Introduction

Despite treatment advances, ovarian cancer is a fatal disease for most patients. In 2009, approximately 21,550 new cases of ovarian cancer will be diagnosed and 14,600 deaths will occur from the disease. Women in the general population have a

1 in 72 (1.4%) lifetime risk of developing ovarian cancer and a 1 in 100 (1.00%) risk of dying from the disease.1 Approximately 75% of patients present with advanced-stage disease, when long-term survival is poor.2 Early-stage ovarian cancer has an improved survival rate, and research efforts aimed at early detection have the potential to reduce mortality.

At this time, no studies have demonstrated sufficient efficacy for ovarian cancer screening in the general population. Therefore, ovarian cancer screening is not recom-

Table 6-1. Relative Risk of Breast and Ovarian Cancer in Mutation Carriers

RR* (95% CI) of Cancer for Carriers of Mutations in

BRCA1 BRCA2

RR* (95% CI) of Cancer for Carriers of Mutations in

BRCA1 BRCA2

Age Group

Breast Cancer

Ovarian Cancer

Breast Cancer

Ovarian Cancer

20-29 years

17 (4.2-71)

1.0

19 (4.5-81)

1.0

30-39 years

33 (23-49)

49 (21-111)

16 (9.3-29)

1.0

40-49 years

32 (24-43)

68 (42-111)

9.9 (6.1-16)

6.3 (1.4-28)

50-59 years

18 (11-30)

31 (14-66)

12 (7.4-19)

19 (9.0-41)

60-69 years

14 (6.3-31)

50 (22-114)

11 (6.3-20)

8.4 (2.2-32)

*RR, relative risk compared with England and Wales in 1973-1977.

From Antoniou A, Pharoah PD, Narod S, et al: Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 72:11171130, 2003: Table 3.

*RR, relative risk compared with England and Wales in 1973-1977.

From Antoniou A, Pharoah PD, Narod S, et al: Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 72:11171130, 2003: Table 3.

mended for women with general population risk. However, the urgency of ovarian cancer screening is greater for women with BRCA1 and BRCA2 mutations, given their significantly increased risk of ovarian cancer associated with these mutations (Table 6-1). In contrast to the 1.4% lifetime risk of ovarian cancer for women in the general population, women with a BRCA1 mutation have a 39% to 46% lifetime risk of ovarian cancer, and women with a BRCA2 mutation have a 12% to 20% lifetime risk of ovarian cancer.3,4 This chapter discusses the basic principles of cancer screening, the challenges associated with ovarian cancer screening, and studies of screening strategies in high- and low-risk populations.

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