76 women (5.5%) took tamoxifen and 40 women (2.9%) took raloxifene for breast cancer prevention. Approximately one-half of the women at risk for breast cancer had taken no preventive option, relying solely on screening. There were large differences in the uptake of the different preventive options by country of residence. Prophylactic oophorectomy is now generally accepted by women and their physicians as a cancer preventive measure. However, only the minority of women with a BRCA1 or BRCA2 mutation opt for prophylactic mastectomy or take tamoxifen for the prevention of hereditary breast cancer. Approximately one-half of women at risk for breast cancer rely on screening alone.
Metcalfe
Kelly A
KA
Lawrence S. Bloomberg Faculty of Nursing, University of Toronto, Toronto, ON, Canada.
Birenbaum-Carmeli
Daphna
D
Lubinski
Jan
J
Gronwald
Jacek
J
Lynch
Henry
H
Moller
Pal
P
Ghadirian
Parviz
P
Foulkes
William D
WD
Klijn
Jan
J
Friedman
Eitan
E
Kim-Sing
Charmaine
C
Ainsworth
Peter
P
Rosen
Barry
B
Domchek
Susan
S
Wagner
Teresa
T
Tung
Nadine
N
Manoukian
Siranoush
S
Couch
Fergus
F
Sun
Ping
P
Narod
Steven A
SA
D000328:Adult; D000368:Aged; D018931:Antineoplastic Agents, Hormonal / Q000627:therapeutic use; D001943:Breast Neoplasms / Q000235:genetics / Q000517:prevention & control*; D002170:Canada / Q000453:epidemiology; D016009:Chi-Square Distribution; D020847:Estrogen Receptor Modulators / Q000627:therapeutic use; D005060:Europe / Q000453:epidemiology; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D014644:Genetic Variation; D006579:Heterozygote; D006801:Humans; D008403:Mass Screening; D008408:Mastectomy / Q000706:statistics & numerical data; D008875:Middle Aged; D009154:Mutation; D010052:Ovariectomy / Q000706:statistics & numerical data; D011159:Population Surveillance; D011322:Primary Prevention / Q000379:methods*; D020849:Raloxifene Hydrochloride / Q000627:therapeutic use; D012107:Research Design; D011795:Surveys and Questionnaires; D013629:Tamoxifen / Q000627:therapeutic use
D018931:Antineoplastic Agents, Hormonal; D020847:Estrogen Receptor Modulators; D013629:Tamoxifen; D020849:Raloxifene Hydrochloride