Approximately one in 400 to 800 individuals in the general population may carry a pathogenic germline mutation in BRCA1 or BRCA2. Nearly 2,000 distinct mutations and sequence variations in BRCA1 and BRCA2 have already been described. These proteins help repair damaged DNA and, therefore, play a role in ensuring the stability of the cell’s genetic material.
BRCA1 and BRCA2 are human genes that produce tumor suppressor proteins. In the early 1990s, a susceptibility gene BRCA1 for breast cancer was mapped by genetic linkage to the long arm of chromosome 17, and the second gene, BRCA2, was localized to chromosome 13. Almost 25 years ago, the first quantitative evidence that breast cancer segregated as an autosomal dominant trait was reported. Cancer, 117(23): 5334-43.Įpidemiologic studies have clearly established the role of family history as an important risk factor for breast and ovarian cancer. Reported referral for genetic counseling or BRCA1/2 testing among United States physicians: A Vignette-Based Study. Trivers KF, Baldwin LM, Miller JW, et al. Impairment of BRCA1–related DNA double-strand break repair leads to ovarian aging in mice and humans. Titus S, Li F, Stobezki R, Akula K, et al. Breast cancer risk among male BRCA1 and BRCA2 mutation carriers. Preimplantation genetic diagnosis for BRCA1/2-a novel clinical experience. BRCA1 and BRAC2: different roles in a common pathway of genome protection. Fertility preservation and pregnancy in women with and without BRCA mutation-positive breast cancer. Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. Association of BRCA1 mutations with occult primary ovarian insufficiency: a possible explanation for the link between infertility and breast/ovarian cancer risks. Annual screening strategies in BRCA1 and BRCA2 gene mutation carriers: a comparative effectiveness analysis. Clinical characteristics and outcomes of BRCA-associated ovarian cancer: genotype and survival. Age of natural menopause in BRCA1/2 mutation carriers. Prophylactic mastectomy in BRCA1/2 mutation carriers and women at risk of hereditary breast cancer: long-term experiences at the Rotterdam Family Cancer Clinic. Heemskerk-Gerritsen BA, Brekelmans CT, Menke-Pluymers MB, et al. Hereditary gynecological malignancies: advances in screening and treatment.
Frequency of premature menopause in women who carry a BRCA1 or BRCA2 mutation. Annals of Oncology, 18 (Supplement 6):vi93-vi98.įinch A, Valentini A, Greenblatt E, et al. Founder mutations in BRCA1 and BRCA2 genes. Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. Breast Cancer Res Treat, 126(3):771-8.ĭomchek SM, Friebel TM, Singer CF, et al. Mutations in BRCA2 and PALB2 in male breast cancer cases from the United States. Annals of Surgical Oncology, 19(13): 4003-11.ĭing YC, Steele L, Kuan CJ, et al. Cognitive and Psychological Impact of BRCA Genetic Counseling in Before and After Definitive Surgery Breast Cancer Patients. Meta-analysis of BRCA1 and BRCA2 penetrance. Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program. Journal of the Pancreas, 14(4):325-8.īrose MS, Rebbeck TR, Calzone KA, et al. Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer. BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancerīolton, KL, Chenevix-Trench G, Goh C. National Comprehensive Cancer Network (NCCN).Center for Disease Control and Prevention (CDC).American Society of Clinical Oncology.American College of Obstetrics and Gynecology (ACOG).
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