Relative Risk of Developing

Invasive Carcinoma Breast at Risk Modifiers of Risk

Nonproliferative Breast Changes 1.0 Neither

Duct ectasia

Cysts

Apocrine change

Mild hyperplasia

Adenosis

Fibroadenoma without complex features

Proliferative Disease Without Atypia 1.5–2.0 Both breasts Increased risk if there is a family history of breast carcinoma

Moderate or florid hyperplasia Decreased risk 10 years after biopsy

Sclerosing adenosis

Papilloma

Complex sclerosing lesion (radial scar)

Fibroadenoma with complex features

Proliferative Disease with Atypia 4.0–5.0 Both breasts Increased risk if there is a family history of breast carcinoma

Atypical ductal hyperplasia Increased risk if premenopausal

Atypical lobular hyperplasia Decreased risk 10 years after biopsy for ALH

Carcinoma in Situ 8.0–10.0

Lobular carcinoma in situ Both breasts Treatment (tamoxifen, bilateral mastectomy)

Ductal carcinoma in situ * Ipsilateral breast Treatment (tamoxifen, surgery to eradicate the lesion,

radiation therapy)

*This risk applies to low-grade DCIS originally misdiagnosed as benign disease and followed without treatment. The risk for progression of high-grade DCIS is presumed to be greater

than this.

INCIDENCE AND EPIDEMIOLOGY

After remaining constant for many years (except for a transient rise in 1974 attributed to increased awareness after the publicity surrounding Betty Ford and Happy Rockefeller developing

breast cancer), the incidence of breast cancer

Figure 23-13Breast cancer incidence and mortality rates for women over 50 years of age. Rates are per 100,000 women and are age-adjusted to the 2000 U.S. standard million population.

(SEER Cancer Statistics Review 1973–1999; http://seer.cancer.gov/.)

Figure 23-14Change in stage of breast cancer at presentation from 1983 to 1996. (SEER Cancer Statistics Review, http://seer.cancer.gov/.)

TABLE 23-3-- BRCA1 and BRCA2

BRCA1 BRCA2

Chromosome 17q21 13q12.3

Gene size 81 kb 84 kb

Protein size 1863 amino acids 3418 amino acids

Function Tumor suppressor Tumor suppressor

Transcriptional regulation Transcriptional regulation

Role in DNA repair Role in DNA repair

Mutations >500 identified >300 identified

Mutations in population about 0.1% about 0.1%

Risk of breast cancer 60–80% 60–80%

Age at onset Younger age (40s to 50s) 50 years

Families with breast cancer due to a single gene (%) 52% 32%

Families with breast and ovarian cancer (%) 81% (20–40% risk) 14% (10–20% risk)

Families with male and female breast cancer <20% 76%

Risk of other tumors (varies with specific mutation) Prostate, colon, pancreas Prostate, pancreas, stomach, melanoma, colon

Mutations in sporadic breast cancer Very rare (<5%) Very rare (<5%)

Epidemiology Specific mutations are found in certain

ethnic groups

Specific mutations are found in certain ethnic groups

Pathology of breast cancers Greater incidence of medullary carcinomas

(13%), poorly differentiated carcinomas,

ER-, PR-, and Her2/neu-negative

carcinomas, carcinomas with p53 mutations

Similar to sporadic breast cancers

Additional information about these genes can be found at http://www.ncbi.nlm.nih.gov/.

cancer, and cataracts. Current clinical trials are attempting to identify other selective estrogen receptor modulators (SERMs) that have the same benefit but fewer side effects.

Date: 2016-04-22; view: 597