Cited by 202BRCA gene mutations in cancerBreast Lesions and CarcinomasMultiple and Secondary Primary Cancers

The DOI matches its Crossref record; 6 of the 6 references it cites were found in a registry or an index.

Prediction of pathogenic mutations in patients with early-onset breast cancer by family history

Lalloo, Fiona, Varley, Jennifer, Ellis, David, Moran, Anthony, O'Dair, Lindsay, Pharoah, Paul, Evans, D Gareth R·2003·The Lancet

DOI 10.1016/s0140-6736(03)12856-5

Open this paper in CoChat — free account

Abstract

We aimed to assess frequency and penetrance of BRCA1, BRCA2,and TP53 mutations in women diagnosed with breast cancer aged 30 years or younger, and then correlate this frequency with family history. 17 of 36 familial cases had a BRCA1, BRCA2, or TP53 mutation, compared with three of 63 non-familial cases. The calculated population frequency of TP53 mutations was one in 5000, substantially greater than previous estimates. This finding underlines the importance of accurate elucidation of a family history from young women diagnosed with breast cancer. Establishment of family history could help with development of patient-specific management and tumour surveillance protocols.

Integrity signals

Registry

Crossref · 10.1016/s0140-6736(03)12856-5

Cites

6 of 6 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium.
Ford, 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
Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium.
Easton, D. F., Ford, D., & Bishop, D. T. (1995) · PubMed Central · Cited by 1,602
Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases
Anglian Breast Cancer Study Group (2000) · British Journal of Cancer · doi:10.1054/bjoc.2000.1407 · Cited by 602
Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families
Birch, Hartley, Tricker, Prosser, P., Condie, Kelsey, Harris, Jones, Binchy, Crowther, et al. (1994) · Cancer Research · Cited by 475
Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families.
Birch, J. M., Hartley, A. L., Tricker, K. J., Prosser, J., Condie, A., Kelsey, A. M., Harris, M., Jones, P. H. M., Binchy, A., & Crowther, D. (1994) · PubMed · Cited by 421
Breast 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

Show all 6 references

Sorted by citations

Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology
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 1,143
Hereditary Cancer Predisposition Syndromes
Garber, J. E., & Offit, K. (2005) · Journal of Clinical Oncology · doi:10.1200/jco.2005.10.042 · Cited by 721
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 646
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 524
Self-citation
Li-Fraumeni Syndrome
Malkin, D. M. (2011) · Genes & Cancer · doi:10.1177/1947601911413466 · Cited by 529
Highly penetrant hereditary cancer syndromes
Nagy, R. S., Sweet, K. M., & Eng, C. (2004) · Oncogene · doi:10.1038/sj.onc.1207714 · Cited by 399
Hereditary Breast Cancer: The Era of New Susceptibility Genes
Apostolou, P., & Fostira, F. (2013) · BioMed Research International · doi:10.1155/2013/747318 · Cited by 379
TP53 germline mutation testing in 180 families suspected of Li–Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes
Ruijs, M., Verhoef, S., Rookus, M. A., Pruntel, R., van der Hout, A. H., Hogervorst, F. B. L., Kluijt, I., Sijmons, R. H., Aalfs, C. M., Wagner, A., et al. (2010) · Journal of Medical Genetics · doi:10.1136/jmg.2009.073429 · Cited by 304
Models of genetic susceptibility to breast cancer
Antoniou, A. C., & Easton, D. F. (2006) · Oncogene · doi:10.1038/sj.onc.1209879 · Cited by 310
Malignant transformation and new primary tumours after therapeutic radiation for benign disease: substantial risks in certain tumour prone syndromes: Table 1
Evans, D. G., Birch, J. M., Ramsden, R. T., Sharif, S., & Baser, M. E. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2005.036319 · Cited by 299
Self-citation
A germline variant in the TP53 polyadenylation signal confers cancer susceptibility
Swedish Low-risk Colorectal Cancer Study Group, Stacey, S., Sulem, P., Jónasdóttir, Á., Másson, G., Guðmundsson, J., Gudbjartsson, D. F., Magnússon, Ó. Þ., Gudjonsson, S. A., Sigurgeirsson, B., et al. (2011) · Nature Genetics · doi:10.1038/ng.926 · Cited by 296
Cancer Risk Prediction Models: A Workshop on Development, Evaluation, and Application
Freedman, A. N., Seminara, D., Gail, M. H., Hartge, P. A., Colditz, G. A., Ballard-Barbash, R. R., & Pfeiffer, R. M. (2005) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/dji128 · Cited by 267
A new scoring system for the chances of identifying a BRCA1/2 mutation outperforms existing models including BRCAPRO
Evans, D. G., Eccles, D., Rahman, N., Young, K., Bulman, M., Amir, E., Shenton, A., Howell, A., & Lalloo, F. I. (2004) · Journal of Medical Genetics · doi:10.1136/jmg.2003.017996 · Cited by 264
Self-citation
The Genetic Epidemiology of Breast Cancer Genes
Thompson, D. J., & Easton, D. F. (2004) · Journal of Mammary Gland Biology and Neoplasia · doi:10.1023/b:jomg.0000048770.90334.3b · Cited by 272
RAD51 135G→C Modifies Breast Cancer Risk among BRCA2 Mutation Carriers: Results from a Combined Analysis of 19 Studies
Antoniou, A. C., Sinilnikova, O. M., Simard, J., Léoné, M., Dumont, M., Neuhausen, S. L., Struewing, J. P., Stoppa‐Lyonnet, D., Barjhoux, L., Hughes, D. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/522611 · Cited by 241
Sarcomas in TP53 germline mutation carriers
Ognjanovic, S., Olivier, M., Bergemann, T. L., & Hainaut, P. L. (2011) · Cancer · doi:10.1002/cncr.26390 · Cited by 236
Beyond BRCA: New hereditary breast cancer susceptibility genes
Economopoulou, P., Dimitriadis, G., & Psyrri, A. K. (2014) · Cancer Treatment Reviews · doi:10.1016/j.ctrv.2014.10.008 · Cited by 239
Familial Breast Cancer
Lalloo, F. I., & Evans, D. G. (2012) · Clinical Genetics · doi:10.1111/j.1399-0004.2012.01859.x · Cited by 220
Self-citation
Breast cancer risk-assessment models
Evans, D. G., & Howell, A. (2007) · Breast Cancer Research · doi:10.1186/bcr1750 · Cited by 191
Self-citation
BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives
Lalloo, F. I., Varley, J. M., Moran, A., Ellis, D., O’Dair, L., Pharoah, P. D. P., Antoniou, A. C., Hartley, R., Shenton, A., Seal, S., et al. (2006) · European Journal of Cancer · doi:10.1016/j.ejca.2005.11.032 · Cited by 175
Self-citation
High frequency of de novo mutations in Li–Fraumeni syndrome
Gonzalez, K. D., Buzin, C. H., Noltner, K., Gu, D., Li, W., Malkin, D. M., & Sommer, S. S. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2008.058958 · Cited by 170
Inherited mutations in cancer susceptibility genes are common among survivors of breast cancer who develop therapy‐related leukemia
Churpek, J. E., Marquez, R., Neistadt, B., Claussen, K., Lee, M. K., Churpek, M. M., Huo, D., Weiner, H., Banerjee, M., Godley, L. A., et al. (2015) · Cancer · doi:10.1002/cncr.29615 · Cited by 170
Clinical implications of germline mutations in breast cancer: TP53
Schon, K. R., & Tischkowitz, M. D. (2017) · Breast Cancer Research and Treatment · doi:10.1007/s10549-017-4531-y · Cited by 156
Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect
Garritano, S., Gemignani, F., Palmero, E. I., Olivier, M., Martel-Planche, G., Le Calvez-Kelm, F., Brugiéres, L., Vargas, F. R., Brentani, R. R., Ashton-Prolla, P., et al. (2010) · Human Mutation · doi:10.1002/humu.21151 · Cited by 153
No efficacy of annual gynaecological screening in BRCA1/2 mutation carriers; an observational follow-up study
Hermsen, B. B. J., Olivier, R. I., Verheijen, R. H. M., van Beurden, M., de Hullu, J. A., Massuger, L. F. A. G., Burger, C. W., Brekelmans, C. T. M., Mourits, M. J. E., de Bock, G. H., et al. (2007) · British Journal of Cancer · doi:10.1038/sj.bjc.6603725 · Cited by 153
Improvement in risk prediction, early detection and prevention of breast cancer in the NHS Breast Screening Programme and family history clinics: a dual cohort study
Evans, D. G., Astley, S., Stavrinos, P., Harkness, E. F., Donnelly, L. S., Dawe, S., Jacob, I., Harvie, M., Cuzick, J. M., Brentnall, A. R., et al. (2016) · Programme Grants for Applied Research · doi:10.3310/pgfar04110 · Cited by 153
Self-citation
Tumor protein 53 mutations and inherited cancer: beyond Li-Fraumeni syndrome
Palmero, E. I., Achatz, M. I., Ashton‐Prolla, P., Olivier, M., & Hainaut, P. L. (2009) · Current Opinion in Oncology · doi:10.1097/cco.0b013e328333bf00 · Cited by 105
Genetic susceptibility to breast cancer
Bradbury, A. R., & Olopade, O. I. (2007) · Reviews in Endocrine and Metabolic Disorders · doi:10.1007/s11154-007-9038-0 · Cited by 107
Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis
de Andrade, K. C., Frone, M. N., Wegman-Ostrosky, T., Khincha, P. P., Kim, J., Amadou, A., Santiago, K. M., Fortes, F. P., Lemonnier, N., Mirabello, L. J., et al. (2018) · Human Mutation · doi:10.1002/humu.23673 · Cited by 102
Addition of pathology and biomarker information significantly improves the performance of the Manchester scoring system for BRCA1 and BRCA2 testing
Evans, D. G., Lalloo, F. I., Cramer, A., Jones, E. A., Knox, F., Amir, E., & Howell, A. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2009.067850 · Cited by 98
Self-citation
BRCA1 and BRCA2 mutation predictions using the BOADICEA and BRCAPRO models and penetrance estimation in high-risk French-Canadian families
Antoniou, A., Durocher, F., Smith, P. L., Simard, J., & Easton, D. (2005) · Breast Cancer Research · doi:10.1186/bcr1365 · Cited by 93
The Validation and Clinical Implementation of BRCAplus: A Comprehensive High-Risk Breast Cancer Diagnostic Assay
Chong, H. K., Wang, T., Lu, H., Seidler, S., Lu, H. Y., Keiles, S. B., Chao, E., Stuenkel, A. J., Li, X., & Elliott, A. M. (2014) · PLoS ONE · doi:10.1371/journal.pone.0097408 · Cited by 86
Routine TP53 testing for breast cancer under age 30: ready for prime time?
McCuaig, J. M., Armel, S. R., Novokmet, A., Ginsburg, O., Demsky, R., Narod, S. A., & Malkin, D. M. (2012) · Familial Cancer · doi:10.1007/s10689-012-9557-z · Cited by 84
A DGGE system for comprehensive mutation screening ofBRCA1andBRCA2: application in a Dutch cancer clinic setting
van der Hout, A. H., van den Ouweland, A. M. W., van der Luijt, R. B., Gille, H. J. P., Bodmer, D., Brüggenwirth, H. T., Mulder, I. M., van der Vlies, P., Elfferich, P., Huisman, M. T., et al. (2006) · Human Mutation · doi:10.1002/humu.20340 · Cited by 83
Highly prevalent TP53 mutation predisposing to many cancers in the Brazilian population: a case for newborn screening?
Achatz, M. I., Hainaut, P. L., & Ashton‐Prolla, P. (2009) · The Lancet Oncology · doi:10.1016/s1470-2045(09)70089-0 · Cited by 76
An update on the central nervous system manifestations of Li–Fraumeni syndrome
Orr, B. A., Clay, M. R., Pinto, E. M., & Kesserwan, C. A. (2019) · Acta Neuropathologica · doi:10.1007/s00401-019-02055-3 · Cited by 80
Association of the highly prevalent TP53 R337H mutation with pediatric choroid plexus carcinoma and osteosarcoma in Southeast Brazil
Seidinger, A. L., Mastellaro, M. J., Fortes, F. P., Assumpção, J. G., Cardinalli, I. A., Ganazza, M. A., Ribeiro, R. C., Brandalise, S. R., Aguiar, S. D. S., & Yunes, J. A. (2010) · Cancer · doi:10.1002/cncr.25826 · Cited by 72
High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area
Pohlreich, P., Zikán, M., Stribrna, J., Kleibl, Z., Janatová, M., Kotlas, J., Židovská, J., Novotný, J., Petruželka, L., Szabo, C., et al. (2005) · Breast Cancer Research · doi:10.1186/bcr1282 · Cited by 75
Medical guidelines for Li–Fraumeni syndrome 2019, version 1.1
Kumamoto, T., Yamazaki, F., Nakano, Y., Tamura, C., Tashiro, S., Hattori, H., Nakagawara, A., & Tsunematsu, Y. (2021) · International Journal of Clinical Oncology · doi:10.1007/s10147-021-02011-w · Cited by 71
Baseline results from the UK SIGNIFY study: a whole-body MRI screening study in TP53 mutation carriers and matched controls
Saya, S., Killick, E., Thomas, S. A., Taylor, N., Bancroft, E. K., Rothwell, J., Benafif, S., Dias, A., Mikropoulos, C., Pope, J., et al. (2017) · Familial Cancer · doi:10.1007/s10689-017-9965-1 · Cited by 70
Self-citation
Genetic Mapping of a Third Li-Fraumeni Syndrome Predisposition Locus to Human Chromosome 1q23
Bachinski, L. L., Olufemi, S.-E., Zhou, X., Wu, C., Yip, L., Shete, S. S., Lozano, G., Amos, C. I., Strong, L. C., & Krahe, R. (2005) · Cancer Research · doi:10.1158/0008-5472.427.65.2 · Cited by 69
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes
Whitworth, J., Smith, P., Martín, J., West, H. D., Luchetti, A., Rodger, F., Clark, G. R., Carss, K., Stephens, J. C., Stirrups, K. E., et al. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.04.013 · Cited by 68
Self-citation
Incidence of malignant disease by morphological type, in young persons aged 12–24 years in England, 1979–1997
Birch, J. M., Alston, R. D., Quinn, M. J., & Kelsey, A. M. (2003) · European Journal of Cancer · doi:10.1016/j.ejca.2003.08.006 · Cited by 65
Higher-than-expected population prevalence of potentially pathogenic germlineTP53variants in individuals unselected for cancer history
de Andrade, K. C., Mirabello, L. J., Stewart, D. R., Karlins, E., Koster, R., Wang, M., Gapstur, S. M., Gaudet, M. M., Freedman, N. D., Landi, M. T., et al. (2017) · Human Mutation · doi:10.1002/humu.23320 · Cited by 63
Genetic counselling and testing for inherited gene mutations in newly diagnosed patients with breast cancer: a review of the existing literature and a proposed research agenda
Meiser, B., Tucker, K., Friedlander, M. L., Barlow-Stewart, K. K., Lobb, E. A., Saunders, C. M., & Mitchell, G. (2008) · Breast Cancer Research · doi:10.1186/bcr2194 · Cited by 58
Cancer Predisposition Syndromes and Medulloblastoma in the Molecular Era
Carta, R., Baldo, G. D., Miele, E., Pò, A., Besharat, Z. M., Nazio, F., Colafati, G. S., Piccirilli, E., Agolini, E., Rinelli, M., et al. (2020) · Frontiers in Oncology · doi:10.3389/fonc.2020.566822 · Cited by 60
Fanconi anaemia, BRCA2 mutations and childhood cancer: a developmental perspective from clinical and epidemiological observations with implications for genetic counselling
Meyer, S., Tischkowitz, M. D., Chandler, K., Gillespie, A. M., Birch, J. M., & Evans, D. G. (2013) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2013-101642 · Cited by 55
Self-citation
Long-term outcomes of breast cancer in women aged 30 years or younger, based on family history, pathology and BRCA1/BRCA2/TP53 status
Evans, D. G. R., Moran, A., Hartley, R., Dawson, J., Bulman, B., Knox, F., Howell, A., & Lalloo, F. (2010) · British Journal of Cancer · doi:10.1038/sj.bjc.6605606 · Cited by 52
Self-citation
Estrogen- and stress-induced DNA damage in breast cancer and chemoprevention with dietary flavonoid
Yasuda, M. T., Sakakibara, H., & Shimoi, K. (2017) · Genes and Environment · doi:10.1186/s41021-016-0071-7 · Cited by 54
Genetic Syndromes Associated with Central Nervous System Tumors
Vijapura, C. A., Aldin, E. S., Capizzano, A. A., Policeni, B. A., Satō, Y., & Moritani, T. (2016) · Radiographics · doi:10.1148/rg.2017160057 · Cited by 50
Update on Cancer Screening Recommendations for Individuals with Li–Fraumeni Syndrome
Achatz, M. I., Villani, A., Bertuch, A. A., Bougeard, G., Chang, V. Y., Doria, A. S., Gallinger, B., Godley, L. A., Greer, M. C., Kamihara, J., et al. (2025) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-24-3301 · Cited by 49
Contribution of BRCA1 and BRCA2 germ‐line mutations to the incidence of breast cancer in young women: Results from a prospective population‐based study in France
Bonadona, V., Sinilnikova, O. M., Chopin, S., Antoniou, A. C., Mignotte, H., Mathevet, P., Bremond, A. G., Martin, A., Bobin, J.-Y., Romestaing, P., et al. (2005) · Genes Chromosomes and Cancer · doi:10.1002/gcc.20199 · Cited by 49
Germline mutations of TP53 and BRCA2 genes in breast cancer/sarcoma families
Manoukian, S., Peissel, B., Pensotti, V., Barile, M., Cortesi, L., Stacchiotti, S., Terenziani, M., Barbera, F., Pasquini, G., Frigerio, S., et al. (2007) · European Journal of Cancer · doi:10.1016/j.ejca.2006.09.024 · Cited by 48
Hereditary myeloid malignancies
Rafei, H., & Dinardo, C. D. (2019) · Best Practice & Research Clinical Haematology · doi:10.1016/j.beha.2019.05.001 · Cited by 49
BRCA Mutation Frequency and Penetrance: New Data, Old Debate
Offit, K. (2006) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/djj500 · Cited by 48
Germline TP53 pathogenic variants and breast cancer: A narrative review
Blondeaux, E., Arecco, L., Punie, K., Graffeo, R., Toss, A., Angelis, C. D., Trevisan, L., Buzzatti, G., Linn, S. C., Dubsky, P. C., et al. (2023) · Cancer Treatment Reviews · doi:10.1016/j.ctrv.2023.102522 · Cited by 55
Prevalence of germline TP53 mutations in HER2+ breast cancer patients
Rath, M., Masciari, S., Gelman, R. S., Miron, A., Miron, P. L., Foley, K. M., Richardson, A. L., Krop, I. E., Verselis, S. J., Dillon, D. A. R., et al. (2013) · Breast Cancer Research and Treatment · doi:10.1007/s10549-012-2375-z · Cited by 47
Recent developments in brain tumor predisposing syndromes
Johansson, G. K., Andersson, U., & Melin, B. S. (2015) · Acta Oncologica · doi:10.3109/0284186x.2015.1107190 · Cited by 46
Pediatric High Grade Gliomas in the Context of Cancer Predisposition Syndromes
Michaeli, O., & Tabori, U. Y. (2018) · Journal of Korean Neurosurgical Society · doi:10.3340/jkns.2018.0031 · Cited by 46
Recurrent mutations of BRCA1, BRCA2 and PALB2 in the population of breast and ovarian cancer patients in Southern Poland
Wójcik, P., Jasiówka, M., Strycharz, E., Sobol, M., Hodorowicz-Zaniewska, D. M., Skotnicki, P., Byrski, T., Blecharz, P., Marczyk, E., Cedrych, I., et al. (2016) · Hereditary Cancer in Clinical Practice · doi:10.1186/s13053-016-0046-5 · Cited by 44
Prevalence and impact of founder mutations in hereditary breast cancer in Latin America
Ashton‐Prolla, P., & Vargas, F. R. (2014) · Genetics and Molecular Biology · doi:10.1590/s1415-47572014000200009 · Cited by 42
Presymptomatic breast cancer in Egypt: role of BRCA1 and BRCA2 tumor suppressor genes mutations detection
Ibrahim, S. S., Hafez, E. S. E., & Mm, H. (2010) · Journal of Experimental & Clinical Cancer Research · doi:10.1186/1756-9966-29-82 · Cited by 42
Loss of Heterozygosity at the BRCA2 Locus Detected by Multiplex Ligation-Dependent Probe Amplification is Common in Prostate Cancers from Men with a Germline BRCA2 Mutation
Willems, A. J., Dawson, S., Samaratunga, H., Luca, A. D., Antill, Y. C., Hopper, J. L., Thorne, H., & and kConFab Investigators (2008) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-07-5237 · Cited by 41
Mutational analysis of the breast cancer susceptibility gene BRIP1 /BACH1/FANCJ in high-risk non-BRCA1/BRCA2 breast cancer families
BRCAs, I., Guénard, F., Labrie, Y., Ouellette, G., Joly Beauparlant, C., Simard, J., & Durocher, F. (2008) · Journal of Human Genetics · doi:10.1007/s10038-008-0285-z · Cited by 38
Clinical Management of Hereditary Breast Cancer Syndromes
Clark, A. S., & Domchek, S. M. (2011) · Journal of Mammary Gland Biology and Neoplasia · doi:10.1007/s10911-011-9200-x · Cited by 38
Germline TP53 Testing in Breast Cancers: Why, When and How?
Evans, D. G., Woodward, E. R., Bajalica‐Lagercrantz, S., Oliveíra, C., & Frébourg, T. (2020) · Cancers · doi:10.3390/cancers12123762 · Cited by 39
Self-citation
Getting to the Point: What Women Newly Diagnosed With Breast Cancer Want to Know About Treatment-Focused Genetic Testing
Meiser, B., Gleeson, M., Watts, K., Peate, M., Zilliacus, E. M., Barlow-Stewart, K. K., Saunders, C. M., Mitchell, G., & Kirk, J. (2012) · Oncology nursing forum · doi:10.1188/12.onf.e101-e111 · Cited by 36
Mutational analysis ofBRCA1andBRCA2in Mediterranean Spanish women with early-onset breast cancer: Identification of three novel pathogenic mutations
Martínez‐Ferrandis, J. I., Vega, A. I., Chirivella, I., Marín-García, P., Insa, A., Lluch, A. M., Carracedo, Á., Chaves, F. J., García-Conde, J., Cervantes, A. M. R., et al. (2003) · Human Mutation · doi:10.1002/humu.9188 · Cited by 33
Penetrance of the TP53 R337H Mutation and Pediatric Adrenocortical Carcinoma Incidence Associated with Environmental Influences in a 12-Year Observational Cohort in Southern Brazil
Costa, T. E. J. B., Gerber, V. K. Q., Ibañez, H. C., Melanda, V. S., Parise, I. Z. S., Watanabe, F. M., Pianovski, M. A. D., Fiori, C. M. C. M., Fabro, A. L. M. R., Silva, D. B., et al. (2019) · Cancers · doi:10.3390/cancers11111804 · Cited by 32
Risk of Contralateral Breast Cancer in Women with and without Pathogenic Variants in BRCA1, BRCA2, and TP53 Genes in Women with Very Early-Onset (<36 Years) Breast Cancer
Hyder, Z., Harkness, E. F., Woodward, E. R., Bowers, N. L., Pereira, M., Wallace, A. J., Howell, S. J., Howell, A., Lalloo, F. I., Newman, W. G., et al. (2020) · Cancers · doi:10.3390/cancers12020378 · Cited by 30
Self-citation
Are we being overly cautious? A qualitative inquiry into the experiences and perceptions of treatment-focused germline BRCA genetic testing amongst women recently diagnosed with breast cancer
Zilliacus, E. M., Meiser, B., Gleeson, M., Watts, K., Tucker, K., Lobb, E. A., & Mitchell, G. (2012) · Supportive Care in Cancer · doi:10.1007/s00520-012-1427-6 · Cited by 33
TP53p.R337H is a conditional cancer-predisposing mutation: further evidence from a homozygous patient
Giacomazzi, J., Selistre, S. G. D. A., Duarte, J. Á., Ribeiro, J. P., Vieira, P. J., Macedo, G. D. S., Rossi, C., Czepielewski, M. A., Netto, C. B. O., Hainaut, P. L., et al. (2013) · BMC Cancer · doi:10.1186/1471-2407-13-187 · Cited by 30
Childhood predictive genetic testing for Li–Fraumeni syndrome
Evans, D. G., Lunt, P. W., Clancy, T., & Eeles, R. A. (2009) · Familial Cancer · doi:10.1007/s10689-009-9245-9 · Cited by 29
Self-citation
Tissue-specific microRNA expression alters cancer susceptibility conferred by a TP53 noncoding variant
Deng, Q., Hu, H., Yu, X., Liu, S., Wang, L., Chen, W., Zhang, C., Zeng, Z., Cao, Y., Xu-Monette, Z. Y., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-13002-x · Cited by 32
Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion
Silva, A. G., Ewald, I. P., Sapienza, M., Pinheiro, M., Peixoto, A., de Nóbrega, A. F., Carraro, D. M., Teixeira, M. R., Ashton‐Prolla, P., Achatz, M. I., et al. (2012) · BMC Cancer · doi:10.1186/1471-2407-12-237 · Cited by 28
Prevalence of TP53 germ line mutations in young Pakistani breast cancer patients
Rashid, M. U., Gull, S., Asghar, K., Muhammad, N., Amin, A., & Hamann, U. (2012) · Familial Cancer · doi:10.1007/s10689-012-9509-7 · Cited by 27
Breast Cancer
Wright, T., & McGechan, A. (2003) · Molecular Diagnosis · doi:10.1007/bf03260021 · Cited by 27
A child with Li–Fraumeni syndrome: Modes to inactivate the second allele of TP53 in three different malignancies
Schlegelberger, B., Kreipe, H. H., Lehmann, U., Steinemann, D., Ripperger, T., Göhring, G., Thomay, K., Rump, A., Donato, N. D., & Suttorp, M. (2015) · Pediatric Blood & Cancer · doi:10.1002/pbc.25486 · Cited by 26
High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer
Evans, D. G., van Veen, E. M., Byers, H., Evans, S. J., Burghel, G. J., Woodward, E. R., Harkness, E. F., Eccles, D., Greville-Heygate, S. L., Ellingford, J. M., et al. (2021) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2020-107347 · Cited by 26
Self-citation
Prevalence and clinical impact of TP53 germline mutations in Chinese women with breast cancer
Sheng, S., Xu, Y., Guo, Y., Yao, L., Hu, L., Ouyang, T., Li, J., Wang, T., Fan, Z., Fan, T., et al. (2019) · International Journal of Cancer · doi:10.1002/ijc.32424 · Cited by 26
Pediatric cancer and Li-Fraumeni/Li-Fraumeni-like syndromes: a review for the pediatrician
Giacomazzi, C. R., Giacomazzi, J., Netto, C. B. O., Santos-Silva, P., Selistre, S. G. D. A., Maia, A. L., de Oliveira, V. Z., Camey, S. A., Goldim, J. R., & Ashton‐Prolla, P. (2015) · Revista da Associação Médica Brasileira · doi:10.1590/1806-9282.61.03.282 · Cited by 25
Late onset Li-Fraumeni Syndrome with bilateral breast cancer and other malignancies: case report and review of the literature
Kast, K., Krause, M., Schuler, M. K., Friedrich, K., Thamm, B., Bier, A., Distler, W., & Krüger, S. (2012) · BMC Cancer · doi:10.1186/1471-2407-12-217 · Cited by 25
Apparently Heterozygous TP53 Pathogenic Variants May Be Blood Limited in Patients Undergoing Hereditary Cancer Panel Testing
Mester, J. L., Jackson, S. A., Postula, K. J. V., Stettner, A. R., Solomon, S. R., Bissonnette, J., Murphy, P. D., Klein, R. T., & Hruska, K. S. (2019) · Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2019.12.003 · Cited by 27
Genotype Versus Phenotype: The Yin and Yang of Germline TP53 Mutations in Li-Fraumeni Syndrome
Nichols, K. E., & Malkin, D. M. (2015) · Journal of Clinical Oncology · doi:10.1200/jco.2015.61.5757 · Cited by 27
Genome-first approach of the prevalence and cancer phenotypes of pathogenic or likely pathogenic germline TP53 variants
de Andrade, K. C., Strande, N. T., Kim, J., Haley, J. S., Hatton, J. N., Frone, M. N., Khincha, P. P., Thone, G. M., Mirshahi, U. L., Schneider, C., et al. (2023) · Human Genetics and Genomics Advances · doi:10.1016/j.xhgg.2023.100242 · Cited by 26
Hereditary cancer: guidelines in clinical practice. Breast and ovarian cancer genetics
Eccles, D. (2004) · Annals of Oncology · doi:10.1093/annonc/mdh917 · Cited by 22
An update on genetic risk assessment and prevention: the role of genetic testing panels in breast cancer
Piccinin, C., Panchal, S., Watkins, N., & Kim, R. H. (2019) · Expert Review of Anticancer Therapy · doi:10.1080/14737140.2019.1659730 · Cited by 21
Segregation analysis of 17,425 population-based breast cancer families: Evidence for genetic susceptibility and risk prediction
Li, S., MacInnis, R. J., Lee, A., Nguyen‐Dumont, T., Dorling, L., Carvalho, S., Dite, G. S., Shah, M., Luccarini, C., Wang, Q., et al. (2022) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2022.09.006 · Cited by 20
Self-citation
The Epidemiology of Brain and Spinal Cord Tumors
Shobeiri, P., Seyedmirzaei, H., Kalantari, A., Mohammadi, E., Rezaei, N., & Hanaei, S. (2023) · Advances in experimental medicine and biology · doi:10.1007/978-3-031-14732-6_2 · Cited by 20
Recent Advances in Breast Cancer Genetics
Pasche, B. (2007) · Cancer treatment and research · doi:10.1007/978-0-387-73161-2_1 · Cited by 20
Estimating TP53 Mutation Carrier Probability in Families with Li–Fraumeni Syndrome Using LFSPRO
Peng, G., Bojadzieva, J., Ballinger, M. L., Li, J., Blackford, A. L., Mai, P. L., Savage, S. A., Thomas, D. M., Strong, L. C., & Wang, W. (2017) · Cancer Epidemiology Biomarkers & Prevention · doi:10.1158/1055-9965.epi-16-0695 · Cited by 19
A review of inherited cancer susceptibility syndromes
Brown, G. R., Simon, M. E., Wentling, C., Spencer, D. M., Parker, A. N., & Rogers, C. A. (2020) · JAAPA · doi:10.1097/01.jaa.0000721648.46099.2c · Cited by 20
Central European BRCA2 mutation carriers: birth cohort status correlates with onset of breast cancer.
Tea, M., Kroiss, R., Muhr, D., Fuerhauser-Rappaport, C., Oefner, P., Wagner, T., & Singer, C. (2014) · Maturitas · doi:10.1016/j.maturitas.2013.09.012 · Cited by 19
Emerging insights into ethnic-specific TP53 germline variants
Fischer, N. W., Ma, Y.-H. V., & Gariépy, J. (2023) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/djad106 · Cited by 24
Personalized prevention in high risk individuals: Managing hormones and beyond
Evans, D. G., Howell, S. J., & Howell, A. (2018) · The Breast · doi:10.1016/j.breast.2018.03.009 · Cited by 19
Self-citation
Sensitivity of BRCA1/2 mutation testing in 466 breast/ovarian cancer families
Evans, D. G., Bulman, M., Young, K., Gokhale, D. A., & Lalloo, F. I. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.9.e107 · Cited by 19
Self-citation
Beyond BRCA1 and BRCA2 wild‐type breast and/or ovarian cancer families: germline mutations in TP53 and PTEN
Blanco, A., Graña, B., Fachal, L., Santamariña, M., Cameselle‐Teijeiro, J., Ruíz-Ponte, C., Carracedo, Á., & Vega, A. I. (2009) · Clinical Genetics · doi:10.1111/j.1399-0004.2009.01309.x · Cited by 18
TP53 p.Arg337His germline mutation prevalence in Southern Brazil: Further evidence for mutation testing in young breast cancer patients
Hahn, E. C., Bittar, C. M., Vianna, F. S. L., Netto, C. B. O., Biazús, J. V., Cericatto, R., Cavalheiro, J. A. C., de Melo, M. P., Menke, C. H., Rabin, E. G., et al. (2018) · PLoS ONE · doi:10.1371/journal.pone.0209934 · Cited by 18
Frequent occurrence of gastric cancer in Asian kindreds with Li–Fraumeni syndrome
Ariffin, H., Chan, A. S. L., Oh, L., Abd-Ghafar, S., Ong, G. B., Mohamed, M. B., Razali, H., Juraida, E., Teo, S., Karsa, M., et al. (2014) · Clinical Genetics · doi:10.1111/cge.12525 · Cited by 18
Genetic and functional analysis of a Li Fraumeni syndrome family in China
Hu, H., Liu, J., Liao, X., Zhang, S., Li, H., Lu, R., Li, X., Wei, L., Liu, M., Xia, Z., et al. (2016) · Scientific Reports · doi:10.1038/srep20221 · Cited by 18

Authors: Lalloo, F., Varley, J., Ellis, D., Moran, A., O'Dair, L., Pharoah, P., & Evans, D. G. R.
Affiliations: St Mary's Hospital (GB)
Cancer Research UK Manchester Institute (GB)
Guy's Hospital (GB)
University of Manchester (GB)
University of Cambridge (GB)
Corresponding author: Lalloo, Fiona
ORCID: Lalloo, Fiona
Pharoah, Paul
Evans, D Gareth R
Venue: The Lancet
Publisher: Elsevier BV
Published: 2003-03
Volume: 361
Issue: 9363
Pages: 1101-1102
ISSN: 0099-5355 (ISSN-L)
0140-6736
DOI: 10.1016/s0140-6736(03)12856-5
OpenAlex: W2089797982
Cited by: 202
References: 6
Citations by year: 2026: 3 · 2025: 4 · 2024: 3 · 2023: 9 · 2022: 9 · 2021: 10 · 2020: 10 · 2019: 14 · 2018: 16 · 2017: 14 · 2016: 4 · 2015: 12 · 2014: 7 · 2013: 8 · 2012: 13
FWCI: 3.89
Type: journal article
Language: en
Open access: closed
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations: The Lancet (publishedVersion)
PubMed (publishedVersion)
DigitalGeorgetown (Georgetown University Library) (submittedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
Health Sciences › Medicine › Pathology and Forensic Medicine › Breast Lesions and Carcinomas
Health Sciences › Medicine › Epidemiology › Multiple and Secondary Primary Cancers
Keywords: early-onset breast cancer, BRCA1 mutation, BRCA2 mutation, TP53 mutation, pathogenic variants, family history (medicine), mutation frequency, mutation penetrance, hereditary breast cancer, tumor surveillance
MeSH terms: Adult, Age Factors, Breast Neoplasms, DNA Mutational Analysis, Female, Gene Frequency, Genetic Testing, Humans, Tumor Suppressor Protein p53, Risk Assessment, BRCA1 Protein, Penetrance, Genetic Predisposition to Disease, BRCA2 Protein

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Prediction of pathogenic mutations in patients with early-onset breast cancer by family history

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Citations

Cites

Cited by

Related

Metadata

Record

About these checks