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
Open accessAbstract
Germline mutations in BRCA1 and BRCA2 confer high risks of breast and ovarian cancer, but the average magnitude of these risks is uncertain and may depend on the context. Estimates based on multiple-case families may be enriched for mutations of higher risk and/or other familial risk factors, whereas risk estimates from studies based on cases unselected for family history have been imprecise. We pooled pedigree data from 22 studies involving 8,139 index case patients unselected for family history with female (86%) or male (2%) breast cancer or epithelial ovarian cancer (12%), 500 of whom had been found to carry a germline mutation in BRCA1 or BRCA2. Breast and ovarian cancer incidence rates for mutation carriers were estimated using a modified segregation analysis, based on the occurrence of these cancers in the relatives of mutation-carrying index case patients. The average cumulative risks in BRCA1-mutation carriers by age 70 years were 65% (95% confidence interval 44%-78%) for breast cancer and 39% (18%-54%) for ovarian cancer. The corresponding estimates for BRCA2 were 45% (31%-56%) and 11% (2.4%-19%). Relative risks of breast cancer declined significantly with age for BRCA1-mutation carriers (P trend.0012) but not for BRCA2-mutation carriers. Risks in carriers were higher when based on index breast cancer cases diagnosed at <35 years of age. We found some evidence for a reduction in risk in women from earlier birth cohorts and for variation in risk by mutation position for both genes. The pattern of cancer risks was similar to those found in multiple-case families, but their absolute magnitudes were lower, particularly for BRCA2. The variation in risk by age at diagnosis of index case is consistent with the effects of other genes modifying cancer risk in carriers.
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The lifetime risk of developing breast cancer in BRCA1/2 mutation carriers ranges from 45 to 80%.
“the lifetime risk of developing breast cancer in BRCA1/2 mutation carriers ranges from 45 to 80% [8–11]”
From Fear of cancer recurrence in breast cancer survivors carrying a BRCA1 or 2 genetic mutation : a cross-sectional study (2024) · cites this paper as [9]
The Results report cumulative breast-cancer risk by age 70 of 45% for BRCA2 carriers and 65% for BRCA1 carriers. The claimed 80% upper end is not an average risk estimate in this paper; it is approximately the upper confidence limit for the BRCA1 estimate reported in the Abstract (78%). The paper also specifies risk by age 70 rather than lifetime risk without an age limit. (LLM, conf=0.84)
Experimental — accuracy not yet measuredPeople heterozygous for BRCA1 or BRCA2 mutations have a 60-80% lifetime risk of breast cancer.
“Heterozygous carriers of mutations in the hereditary breast cancer genes BRCA1 or BRCA2 have a 60–80% lifetime risk of breast cancer [1].”
From Hereditary Breast Cancer and the BRCA1-Associated FANCJ/BACH1/BRIP1 (2011) · cites this paper as [1]
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Cites
Cancer Incidence in Five Continents
Doll, R., Muir, C. S., & Waterhouse, J. A. H. (1970) · Springer eBooks · doi:10.1007/978-3-642-85851-2 · Cited by 8,485 · see citing works
A Strong Candidate for the Breast and Ovarian Cancer Susceptibility Gene BRCA1
Miki, Y., Swensen, J. J., Shattuck-Eidens, D. M., Futreal, P. A., Harshman, K., Tavtigian, S. V., Liu, Q., Cochran, C., Bennett, L. M., Ding, W., et al. (1994) · Science · doi:10.1126/science.7545954 · Cited by 6,069 · see citing works
Self-citationCancer Incidence in Five Continents
(1966) · doi:10.1007/978-3-642-85849-9 · Cited by 5,936 · see citing works
Identification of the breast cancer susceptibility gene BRCA2
Wooster, R., Bignell, G. R., Lancaster, J., Swift, S., Seal, S., Mangion, J., Collins, N., Gregory, S. G., Gumbs, C. E., Micklem, G., et al. (1995) · Nature · doi:10.1038/378789a0 · Cited by 3,645 · see citing works
Self-citationFord, D., Easton, D., Stratton, M. R., Narod, S., Goldgar, D., Devilee, P., Bishop, D., Weber, B., Lenoir, G., Chang-Claude, J., et al. (1998) · American Journal of Human Genetics · doi:10.1086/301749 · Cited by 2,766 · see citing works
Self-citationThe risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews.
Struewing, J., Hartge, P., Wacholder, S., Baker, S. M., Berlin, M., McAdams, M., Timmerman, M. M., Brody, L., & Tucker, M. A. (1997) · New England Journal of Medicine · doi:10.1056/nejm199705153362001 · Cited by 2,399 · see citing works
Risks of cancer in BRCA1-mutation carriers
FORD, D. (1994) · The Lancet · doi:10.1016/s0140-6736(94)91578-4 · Cited by 1,850 · cited 3× · see citing works
“Breast and ovarian cancer risk estimates are generally higher in studies that are based on multiple-case families (Ford et al. 1994, 1998; Easton et al. 1995) than in those that are based on unselected series (Thorlacius et al. 1998; Hopper et al. 1999; Warner et al. 1999; Anglian Breast Cancer…”
BackgroundInfluentialBreast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium.
Easton, D. F., Ford, D., & Bishop, D. T. (1995) · PubMed · Cited by 1,580 · see citing works
Self-citationEaston, D. F., Bishop, D. T., Ford, D., & Crockford, G. P. (1993) · Europe PMC (PubMed Central) · Cited by 1,243 · see citing works
Self-citationRisch, H. A., McLaughlin, J. R., Cole, D. E. C., Rosen, B. P., Bradley, L., Kwan, E., Jack, E., Vesprini, D., Kuperstein, G., Abrahamson, J., et al. (2001) · The American Journal of Human Genetics · doi:10.1086/318787 · Cited by 985 · see citing works
Self-citationPrevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer.
Peto, J., Collins, N., Barfoot, R., Seal, S., Warren, W., Rahman, N., Easton, D., Evans, C., Deacon, J., & Stratton, M. R. (1999) · Journal of the National Cancer Institute · doi:10.1093/jnci/91.11.943 · Cited by 909 · see citing works
Self-citationThe complete BRCA2 gene and mutations in chromosome 13q-linked kindreds
Tavtigian, S. V., Simard, J., Rommens, J. M., Couch, F. J., Shattuck-Eidens, D. M., Neuhausen, S. L., Merajver, S. D., Thorlacius, S., Offit, K., Stoppa‐Lyonnet, D., et al. (1996) · Nature Genetics · doi:10.1038/ng0396-333 · Cited by 838 · see citing works
Self-citationPrograms for pedigree analysis: Mendel, Fisher, and dGene
Lange, K. L., Weeks, D. E., Boehnke, M., MacCluer, J. W., & MacCluer, J. W. (1988) · Genetic Epidemiology · doi:10.1002/gepi.1370050611 · Cited by 616 · see citing works
Anglian Breast Cancer Study Group (2000) · British Journal of Cancer · doi:10.1054/bjoc.2000.1407 · Cited by 602 · see citing works
Gayther, S. A., Warren, W., Mazoyer, S., Russell, P. A., Harrington, P. A., Chiano, M. N., Seal, S., Hamoudi, R., van Rensburg, E. J., Dunning, A. M., et al. (1995) · Nature Genetics · doi:10.1038/ng1295-428 · Cited by 497 · see citing works
Self-citationVariation in Cancer Risks, by Mutation Position, in BRCA2 Mutation Carriers
Thompson, D. J., & Easton, D. F. (2001) · The American Journal of Human Genetics · doi:10.1086/318181 · Cited by 492 · see citing works
Self-citationGayther, S. A., Mangion, J., Russell, P. A., Seal, S., Barfoot, R., Ponder, B. A. J., Stratton, M. R., & Easton, D. F. (1997) · Nature Genetics · doi:10.1038/ng0197-103 · Cited by 442 · see citing works
Self-citationEaston, D. F., Peto, J., & Babiker, A. G. (1991) · Statistics in Medicine · doi:10.1002/sim.4780100703 · Cited by 434 · see citing works
Self-citationCancer incidence in five continents. Volume IX.
Curado, M. P., Edwards, B. K., Shin, H. R., Storm, H. H., Ferlay, J., Heanue, M., & Boyle, P. (2008) · PubMed · Cited by 425 · see citing works
Warner, E., Foulkes, W., Goodwin, P., Meschino, W., Blondal, J., Paterson, C., Ozçelik, H., Goss, P., Allingham-Hawkins, D., Hamel, N., et al. (1999) · Journal of the National Cancer Institute · doi:10.1093/jnci/91.14.1241 · Cited by 421 · see citing works
Self-citationPopulation-based study of risk of breast cancer in carriers of BRCA2 mutation
Thorlacius, S., Struewing, J. P., Hartage, P., Ólafsdóttir, G. H., Sigvaldason, H., Tryggvadóttír, L., Wacholder, S., Tulinius, H., & Eyfjord, J. E. (1998) · The Lancet · doi:10.1016/s0140-6736(98)03300-5 · Cited by 348 · see citing works
Self-citationBRCA1 and BRCA2 mutation analysis of 208 Ashkenazi Jewish women with ovarian cancer.
Moslehi, R., Chu, W., Karlan, B., Fishman, D., Risch, H., Fields, A., Smotkin, D., ben-David, Y., Rosenblatt, J., Russo, D., et al. (2000) · American Journal of Human Genetics · doi:10.1086/302853 · Cited by 341 · see citing works
Self-citationGenetic linkage analysis in familial breast and ovarian cancer: Results from 214 families
Easton, D., Bishop, D., Ford, D., Crockford, G., Haites, N., Milner, B. J., Allan, L., King, M., Bowcock, A. M., Anderson, L., et al. (1993) · UCL Discovery (University College London) · Cited by 309 · see citing works
Self-citationBreast and ovarian cancer incidence in BRCA1-mutation carriers
Easton, D., Ford, D., Bishop, D., Haites, N., Milner, B., Allan, L., Ponder, B., Peto, J., Smith, S., Ford, D., et al. (1995) · UCL Discovery (University College London) · Cited by 301 · see citing works
Self-citationAntoniou, A. C., Pharoah, P. D. P., McMullan, G., Day, N. E., Ponder, B. A. J., & Easton, D. (2001) · Genetic Epidemiology · doi:10.1002/gepi.1014 · Cited by 289 · see citing works
Self-citationMutation analysis of BRCA1 and BRCA2 in a male breast cancer population.
Friedman, L. S., Gayther, S. A., Kurosaki, T., Gordon, D., Noble, B., Casey, G., Ponder, B. A. J., & Anton‐Culver, H. (1997) · PubMed · Cited by 275 · see citing works
Self-citationLoman, N., Johannsson, O., Kristoffersson, U., Olsson, H., & Borg, Å. (2001) · Journal of the National Cancer Institute · doi:10.1093/jnci/93.16.1215 · Cited by 274 · see citing works
Self-citationHopper, J. L., Southey, M. C., Dite, G. S., Jolley, D. J., Giles, G. G., McCredie, M. R. E., Easton, D. F., & Venter, D. J. (1999) · PubMed · Cited by 260 · see citing works
Self-citationModification of BRCA1-associated breast cancer risk by the polymorphic androgen-receptor CAG repeat.
Rebbeck, T. R., Kantoff, P. W., Krithivas, K., Neuhausen, S., Blackwood, M. A., Godwin, A. K., Daly, M. B., Narod, S. A., Garber, J. E., Lynch, H. T., et al. (1999) · The American Journal of Human Genetics · doi:10.1086/302366 · Cited by 252 · see citing works
Self-citationOn the use of familial aggregation in population-based case probands for calculating penetrance.
Begg, C. (2002) · Journal of the National Cancer Institute · doi:10.1093/jnci/94.16.1221 · Cited by 226 · see citing works
The lifetime risks of breast cancer in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations.
Satagopan, J. M., Offit, K., Foulkes, W. D., Robson, M. E., Wacholder, S., Eng, C. M., Karp, S. E., & Begg, C. B. (2001) · PubMed · Cited by 218 · see citing works
NISCHAN, P. (1983) · Food / Nahrung · doi:10.1002/food.19830270910 · Cited by 203 · see citing works
Phelan, C. M., Rebbeck, T. R., Weber, B. L., Devilee, P., Ruttledge, M. H., Lynch, H. T., Lenoir, G., Stratton, M. R., Easton, D. F., Ponder, B. A. J., et al. (1996) · Nature Genetics · doi:10.1038/ng0396-309 · Cited by 202 · see citing works
Self-citationSyrjäkoski, K. (2000) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/92.18.1529 · Cited by 199 · see citing works
Self-citationCancer incidence in five continents, vol. VI
Levi, F. (1993) · European Journal of Cancer · doi:10.1016/0959-8049(93)90227-7 · Cited by 197 · see citing works
Risk models for familial ovarian and breast cancer
Antoniou, A. C., Gayther, S. A., Stratton, J. F., Ponder, B. A. J., & Easton, D. F. (2000) · Genetic Epidemiology · doi:10.1002/(sici)1098-2272(200002)18:2 · Cited by 192 · see citing works
Self-citationBRCA1 and BRCA2 mutations in a population-based study of male breast cancer
Basham, V. M., Lipscombe, J., Ward, J. M., Gayther, S. A., Ponder, B. A. J., Easton, D. F., & Pharoah, P. D. (2001) · Breast Cancer Research · doi:10.1186/bcr419 · Cited by 191 · see citing works
Self-citationVariation in BRCA1 cancer risks by mutation position.
Thompson, D. J., & Easton, D. F. (2002) · PubMed · Cited by 187 · see citing works
Self-citationLevy‐Lahad, E., Lahad, A., Eisenberg, S., Dagan, E., Paperna, T., Kasinetz, L., Catane, R., Kaufman, B., Beller, U., Renbaum, P., et al. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.051624098 · Cited by 182 · see citing works
Higashi, Y., Kanekura, T., & Kanzaki, T. (2000) · International Journal of Cancer · doi:10.1002/(sici)1097-0215(20000601)86:5 · Cited by 155 · see citing works
Effect of BRCA1 and BRCA2 on the association between breast cancer risk and family history.
Claus, E. B., Schildkraut, J., Iversen, E., Berry, D. A., & Parmigiani, G. (1998) · Journal of the National Cancer Institute · doi:10.1093/jnci/90.23.1824 · Cited by 127 · see citing works
Rebbeck, T. R., Wang, Y. L., Kantoff, P. W., Krithivas, K., Neuhausen, S. L., Godwin, A. K., Daly, M., Narod, S. A., Brunet, J., Vesprini, D., et al. (2001) · PubMed · Cited by 118 · see citing works
Self-citationSouthey, M., Tesoriero, A., Andersen, C. R., Jennings, K. M., Brown, S., Dite, G., Jenkins, M., Osborne, R., Maskiell, J., Porter, L., et al. (1999) · British Journal of Cancer · doi:10.1038/sj.bjc.6690008 · Cited by 98 · see citing works
Self-citationPrevalence of Mutations in the BRCA1 Gene Among Chinese Patients With Breast Cancer
Tang, N. L. S. (1999) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/91.10.882 · Cited by 82 · see citing works
Self-citationCharacteristics of BRCA1 mutations in a population-based case series of breast and ovarian cancer
Anton‐Culver, H., Cohen, P., Gildea, M., & Ziogas, A. (2000) · European Journal of Cancer · doi:10.1016/s0959-8049(00)00110-6 · Cited by 80 · see citing works
Self-citation3-Methylglutaconic Aciduria Type I Is Caused by Mutations in AUH
IJlst, L., Loupatty, F. J., Ruiter, J. P. N., Durán, M., Lehnert, W., & Wanders, R. J. A. (2002) · The American Journal of Human Genetics · doi:10.1086/344712 · Cited by 75 · see citing works
Runnebaum, I. B., Wang‐Gohrke, S., Vesprini, D., Kreienberg, R., Lynch, H. T., Moslehi, R., Ghadirian, P., Weber, B., Godwin, A. K., Risch, H. A., et al. (2001) · Pharmacogenetics · doi:10.1097/00008571-200110000-00010 · Cited by 52 · see citing works
Self-citationBRCA1 mutations in southern England
Eccles, D., Englefield, P., Soulby, M., & Campbell, I. (1998) · British Journal of Cancer · doi:10.1038/bjc.1998.366 · Cited by 30 · see citing works
Self-citationGenetic epidemiology of early onset breast cancer.
Eccles, D., Marlow, A. J., Royle, G. T., Collins, A. R., & Morton, N. E. (1994) · Journal of Medical Genetics · doi:10.1136/jmg.31.12.944 · Cited by 23 · see citing works
Self-citationBenedetti, V. M. D., Radice, P., Pasini, B., Stagi, L., Pensotti, V., Mondini, P., Manoukian, S., Conti, A., Spatti, G., Rilke, F. O., et al. (1998) · PubMed · Cited by 23 · see citing works
Self-citation9 Extension of the lod score: The mod score
Clerget‐Darpoux, F. (2001) · Advances in genetics · doi:10.1016/s0065-2660(01)42018-9 · Cited by 11 · see citing works
Risk Models for Familial Breast and Ovarian Cancer
Antoniou, A. C., Easton, D. F., Gayther, S. A., Stratton, J. F., & Ponder, B. (1999) · Annals of Human Genetics · doi:10.1046/j.1469-1809.1999.63403511.x · Cited by 8 · see citing works
Self-citation
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5 of the 57 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
Triple-negative breast cancer: challenges and opportunities of a heterogeneous disease
Bianchini, G., Balko, J. M., Mayer, I. A., Sanders, M. E., & Gianni, L. (2016) · Nature Reviews Clinical Oncology · doi:10.1038/nrclinonc.2016.66 · Cited by 3,079 · see citing works
Kuchenbaecker, K. B., Hopper, J. L., Barnes, D. R., Phillips, K.-A., Mooij, T. M., Roos-Blom, M.-J., Jervis, S., van Leeuwen, F. E., Milne, R. L., Andrieu, N., et al. (2017) · JAMA · doi:10.1001/jama.2017.7112 · Cited by 2,954 · see citing works
Self-citationPrimary breast cancer: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up
Aebi, S. P., Davidson, T., Gruber, G., & Castiglione, M. (2010) · Annals of Oncology · doi:10.1093/annonc/mdq159 · Cited by 2,849 · see citing works
Global patterns of cancer incidence and mortality rates and trends
Jemal, A., Center, M. M., DeSantis, C., & Ward, E. M. (2010) · Cancer Epidemiology, Biomarkers & Prevention · doi:10.1158/1055-9965.epi-10-0437 · Cited by 2,778 · see citing works
American Cancer Society Guidelines for Breast Screening with MRI as an Adjunct to Mammography
Saslow, D., Boetes, C., Burke, W., Harms, S. E., Leach, M. O., Lehman, C. D., Morris, E. A., Pisano, E. D., Schnall, M. D., Sener, S. F., et al. (2007) · CA A Cancer Journal for Clinicians · doi:10.3322/canjclin.57.2.75 · Cited by 2,632 · see citing works
Self-citationGenome-wide association study identifies novel breast cancer susceptibility loci
Easton, D. F., Pooley, K. A., Dunning, A. M., Pharoah, P. D. P., Thompson, D., Ballinger, D. G., Struewing, J. P., Morrison, J., Field, H., Luben, R., et al. (2007) · Nature · doi:10.1038/nature05887 · Cited by 2,319 · see citing works
Self-citationBreast and Ovarian Cancer Risks Due to Inherited Mutations in <i>BRCA1</i> and <i>BRCA2</i>
King, M.-C., Marks, J. H., & Mandell, J. B. (2003) · Science · doi:10.1126/science.1088759 · Cited by 2,229 · see citing works
Jayson, G. C., Kohn, E. C., Kitchener, H. C., & Ledermann, J. A. (2014) · The Lancet · doi:10.1016/s0140-6736(13)62146-7 · Cited by 1,853 · see citing works
Meta-Analysis of <i>BRCA1</i> and <i>BRCA2</i> Penetrance
Chen, S., & Parmigiani, G. (2007) · Journal of Clinical Oncology · doi:10.1200/jco.2006.09.1066 · Cited by 1,802 · see citing works
53BP1 Inhibits Homologous Recombination in Brca1-Deficient Cells by Blocking Resection of DNA Breaks
Bunting, S. F., Callén, E., Wong, N., Chen, H.-T., Polato, F., Gunn, A., Bothmer, A., Feldhahn, N., Fernandez-Capetillo, O., Cao, L., et al. (2010) · Cell · doi:10.1016/j.cell.2010.03.012 · Cited by 1,671 · see citing works
The personal and clinical utility of polygenic risk scores
Torkamani, A., Wineinger, N. E., & Topol, E. J. (2018) · Nature Reviews Genetics · doi:10.1038/s41576-018-0018-x · Cited by 1,605 · see citing works
Primary breast cancer: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up
Senkus, E., Kyriakides, S., Ohno, S., Penault-Llorca, F. M., Poortmans, P. M., Rutgers, E. J. T., Zackrisson, S., & Cardoso, F. (2015) · Annals of Oncology · doi:10.1093/annonc/mdv298 · Cited by 1,611 · see citing works
Epidemiology of ovarian cancer: a review
Reid Brett, M., Reid Brett, M., Permuth, J. B., Sellers Thomas, A., Permuth, J. B., & Sellers Thomas, A. (2017) · Cancer Biology and Medicine · doi:10.20892/j.issn.2095-3941.2016.0084 · Cited by 1,536 · see citing works
Hunter, D. J., Kraft, P., Jacobs, K. B., Cox, D. G., Yeager, M., Hankinson, S. E., Wacholder, S., Wang, Z., Welch, R. A., Hutchinson, A. A., et al. (2007) · Nature Genetics · doi:10.1038/ng2075 · Cited by 1,463 · see citing works
Awareness and current knowledge of breast cancer
Akram, M., Iqbal, M., Daniyal, M., & Khan, A. U. (2017) · Biological Research · doi:10.1186/s40659-017-0140-9 · Cited by 1,418 · see citing works
Kuhl, C. K., Schrading, S., Leutner, C., Morakkabati-Spitz, N., Wardelmann, E., Fimmers, R., Kuhn, W. C., & Schild, H. H. (2005) · Journal of Clinical Oncology · doi:10.1200/jco.2004.00.4960 · Cited by 1,148 · see citing works
Breast Cancer Risk Genes — Association Analysis in More than 113,000 Women
Breast Cancer Association Consortium (2021) · New England Journal of Medicine · doi:10.1056/nejmoa1913948 · Cited by 1,146 · see citing works
Daly, M. B., Pal, T., Berry, M. P., Buys, S. S., Dickson, P., Domchek, S. M., Elkhanany, A. M., Friedman, S., Goggins, M., Hutton, M. L., et al. (2021) · Journal of the National Comprehensive Cancer Network · doi:10.6004/jnccn.2021.0001 · Cited by 1,122 · see citing works
Gelmon, K. A., Tischkowitz, M. D., MacKay, H. J., Swenerton, K. D., Robidoux, A., Tonkin, K. S., Hirte, H. W., Huntsman, D. D., Clemons, M. J., Gilks, C. B., et al. (2011) · The Lancet Oncology · doi:10.1016/s1470-2045(11)70214-5 · Cited by 1,117 · see citing works
Correction of a pathogenic gene mutation in human embryos
Ma, H., Marti-Gutierrez, N., Park, S.-W., Wu, J., Lee, Y., Suzuki, K., Koski, A., Ji, D., Hayama, T., Ahmed, R., et al. (2017) · Nature · doi:10.1038/nature23305 · Cited by 969 · see citing works
BRCA1 and BRCA2: 1994 and beyond
Narod, S. A., & Foulkes, W. D. (2004) · Nature Reviews Cancer · doi:10.1038/nrc1431 · Cited by 967 · see citing works
Self-citationCancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE
Mavaddat, N., Peock, S., Frost, D., Ellis, S., Platte, R., Fineberg, E., Evans, D. G., Izatt, L., Eeles, R. A., Adlard, J., et al. (2013) · JNCI: Journal of the National Cancer Institute · doi:10.1093/jnci/djt095 · Cited by 951 · see citing works
Self-citationRebbeck, T. R., Kauff, N. D., & Domchek, S. M. (2009) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/djn442 · Cited by 939 · see citing works
Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk
Easton, D. F., Pharoah, P. D. P., Antoniou, A. C., Tischkowitz, M. D., Tavtigian, S. V., Nathanson, K. L., Devilee, P., Meindl, A., Couch, F. J., Southey, M. C., et al. (2015) · New England Journal of Medicine · doi:10.1056/nejmsr1501341 · Cited by 922 · see citing works
Self-citationHomologous Recombination and Human Health: The Roles of BRCA1, BRCA2, and Associated Proteins
Prakash, R., Zhang, Y., Feng, W., & Jasin, M. (2015) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a016600 · Cited by 869 · see citing works
Breast-Cancer Risk in Families with Mutations in PALB2
Antoniou, A. C., Casadei, S., Heikkinen, T., Barrowdale, D., Pylkäs, K., Roberts, J., Lee, A., Subramanian, D., Leeneer, K. D., Fostira, F., et al. (2014) · New England Journal of Medicine · doi:10.1056/nejmoa1400382 · Cited by 853 · see citing works
Self-citationAn organoid platform for ovarian cancer captures intra- and interpatient heterogeneity
Kopper, O., de Witte, C. J., Lõhmussaar, K., Valle-Inclan, J. E., Hami, N., Kester, L., Balgobind, A. V., Korving, J., Proost, N., Begthel, H., et al. (2019) · Nature Medicine · doi:10.1038/s41591-019-0422-6 · Cited by 834 · see citing works
Breast Cancer Before Age 40 Years
Anders, C. K., Johnson, R. H., Litton, J. K., Phillips, M. B., & Bleyer, A. (2009) · Seminars in Oncology · doi:10.1053/j.seminoncol.2009.03.001 · Cited by 790 · see citing works
PARP Inhibitors: Clinical Relevance, Mechanisms of Action and Tumor Resistance
Rose, M., Burgess, J. T., O'Byrne, K. J., Richard, D. J., & Bolderson, E. (2020) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2020.564601 · Cited by 726 · see citing works
Hereditary Cancer Predisposition Syndromes
Garber, J. E., & Offit, K. (2005) · Journal of Clinical Oncology · doi:10.1200/jco.2005.10.042 · Cited by 696 · see citing works
Risch, H. A., McLaughlin, J. R., Cole, D. E. C., Rosen, B. P., Bradley, L., Fan, I., Tang, J., Li, S., Zhang, S., Shaw, P. A., et al. (2006) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/djj465 · Cited by 678 · see citing works
Self-citationTavtigian, S. V., Deffenbaugh, A. M., Yin, L., Judkins, T., Scholl, T., Samollow, P. B., de Silva, D., Zharkikh, A., & Thomas, A. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2005.033878 · Cited by 665 · see citing works
The distinctive biology of cancer in adolescents and young adults
Bleyer, A., Barr, R. D., Hayes‐Lattin, B., Thomas, D. M., Ellis, C. A., & Anderson, B. D. (2008) · Nature reviews. Cancer · doi:10.1038/nrc2349 · Cited by 664 · see citing works
Genetic/Familial High-Risk Assessment: Breast and Ovarian
Daly, M. B., Axilbund, J. E., Buys, S. S., Crawford, B., Farrell, C. D., Friedman, S., Garber, J. E., Goorha, S., Gruber, S. B., Hampel, H., et al. (2010) · Journal of the National Comprehensive Cancer Network · doi:10.6004/jnccn.2010.0043 · Cited by 647 · see citing works
Realizing the promise of cancer predisposition genes
Rahman, N. (2014) · Nature · doi:10.1038/nature12981 · Cited by 616 · see citing works
Mammographic breast density as an intermediate phenotype for breast cancer
Boyd, N. F., Rommens, J. M., Vogt, K., Lee, V., Hopper, J. L., Yaffe, M. J., & Paterson, A. D. (2005) · The Lancet Oncology · doi:10.1016/s1470-2045(05)70390-9 · Cited by 614 · see citing works
Self-citationFinch, A. (2006) · JAMA · doi:10.1001/jama.296.2.185 · Cited by 601 · see citing works
Yang, D., Khan, S., Sun, Y., Hess, K., Shmulevich, I., Sood, A. K., & Zhang, W. (2011) · JAMA · doi:10.1001/jama.2011.1456 · Cited by 599 · see citing works
Kauff, N. D., Domchek, S. M., Friebel, T. M., Robson, M. E., Lee, J., Garber, J. E., Isaacs, C. J., Evans, D. G., Lynch, H. T., Eeles, R. A., et al. (2008) · Journal of Clinical Oncology · doi:10.1200/jco.2007.13.9626 · Cited by 586 · see citing works
Self-citationInherited Susceptibility to Common Cancers
Foulkes, W. D. (2008) · New England Journal of Medicine · doi:10.1056/nejmra0802968 · Cited by 560 · see citing works
Risk of Pancreatic Cancer in Families With Lynch Syndrome
Kastrinos, F. (2009) · JAMA · doi:10.1001/jama.2009.1529 · Cited by 544 · see citing works
Germline mutations in RAD51D confer susceptibility to ovarian cancer
Loveday, C., Turnbull, C., Ramsay, E., Hughes, D., Ruark, E., Frankum, J. R., Bowden, G. R., Kalmyrzaev, B., Warren-Perry, M., Snape, K. M. G., et al. (2011) · Nature Genetics · doi:10.1038/ng.893 · Cited by 530 · see citing works
Self-citationPolak, P., Kim, J., Braunstein, L. Z., Karlic, R., Haradhavala, N. J., Tiao, G., Rosebrock, D., Livitz, D., Kübler, K., Mouw, K. W., et al. (2017) · Nature Genetics · doi:10.1038/ng.3934 · Cited by 531 · see citing works
The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions
Antoniou, A. C., Cunningham, A. P., Peto, J., Evans, D. G., Lalloo, F. I., Narod, S. A., Risch, H. A., Eyfjord, J. E., Hopper, J. L., Southey, M. C., et al. (2008) · British Journal of Cancer · doi:10.1038/sj.bjc.6604305 · Cited by 525 · see citing works
Self-citationCancers associated with BRCA 1 and BRCA 2 mutations other than breast and ovarian
Mersch, J. A., Jackson, M., Park, M., Nebgen, D. R., Peterson, S. K., Singletary, C. N., Arun, B., & Litton, J. K. (2014) · Cancer · doi:10.1002/cncr.29041 · Cited by 513 · see citing works
Health and Racial Disparity in Breast Cancer
Yedjou, C. G., Sims, J. N., Miele, L., Noubissi, F., Lowe, L., Fonseca, D. D., Alo, R. A., Payton, M., & Tchounwou, P. B. (2019) · Advances in Experimental Medicine and Biology · doi:10.1007/978-3-030-20301-6_3 · Cited by 509 · see citing works
The Family History — More Important Than Ever
Guttmacher, A. E., Collins, F. S., & Carmona, R. H. (2004) · New England Journal of Medicine · doi:10.1056/nejmsb042979 · Cited by 497 · see citing works
Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations
Fackenthal, J., & Olopade, O. (2007) · Nature Reviews. Cancer · doi:10.1038/nrc2054 · Cited by 502 · see citing works
Basal-like breast cancer and the BRCA1 phenotype
Turner, N. C., & Reis-Filho, J. S. (2006) · Oncogene · doi:10.1038/sj.onc.1209876 · Cited by 481 · see citing works
Prevalence of Homologous Recombination–Related Gene Mutations Across Multiple Cancer Types
Heeke, A. L., Pishvaian, M. J., Lynce, F. C., Xiu, J., Brody, J. R., Chen, W.-J., Baker, T. M., Marshall, J. L., & Isaacs, C. J. (2018) · JCO Precision Oncology · doi:10.1200/po.17.00286 · Cited by 472 · see citing works
Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA -Related Cancer
US Preventive Services Task Force, Owens, D. K., Davidson, K. W., Krist, A. H., Barry, M. J., Cabana, M. D., Caughey, A. B., Doubeni, C. A., Epling, J. W., Kubik, M., et al. (2019) · JAMA · doi:10.1001/jama.2019.10987 · Cited by 469 · see citing works
The BOADICEA model of genetic susceptibility to breast and ovarian cancer
Antoniou, A. C., Pharoah, P. D. P., Smith, P., & Easton, D. F. (2004) · British Journal of Cancer · doi:10.1038/sj.bjc.6602175 · Cited by 464 · see citing works
Self-citationProgress and Challenges in Screening for Early Detection of Ovarian Cancer
Jacobs, I. J., & Menon, U. (2004) · Molecular & Cellular Proteomics · doi:10.1074/mcp.r400006-mcp200 · Cited by 456 · see citing works
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions
Fahed, A. C., Wang, M., Homburger, J. R., Patel, A. P., Bick, A. G., Neben, C. L., Lai, C., Brockman, D., Philippakis, A., Ellinor, P. T., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-17374-3 · Cited by 444 · see citing works
The Landscape of Targeted Therapies in TNBC
Vagia, E., Mahalingam, D., & Cristofanilli, M. (2020) · Cancers · doi:10.3390/cancers12040916 · Cited by 445 · see citing works
Easton, D. F., Deffenbaugh, A. M., Pruss, D., Frye, C., Wenstrup, R. J., Allen-Brady, K., Tavtigian, S. V., Monteiro, A. N. A., Iversen, E. S., Couch, F. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/521032 · Cited by 455 · see citing works
Self-citationEisen, A. F., Lubiński, J., Klijn, J. G. M., Møller, P., Lynch, H. T., Offit, K., Weber, B., Rebbeck, T., Neuhausen, S. L., Ghadirian, P., et al. (2005) · Journal of Clinical Oncology · doi:10.1200/jco.2004.00.7138 · Cited by 442 · see citing works
Self-citationGermline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer
Ramus, S. J., Song, H., Dicks, E., Tyrer, J. P., Rosenthal, A. N., Intermaggio, M. P., Fraser, L. S. M., Gentry‐Maharaj, A., Hayward, J. D., Philpott, S., et al. (2015) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/djv214 · Cited by 437 · see citing works
Self-citationYang, X., Leslie, G., Doroszuk, A., Schneider, S. S., Allen, J., Decker, B. J., Dunning, A. M., Redman, J., Scarth, J. A., Plaskocinska, I., et al. (2019) · Journal of Clinical Oncology · doi:10.1200/jco.19.01907 · Cited by 435 · see citing works
Self-citationLemacon, D. S., Jackson, J., Quinet, A., Brickner, J. R., Li, S., Yazinski, S. A., You, Z., Ira, G., Zou, L., Mosammaparast, N., et al. (2017) · Nature Communications · doi:10.1038/s41467-017-01180-5 · Cited by 410 · see citing works
Cancer risks in BRCA2 families: estimates for sites other than breast and ovary
van Asperen, C. J., Brohet, R. M., Meijers-Heijboer, E. J., Hoogerbrugge, N., Verhoef, S., Vasen, H. F. A., Ausems, M. G. E. M., Menko, F. H., Gómez-García, E. B., Klijn, J. G. M., et al. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2004.028829 · Cited by 419 · see citing works
Moyer, V. A., & on behalf of the U.S. Preventive Services Task Force* (2013) · Annals of Internal Medicine · doi:10.7326/m13-2747 · Cited by 410 · see citing works
U.S. Preventive Services Task Force* (2005) · Annals of Internal Medicine · doi:10.7326/0003-4819-143-5-200509060-00011 · Cited by 405 · see citing works
Buys, S. S., Sandbach, J. F., Gammon, A., Patel, G. S., Kidd, J., Brown, K. L., Sharma, L., Saam, J. R., Lancaster, J. M., & Daly, M. B. (2017) · Cancer · doi:10.1002/cncr.30498 · Cited by 400 · see citing works
Bodai, B. I., & Tuso, P. (2015) · The Permanente Journal · doi:10.7812/tpp/14-241 · Cited by 397 · see citing works
Giordano, S. H. (2018) · New England Journal of Medicine · doi:10.1056/nejmra1707939 · Cited by 392 · see citing works
Goldgar, D. E., Easton, D. F., Deffenbaugh, A. M., Monteiro, Á. N. A., Tavtigian, S. V., & Couch, F. J. (2004) · The American Journal of Human Genetics · doi:10.1086/424388 · Cited by 391 · see citing works
Self-citationFanconi anaemia and cancer: an intricate relationship
Nalepa, G., & Clapp, D. W. (2018) · Nature reviews. Cancer · doi:10.1038/nrc.2017.116 · Cited by 388 · see citing works
Kamińska, M., Ciszewski, T., Łopacka-Szatan, K., Miotła, P., & Starosławska, E. (2015) · Menopause Review/Przegląd Menopauzalny · doi:10.5114/pm.2015.54346 · Cited by 388 · see citing works
Highly penetrant hereditary cancer syndromes
Nagy, R. S., Sweet, K. M., & Eng, C. (2004) · Oncogene · doi:10.1038/sj.onc.1207714 · Cited by 379 · see citing works
Couch, F. J., Wang, X., McGuffog, L., Lee, A., Olswold, C., Kuchenbaecker, K. B., Soucy, P., Fredericksen, Z., Barrowdale, D., Dennis, J., et al. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003212 · Cited by 375 · see citing works
Self-citationGenetic susceptibility to breast cancer
Mavaddat, N., Antoniou, A. C., Easton, D. F., & García‐Closas, M. (2010) · Molecular Oncology · doi:10.1016/j.molonc.2010.04.011 · Cited by 376 · see citing works
Self-citationCurrent Status of Breast MR Imaging Part 2. Clinical Applications
Kuhl, C. K. (2007) · Radiology · doi:10.1148/radiol.2443051661 · Cited by 375 · see citing works
Finch, A., Shaw, P. H., Rosen, B. P., Murphy, J., Narod, S. A., & Colgan, T. J. (2005) · Gynecologic Oncology · doi:10.1016/j.ygyno.2005.06.065 · Cited by 375 · see citing works
Self-citationMalone, K. E., Daling, J. R., Doody, D. R., Hsu, L., Bernstein, L., Coates, R. J., Marchbanks, P. A., Simon, M. S., McDonald, J. A., Norman, S. A., et al. (2006) · Cancer Research · doi:10.1158/0008-5472.can-06-0503 · Cited by 373 · see citing works
Hereditary breast and ovarian cancer: new genes in confined pathways
Nielsen, F. C., van Overeem Hansen, T., & Sørensen, C. S. (2016) · Nature Reviews Cancer · doi:10.1038/nrc.2016.72 · Cited by 367 · see citing works
Epidemiology of Breast Cancer in Women
Coughlin, S. S. (2019) · Advances in experimental medicine and biology · doi:10.1007/978-3-030-20301-6_2 · Cited by 363 · see citing works
Bisphenol A (BPA) and cell signaling pathways
Murata, M., & Kang, J. (2017) · Biotechnology Advances · doi:10.1016/j.biotechadv.2017.12.002 · Cited by 366 · see citing works
Calculation of risk of colorectal and endometrial cancer among patients with Lynch syndrome
Stoffel, E., Mukherjee, B., Raymond, V. M., Tayob, N., Kastrinos, F., Sparr, J., Wang, F., Bandipalliam, P., Syngal, S., & Gruber, S. B. (2009) · Gastroenterology · doi:10.1053/j.gastro.2009.07.039 · Cited by 360 · see citing works
Hereditary Breast Cancer: The Era of New Susceptibility Genes
Apostolou, P., & Fostira, F. (2013) · BioMed Research International · doi:10.1155/2013/747318 · Cited by 355 · see citing works
PARP Inhibitors for BRCA1/2 mutation-associated and BRCA-like malignancies
Lee, J.-M., Ledermann, J. A., & Kohn, E. C. (2013) · Annals of Oncology · doi:10.1093/annonc/mdt384 · Cited by 352 · see citing works
Santen, R. J., & Mansel, R. E. (2005) · New England Journal of Medicine · doi:10.1056/nejmra035692 · Cited by 352 · see citing works
Manahan, E. R., Kuerer, H. M., Sebastian, M., Hughes, K. S., Boughey, J. C., Euhus, D., Boolbol, S. K., & Taylor, W. A. (2019) · Annals of Surgical Oncology · doi:10.1245/s10434-019-07549-8 · Cited by 347 · see citing works
Nelson, H. D., Huffman, L. H., Fu, R. F., & Harris, E. L. (2005) · Annals of Internal Medicine · doi:10.7326/0003-4819-143-5-200509060-00012 · Cited by 345 · see citing works
Metcalfe, K. A., Birenbaum‐Carmeli, D., Lubiński, J., Gronwald, J., Lynch, H. T., Møller, P., Ghadirian, P., Foulkes, W. D., Klijn, J. G. M., Friedman, E., et al. (2008) · International Journal of Cancer · doi:10.1002/ijc.23340 · Cited by 342 · see citing works
Self-citationPopulation-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2
Gabai-Kapara, E., Lahad, A., Kaufman, B., Friedman, E., Segev, S., Renbaum, P., Beeri, R., Gal, M., Grinshpun‐Cohen, J., Djemal, K., et al. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1415979111 · Cited by 342 · see citing works
Hereditary breast and ovarian cancer due to mutations in BRCA1 and BRCA2
Petrucelli, N., Daly, M. B., & Feldman, G. L. (2010) · Genetics in Medicine · doi:10.1097/gim.0b013e3181d38f2f · Cited by 340 · see citing works
EMBRACE, Antoniou, A. C., Collaborators, G. S., HEBON, kConFab, SWE-BRCA, SQUAD, M., GENICA, Wang, X., Fredericksen, Z. S., et al. (2010) · Nature Genetics · doi:10.1038/ng.669 · Cited by 333 · see citing works
Self-citationPathogenesis, prevention, diagnosis and treatment of breast cancer
Shah, R. A. (2014) · World Journal of Clinical Oncology · doi:10.5306/wjco.v5.i3.283 · Cited by 330 · see citing works
Prevalence of Pathogenic BRCA1 Mutation Carriers in 5 US Racial/Ethnic Groups
John, E. M., Miron, A., Gong, G. D., Phipps, A. I., Felberg, A., Li, F. P., West, D. W., & Whittemore, A. S. (2007) · JAMA · doi:10.1001/jama.298.24.2869 · Cited by 329 · see citing works
Early Detection of Cancer: Past, Present, and Future
Schiffman, J. D., Fisher, P. G., & Gibbs, P. (2015) · American Society of Clinical Oncology Educational Book · doi:10.14694/edbook_am.2015.35.57 · Cited by 352 · see citing works
Epidemiology of Ovarian Cancer
Permuth‐Wey, J., & Sellers, T. A. (2008) · Methods in molecular biology · doi:10.1007/978-1-60327-492-0_20 · Cited by 327 · see citing works
Cancer risks among BRCA1 and BRCA2 mutation carriers
Levy‐Lahad, E., & Friedman, E. (2007) · British Journal of Cancer · doi:10.1038/sj.bjc.6603535 · Cited by 327 · see citing works
Domchek, S. M., Friebel, T. M., Neuhausen, S. L., Wagner, T. M., Evans, D. G., Isaacs, C. J., Garber, J. E., Daly, M. B., Eeles, R. A., Matloff, E. T., et al. (2006) · The Lancet Oncology · doi:10.1016/s1470-2045(06)70585-x · Cited by 327 · see citing works
Self-citationHereditary breast cancer: new genetic developments, new therapeutic avenues
Campeau, P. M., Foulkes, W. D., & Tischkowitz, M. D. (2008) · Human Genetics · doi:10.1007/s00439-008-0529-1 · Cited by 320 · see citing works
Nelson, H. D., Pappas, M., Zakher, B., Mitchell, J. P., Okinaka‐Hu, L., & Fu, R. F. (2013) · Annals of Internal Medicine · doi:10.7326/m13-1684 · Cited by 319 · see citing works
Characterization ofBRCA1andBRCA2Mutations in a Large United States Sample
Chen, S., Iversen, E. S., Friebel, T. M., Finkelstein, D. M., Weber, B., Eisen, A. F., Peterson, L. E., Schildkraut, J. M., Isaacs, C. J., Peshkin, B. N., et al. (2006) · Journal of Clinical Oncology · doi:10.1200/jco.2005.03.6772 · Cited by 318 · see citing works
Contralateral Breast Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers
Graeser, M. K., Engel, C., Rhiem, K., Gadzicki, D., Bick, U., Kast, K., Froster, U. G., Schlehe, B., Bechtold, A., Arnold, N., et al. (2009) · Journal of Clinical Oncology · doi:10.1200/jco.2008.19.9430 · Cited by 314 · see citing works
Endogenous Hormones and Ovarian Cancer: Epidemiology and Current Hypotheses
Lukanova, A., & Kaaks, R. (2005) · Cancer Epidemiology Biomarkers & Prevention · doi:10.1158/1055-9965.98.14.1 · Cited by 314 · see citing works
Counselling framework for moderate-penetrance cancer-susceptibility mutations
Tung, N., Domchek, S. M., Stadler, Z. K., Nathanson, K. L., Couch, F. J., Garber, J. E., Offit, K., & Robson, M. E. (2016) · Nature Reviews Clinical Oncology · doi:10.1038/nrclinonc.2016.90 · Cited by 313 · see citing works
- Authors
- Antoniou, A., Pharoah, P. D. P., Narod, S., Risch, H. A., Eyfjord, J. E., Hopper, J. L., Loman, N., Olsson, H., Johannsson, O., Borg, Å., Pasini, B., Radice, P., Manoukian, S., Eccles, D. M., Tang, N., Olah, E., Anton-Culver, H., Warner, E., Lubinski, J., Gronwald, J., Gorski, B., Tulinius, H., Thorlacius, S., Eerola, H., Nevanlinna, H., Syrjäkoski, K., Kallioniemi, O.-P., Thompson, D., Evans, C., Peto, J., Lalloo, F., Evans, D. G., & Easton, D. F.
- Affiliations
- University of Cambridge (GB)
- University of Toronto (CA)
- Yale University (US)
- The University of Melbourne (AU)
- Lund University (SE)
- National Cancer Institute (US)
- IFOM (IT)
- Princess Anne Hospital (GB)
- Chinese University of Hong Kong (HK)
- Pomeranian Medical University (PL)
- University of Iceland (IS)
- Helsinki University Hospital (FI)
- Tampere University (FI)
- Cancer Research UK (GB)
- Institute of Cancer Research (GB)
- St Mary's Hospital (GB)
- Corresponding author
- Pharoah, P.D.P.
- ORCID
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2003-05
- Volume
- 72
- Issue
- 5
- Pages
- 1117-1130
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC1180265
- OpenAlex
- W2150111967
- Cited by
- 3,680
- References
- 57
- Citations by year
- 2026: 63 · 2025: 100 · 2024: 129 · 2023: 157 · 2022: 145 · 2021: 166 · 2020: 179 · 2019: 172 · 2018: 184 · 2017: 235 · 2016: 214 · 2015: 202 · 2014: 178 · 2013: 188 · 2012: 198
- FWCI
- 11.32
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Research Explorer (The University of Manchester) (publishedVersion)
- ePrints Soton (University of Southampton) (submittedVersion)
- Lund University Publications (Lund University) (submittedVersion)
- DigitalGeorgetown (Georgetown University Library) (submittedVersion)
- TSpace (University of Toronto) (submittedVersion)
- Funders
- National Institutes of Health (5r01ca081203-04)
- National Cancer Institute (1R01 CA81203, R01CA063682)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Health Sciences › Medicine › Epidemiology › Multiple and Secondary Primary Cancers
- Health Sciences › Medicine › Oncology › Cancer Risks and Factors
- Keywords
- BRCA1, BRCA2, germline mutations, breast cancer, epithelial ovarian cancer, cumulative cancer risk, segregation analysis, pedigree data, birth cohort effects, mutation position
- MeSH terms
- Adult, Aged, Breast Neoplasms, Family, Female, Genetic Testing, Heterozygote, Humans, Male, Middle Aged, Mutation, Ovarian Neoplasms, Pedigree, Risk, Global Health, Cohort Studies, Incidence, Age Distribution, Risk Assessment, Genes, BRCA1, Genes, BRCA2
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