Autosomal dominant inheritance of early-onset breast cancer. Implications for risk prediction

Abstract

Background. Improvements in screening techniques have made significant contributions to the early detection of breast cancer. Physicians thus face the task of providing appropriate screening schedules for their patients. One group for whom this is particularly important are those women with a family history of breast cancer. Methods. In this report, data from the Cancer and Steroid Hormone Study, a population‐based, case‐control study conducted by the Centers for Disease Control, are used to provide age‐specific risk estimates of breast cancer for women with a family history of breast cancer. The data set includes 4730 patients with histologically confirmed breast cancer age 20–54 years and 4688 control subjects who were frequency matched to patients by geographic region and 5‐year age intervals. The data set also includes family histories of breast cancer in mothers and sisters of both patients and control subjects. Results. Genetic models fit previously to these data by the authors have provided evidence for a rare autosomal dominant allele that results in increased susceptibility to breast cancer. In addition, these models predict that women who carry the allele are at greater risk of developing breast cancer at any age than are women who do not carry the allele. The increase in risk in carriers versus noncarriers does, however, decrease with increasing age. Based on the parameters of this model, age‐specific risks for a woman with one or more relatives affected with breast cancer at various ages at onset are given. Conclusions. These tables can be used for the purpose of counseling women at high risk of breast cancer development, that is, women with a family history of breast cancer.

Impact of screening for breast cancer in high-risk women on health-related quality of life

“…These risk categories represent the baseline objective CLTR of developing breast cancer, based on the tables of Claus (Claus et al, 1994). In these analyses, we did not take into account the women's cognitive or affective perceptions of their risk of developing breast cancer.…”

“…The first was their cumulative lifetime risk (CLTR) for developing breast cancer, based on the tables of Claus (Claus et al, 1994) and additional information about the family history of ovarian cancer (Kriege et al, 2001). Risk category 1 consisted of BRCA 1/2 mutation carriers (50 -85% CLTR), category 2 being women with high risk for breast cancer (30 -50% CLTR) and category 3 comprising women with moderate risk for breast cancer (15 -30% CLTR).…”

The Angelina effect: immediate reach, grasp, and impact of going public

“…This way of assessing family history is consistent with models of family risk assessment that focused on personal cancer history and the number of affected paternal and maternal first, second, and third degree of relatives. [13][14][15] Using the format suggested by Lipkus, 16 female respondents were asked to estimate their own lifetime breast or ovarian cancer risk, and males were asked to estimate a female relative's lifetime risk of developing these types of cancers, compared with others of their same race and age, indicating if they thought their risk (or a family member's risk) was higher, the same, or lower. We used a modification of Schwartz et al 's 17 three-item measure of numeracy previously used in a study of screening for mammography.…”

Breast cancer genetic counselling referrals: how comparable are the findings between the UK and the Netherlands?

“…We categorized this risk based on the UK's definition of risk categories. The counsellors' risk estimation was based on the Claus tables (Claus et al 1994) in both the WM and the MN. In the WM, calculation was performed with the Cyrillic system, in which the Claus tables are integrated (Cyril Chapman personal communication).…”