Modifiers of risk of hereditary breast and ovarian cancer (original) (raw)
Risch, H. A. et al. Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. Am. J. Hum. Genet.68, 700–710 (2001).Describes theBRCA1/BRCA2mutation frequency and associated risks of cancer in a large, population-based series of women with invasive ovarian cancer. ArticleCAS Google Scholar
Nuemann, H. P. H. et al. Pheochromocytomas, multiple endocrine neoplasia type 2, and von Hippel–Lindau disease. N. Engl. J. Med.329, 1531–1538 (1993). Article Google Scholar
Wohllk, N. et al. Relevance of RET proto-oncogene mutations in sporadic medullary thyroid carcinoma. J. Clin. Endocrinol. Metab.81, 3740–3745 (1996). CASPubMed Google Scholar
Aziz, S. et al. A genetic epidemiology study of carcinoma of the fallopian tube. Gynecol. Oncol.80, 341–345 (2001). ArticleCAS Google Scholar
Frank, T. S. et al. Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk. J. Clin. Oncol.16, 2417–2425 (1998). ArticleCAS Google Scholar
Struewing, J. P. et al. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N. Engl. J. Med.336, 1401–1408 (1997). ArticleCAS Google Scholar
Tonin, P. et al. Frequency of recurrent BRCA1 and BRCA2 mutations in 222 Ashkenazi Jewish breast cancer families. Nature Med.2, 1179–1183 (1996). ArticleCAS Google Scholar
Thorlacius, S. et al. Study of a single BRCA2 mutation with high carrier frequency in a small population. Am. J. Hum. Genet.60, 1079–1084 (1997). CASPubMedPubMed Central Google Scholar
Gorski, B. et al. BRCA1 founder mutations in Poland. Am. J. Hum. Genet.66, 1963–1968 (2000). ArticleCAS Google Scholar
Wacholder, S. et al. The kin-cohort study for estimating penetrance. Am. J. Epidemiol.148, 623–630 (1998). ArticleCAS Google Scholar
Warner, E. et al. Prevalence of BRCA mutations in an unselected population of Ashkenazi Jewish women with ovarian cancer. J. Natl Cancer Inst.91, 1241–1247 (1999). ArticleCAS Google Scholar
Moslehi, R. et al. BRCA1 and BRCA2 mutation analysis of 230 Ashkenazi Jewish women with ovarian cancer. Am J Hum Genet66, 1259–1272 (2000). ArticleCAS Google Scholar
Ford, D. et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. Am. J. Hum. Genet.62, 676–689 (1998).Uses a panel of 237 families with a high incidence of breast cancer to estimate the cumulative risks of breast and ovarian cancer in carriers ofBRCA1andBRCA2mutations. ArticleCAS Google Scholar
Easton, D. F. et al. Breast and ovarian cancer incidence in BRCA1 mutation carriers. Am. J. Hum. Genet.56, 265–271 (1995). ArticleCAS Google Scholar
Meijers-Heijboer, H. et al. Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation. N. Engl. J. Med.345, 159–164 (2001). ArticleCAS Google Scholar
Mazoyer, S. et al. A polymorphic stop codon in BRCA2. Nature Genet.14, 253–254 (1996). ArticleCAS Google Scholar
Thompson, D. & Easton, D. Variation in cancer risks, by mutation position, in BRCA2 mutation carriers. Am. J. Hum. Genet.68, 410–419 (2001).Uses a panel of 164 families withBRCA2mutations to estimate the risks of breast and ovarian cancer by position of mutation in theBRCA2gene. ArticleCAS Google Scholar
Gayther, S. A. et al. Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype–phenotype correlation. Nature Genet.11, 428–433 (1995).Uses a panel of 60 families withBRCA1mutations to correlate the position of the mutation within theBRCA1gene with the ratio of breast and ovarian cancers in the family. ArticleCAS Google Scholar
Fodor, F. L. et al. Frequency and carrier risk associated with common BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer patients. Am. J. Hum. Genet.63, 45–51 (1998). ArticleCAS Google Scholar
Sinilnikova, O. et al. Polymorphisms in BRCA1 and 17β–hydroxysteroid dehydrogenase 2 (EDH17B2) genes as modifiers of ovarian cancer risk in carriers of BRCA1 germline mutations. Am. J. Hum. Genet.69, S150 (2001). Google Scholar
Rebbeck, T. R., Jaffe, J. M., Walker, A. H., Wein, A. J. & Malkowicz, S. B. Modification of clinical presentation of prostate tumors by a novel genetic variant in CYP3A4. J. Natl Cancer Inst.90, 1225–1229 (1998). ArticleCAS Google Scholar
Jernstrom, H. et al. Genetic factors related to racial variation in plasma levels of insulin-like growth factor-1: implications for premenopausal breast cancer risk. Mol. Genet. Metab.72, 144–154 (2001). ArticleCAS Google Scholar
Chamberlain, N. L. et al. The length and location of CAG trinucleotide repeat in the androgen receptor N-terminal domain affect transactivation activities. Nucleic Acids Res.22, 3181–3186 (1994). ArticleCAS Google Scholar
Giguere, Y. et al. Short polyglutamine tracts in the androgen receptor are protective against breast cancer in the general population. Cancer Res.61, 5869–5874 (2001). CASPubMed Google Scholar
Spurdle, A. B. et al. Androgen receptor exon 1 CAG repeat length and breastcancer in women before age 40 years. J. Natl Cancer Inst.91, 961–966 (1999). ArticleCAS Google Scholar
Dunning, A. M. et al. No association between androgen or vitamin D receptor gene polymorphisms and risk of breast cancer. Carcinogenesis20, 2131–2135 (1999). ArticleCAS Google Scholar
Park, J. J. et al. Breast cancer susceptibility gene 1 (BRCA1) is a coactivator of the androgen receptor. Cancer Res.60, 5946–5949 (2000). CASPubMed Google Scholar
Rebbeck, T. R. et al. Modification of _BRCA1_-associated breast cancer risk by the polymorphic androgen-receptor CAG repeat. Am. J. Hum. Genet.64, 1371–1377 (1999).A case–control study ofBRCA1-mutation carriers, comparing the specific alleles of the androgen-receptor polymorphism and breast cancer risk. In addition, reference24shows this effect in the non-carrier breast cancer population. ArticleCAS Google Scholar
Dagan, E. et al. Androgen receptor CAG repeat lengths in Jewish Israeli women who are BRCA1/2 mutation carriers: relevance to breast/ovarian cancer morbidity. Am. J. Hum. Genet.69, 376 (2001). Google Scholar
Levine, D. A. & Boyd, J. The androgen receptor and genetic susceptiblity to ovarian cancer: results from a case series. Cancer Res.61, 908–911 (2001). CASPubMed Google Scholar
Helzlsouer, K. J. et al. Serum gonadotropins and steroid hormones and the development of ovarian cancer. JAMA274, 1926–1930 (1995). ArticleCAS Google Scholar
Yoshida–Komiy, H. et al. The steroid receptor coactivator SRC (p/CIP/RAC3/AIB1/ACTR/TRAM-1) is required for normal growth, puberty, female reproductive function, and mammary gland development. Proc. Natl Acad. Sci. USA97, 6379–6384 (2000). Article Google Scholar
Anzick, S. L. et al. AIB1, a steroid receptor coactivator amplified in breast and ovarian cancer. Science277, 965–968 (1997). ArticleCAS Google Scholar
Rebbeck, T. R. et al. Modification of _BRCA1_- and _BRCA2_-associated breast cancer risk by AIB1 genotype and reproductive history. Cancer Res.61, 5420–5424 (2001).Shows that the risk of breast cancer inBRCA1-mutation carriers is modified by theNCOA3polymorphism. CASPubMed Google Scholar
Patel, M. S. et al. Alleles of the estrogen receptor-α gene and an estrogen receptor co-transcriptional activator gene, amplified in breast cancer-1 (AIB-1) are associated with quantitative calcaneal ultrasound. J Bone Miner Res15, 2231–2239 (2000). ArticleCAS Google Scholar
Baumann, P. & West, S. C. Role of the human RAD51 protein in homologous recombination and double-stranded break repair. Trends Biochem. Sci.23, 247–251 (1998). ArticleCAS Google Scholar
Wang, W. et al. A single nucleotide polymorphism in the 5′ untranslated region of RAD51 and risk of cancer among BRCA1/2 mutation carriers. Cancer Epidemiol. Biomarkers Prev.10, 421–574 (2001). Google Scholar
Levy-Lehad, E. et al. A single nucleotide polymorphisms in the RAD51 gene modifies cancer risk in BRCA2 but not BRCA1 carriers. Proc. Natl Acad. Sci. USA98, 3232–3236 (2001). Article Google Scholar
Krontiris, T. et al. An association between the risk of cancer and mutations in the HRAS1 minisatellite locus. N. Engl. J. Med.329, 517–523 (1993).Reviews the evidence that the VNTR polymorphism, downstream ofHRAS1, modifies the risk of cancer at several sites. ArticleCAS Google Scholar
Phelan, C. M. et al. Ovarian cancer risk in BRCA1 carriers is modified by the HRAS1 variable number of tandem repeat (VNTR) locus. Nature Genet.12; 309–311 (1996).This study ofBRCA1-mutation carriers with and without ovarian cancer shows that rare alleles of the VNTR polymorphism, downstream ofHRAS1, increases the risk of ovarian cancer. ArticleCAS Google Scholar
Narod, S. A. et al. Increasing incidence of breast cancer in family with BRCA1 mutation. Lancet341, 1101–1102 (1993). | PubMed | ArticleCAS Google Scholar
Neuhausen, S. L. et al. Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study. Am. J. Hum. Genet.62, 1381–1388 (1998). ArticleCAS Google Scholar
Narod, S. A. et al. Risk modifiers in carriers of BRCA1 mutations. Int. J. Cancer64, 394–398 (1995). ArticleCAS Google Scholar
Rebbeck, T. R. et al. Reduction in breast cancer risk after bilateral prophylactic oophorectomy in BRCA1 mutation carriers. J. Natl Cancer Inst.91, 1475–1479 (1999).A historical cohort study that found a significant reduction in breast cancer risk inBRCA1-mutation carriers following oophorectomy. ArticleCAS Google Scholar
Eisen, A. et al. Reduction in breast cancer risk following bilateral prophylactic oophorectomy in BRCA1 and BRCA2 mutation carriers. Am. J. Hum. Genet.67, 58 (2000). Google Scholar
Beral, V. & Reeves, G. Childbearing, oral contraceptive use and breast cancer. Lancet341, 1102 (1993). ArticleCAS Google Scholar
Russo, J. et al. Influence of age and parity on the development of the human breast. Breast Cancer Res. Treat.23, 211–218 (1992). ArticleCAS Google Scholar
Johannson, O., Loman, N., Borg, A. & Olsson, H. Pregnancy-associated breast cancer in BRCA1 and BRCA2 germline mutation carriers. Lancet352, 1359–1360 (1998). Article Google Scholar
Jernstrom, H. et al. Pregnancy increases the risk of early onset breast cancer in BRCA1 and BRCA2 carriers. Lancet354, 1846–1850 (1999).A case–control study that found that pregnancy significantly increased the risk of breast cancer up to age 40 in women withBRCA1mutations. ArticleCAS Google Scholar
Jernstrom, H. et al. Breast-feeding and the risk of breast cancer in BRCA1 and BRCA2 carriers. Am. J. Hum. Genet.69, S418 (2001). Google Scholar
Ursin, G. et al. Does oral contraceptive use increase the risk of breast cancer in women with BRCA1/BRCA2 mutations more than in other women? Cancer Res.57, 3678–3681 (1997). CASPubMed Google Scholar
Grabrick, D. M. et al. Risk of breast cancer with oral contraceptive use in women with a family history of breast cancer. JAMA284, 1791–1798 (2000). ArticleCAS Google Scholar
Collaborative Group on Hormonal Factors in Breast Cancer. Breast cancer and hormonal contraceptives: collaborative re-analysis of individual data on 53,297 women with breast cancer and 100,239 women without breast cancer from 54 epidemiological studies. Lancet347, 1713–1727 (1996).
Narod, S. A. et al. Oral contraceptives and the risk of hereditary ovarian cancer. N. Engl. J. Med.339, 424–428 (1998).An international case–control study that showed that the use of oral contraceptives was associated with a significant decrease in the risk of ovarian cancer amongBRCA1-mutation carriers. ArticleCAS Google Scholar
Narod, S. A. et al. Tubal ligation and risk of ovarian cancer carriers of BRCA1 or BRCA2 mutations: a case–control study. Lancet357, 1467–1470 (2001).An international case–control study that showed that tubal ligation was associated with a decrease in the risk of ovarian cancer. Reference60is a large prospective study (of nurses) that showed that tubal ligation dramatically decreased the risk of subsequent ovarian cancer. ArticleCAS Google Scholar
Narod, S. A., Sun, P. & Risch, H. Ovarian cancer, oral contraceptives, and BRCA mutations. N. Engl. J. Med.345, 1706–1707 (2001). ArticleCAS Google Scholar
Modan, B. et al. Parity, oral contraceptives, and the risk of ovarian cancer among carriers and non-carriers of a BRCA1 or BRCA2 mutation. N. Engl. J. Med.345, 235–240 (2001). ArticleCAS Google Scholar
Hankinson, S. E. et al. Tubal ligation, hysterectomy and the risk of ovarian cancer. JAMA270, 2813–2818 (1993). ArticleCAS Google Scholar
Piek, J. M. J. et al. Tubal ligation and risk of ovarian cancer. Lancet358, 844 (2001). ArticleCAS Google Scholar
Fisher, B. et al. Tamoxifen for prevention of breast cancer: report of the National Surgical Adjuvant Breast and Bowel Project PI study. J. Natl Cancer Inst.90, 1371–1388 (1998).A large randomized trial of tamoxifen use in healthy women showed that tamoxifen use reduced the incidence of new cases of breast cancer by approximately 50%. ArticleCAS Google Scholar
Early Breast Cancer Trialists' Collaborative Group. Tamoxifen for early breast cancer: an overview of the randomized trials. Lancet351, 1451–1467 (1998).
King, M.-C. et al. Tamoxifen and breast cancer incidence among women with inherited mutations in BRCA1 and BRCA2. National Surgical Adjuvant Breast and Bowel Project (NSABP-P1) Breast Cancer Prevention Trial. JAMA286, 2251–2256 (2001).This describes tamoxifen use in the subset of 19BRCA1-orBRCA2-mutation carriers in the cohort study in reference61who developed breast cancer. ArticleCAS Google Scholar
Narod, S. A. et al. Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 carriers. Lancet356, 1876–1881 (2000).A large, international case–control study, which shows that tamoxifen use decreases the risk of contralateral breast cancer by approximately 50% in carriers ofBRCA1orBRCA2mutations. ArticleCAS Google Scholar
Steinberg, K. et al. A meta-analysis of the effect of estrogen replacement therapy on the risk of breast cancer. JAMA265, 1985–1990 (1991). ArticleCAS Google Scholar
Powles, T. et al. Interim analysis of the incidence of breast cancer in the Royal Marsden Hospital tamoxifen randomised chemoprevention trial. Lancet352, 98–101 (1998). ArticleCAS Google Scholar
Veronesi, U. et al. Prevention of breast cancer with tamoxifen: preliminary findings from the Italian randomised trial among hysterectomised women. Lancet352, 93–97 (1998). ArticleCAS Google Scholar
The Breast Cancer Linkage Consortium. Cancer risks in BRCA2 mutation carriers. J. Natl Cancer Inst.91, 1310–1316 (1999).
Fan, S. et al. BRCA1 inhibition of estrogen receptor signalling in transfected cells. Science284, 1354–1356 (1999). ArticleCAS Google Scholar
Zheng, L. et al. BRCA1 mediates ligand-independent transcriptional repression of the estrogen receptor. Proc. Natl Acad. Sci. USA98, 9587–9592 (2001). ArticleCAS Google Scholar
Annab, L. A. et al. Increased survival by inhibition of BRCA1 using an antisense approach in an estrogen responsive ovarian carcinoma cell line. Breast Cancer Res.2, 139–148 (2000). ArticleCAS Google Scholar
Hoeijmakers, J. H. Genomic maintenance mechanisms for preventing cancer. Nature411, 366–374 (2001). ArticleCAS Google Scholar
Orelli, B. J. & Bishop, D. K. BRCA2 and homologous recombination. Breast Cancer Res.3, 294–298 (2001). ArticleCAS Google Scholar
Combs, G. F. & Gray, W. P. Chemopreventive agents: selenium. Pharmacol. Ther.79, 179–192 (1998). ArticleCAS Google Scholar
Kavanagh, K. T. et al. Green tea extracts decrease carcinogen-induced mammary tumor burden in rats and rate of breast cancer cell proliferation in culture. J. Cell. Biochem.82, 387–398 (2001). ArticleCAS Google Scholar
Nakachi, K. et al. Preventive effects of drinking green tea on cancer and cardiovascular disease: epidemiological evidence for multiple targeting prevention. Biofactors13, 49–54 (2000). ArticleCAS Google Scholar
Bradlow, H. L. et al. Multifunctional aspects of the action of indole—3-carbinol as an antitumour agent. Cancer Prevention: novel nutrient and pharmaceutical developments. Ann. NY Acad. Sci.889, 204–213 (1999). ArticleCAS Google Scholar