Characteristics of six studies that investigated strategies taken by healthy BRCA1 or BRCA2 mutation carriers to reduce risk of ovarian cancer
| Study . | Study population . | Location of study . | Sample size of healthy mutation carriers . | Method used to assess outcome . | Follow-up period . | Choice of risk reduction strategy . | . | |
|---|---|---|---|---|---|---|---|---|
| . | . | . | . | . | . | Surveillance . | PO . | |
| Botkin et al. (20) | Females from an extended kindred known to carry a single BRCA1 mutation, recruited between 1995 and 1997, predominantly Mormons. | Salt Lake City, UT, USA | 26 | In-person interview | 12 months | — | — | |
| 24 months | 54% (14) | 46% (12) | ||||||
| Ages 25-39 | 71% (12) | 29% (5) | ||||||
| Ages >40 | 22% (2) | 78% (7) | ||||||
| Lerman et al. (21) | Females from an extended BRCA1- or BRCA2-linked families, enrolled in prospective cohort study from July 1994 to October 1997 | Omaha, NE, USA | 39 | Telephone interview | 12 months | 87% (34) | 13% (5) | |
| Lodder et al. (13) | Females from families known to carry a BRCA1 or BRCA2 mutation and with a first-degree relative with breast or ovarian cancer, who underwent genetic testing, Department of Clinical Genetics, Erasmus University, from December 1995 to April 1998 | Rotterdam, the Netherlands | 26 | In-person interview | 12 months | 50% (13) | 50% (13) | |
| Meijers-Heijboer et al. (9) | Females from families known to carry a BRCA1 or BRCA2 mutation, and with a first-degree relative with breast or ovarian cancer, who were seen at the Family Cancer Clinic and underwent BRCA1/2 testing, Department of Clinical Genetics, Erasmus University, from Jan 1, 1994 to Jan 1, 1998 | Rotterdam, the Netherlands | 45 | Clinical records | 12 months | 47% (21) | 53% (24) | |
| For entire study period (median = 21 months, range = 10.0-61.0) | 36% (16) | 64% (29) | ||||||
| Scheuer et al. (2) | Females who enrolled in one of three follow-up studies (one for those of Ashkenazi origin) and received genetic testing at Memorial Sloan-Kettering Cancer Center, from June 1, 1995 to October 31, 2000 | New York, NY, USA | 179 | Telephone interview combined with clinical records and pathology reports | Mean = 24.1 months, range = 1.6 -66.0 | 49% (89) | 51% (90)* | |
| Schwartz et al. (22) | Females from families with known BRCA1 or BRCA2 mutations who underwent free genetic testing through Lambardi Center Cancer Assessment and Risk Program from 1995 to 2000 | Washington, DC, USA | 79 | Telephone interview | 12 months | 73% (58) | 27% (21) | |
| Study . | Study population . | Location of study . | Sample size of healthy mutation carriers . | Method used to assess outcome . | Follow-up period . | Choice of risk reduction strategy . | . | |
|---|---|---|---|---|---|---|---|---|
| . | . | . | . | . | . | Surveillance . | PO . | |
| Botkin et al. (20) | Females from an extended kindred known to carry a single BRCA1 mutation, recruited between 1995 and 1997, predominantly Mormons. | Salt Lake City, UT, USA | 26 | In-person interview | 12 months | — | — | |
| 24 months | 54% (14) | 46% (12) | ||||||
| Ages 25-39 | 71% (12) | 29% (5) | ||||||
| Ages >40 | 22% (2) | 78% (7) | ||||||
| Lerman et al. (21) | Females from an extended BRCA1- or BRCA2-linked families, enrolled in prospective cohort study from July 1994 to October 1997 | Omaha, NE, USA | 39 | Telephone interview | 12 months | 87% (34) | 13% (5) | |
| Lodder et al. (13) | Females from families known to carry a BRCA1 or BRCA2 mutation and with a first-degree relative with breast or ovarian cancer, who underwent genetic testing, Department of Clinical Genetics, Erasmus University, from December 1995 to April 1998 | Rotterdam, the Netherlands | 26 | In-person interview | 12 months | 50% (13) | 50% (13) | |
| Meijers-Heijboer et al. (9) | Females from families known to carry a BRCA1 or BRCA2 mutation, and with a first-degree relative with breast or ovarian cancer, who were seen at the Family Cancer Clinic and underwent BRCA1/2 testing, Department of Clinical Genetics, Erasmus University, from Jan 1, 1994 to Jan 1, 1998 | Rotterdam, the Netherlands | 45 | Clinical records | 12 months | 47% (21) | 53% (24) | |
| For entire study period (median = 21 months, range = 10.0-61.0) | 36% (16) | 64% (29) | ||||||
| Scheuer et al. (2) | Females who enrolled in one of three follow-up studies (one for those of Ashkenazi origin) and received genetic testing at Memorial Sloan-Kettering Cancer Center, from June 1, 1995 to October 31, 2000 | New York, NY, USA | 179 | Telephone interview combined with clinical records and pathology reports | Mean = 24.1 months, range = 1.6 -66.0 | 49% (89) | 51% (90)* | |
| Schwartz et al. (22) | Females from families with known BRCA1 or BRCA2 mutations who underwent free genetic testing through Lambardi Center Cancer Assessment and Risk Program from 1995 to 2000 | Washington, DC, USA | 79 | Telephone interview | 12 months | 73% (58) | 27% (21) | |
In an updated analysis, Kauff et al. (3) reported that 42% and 58% of carriers underwent surveillance and PO , respectively.