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

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 · see citing works

Breast 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

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 1,120 · 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

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 · 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

Li-Fraumeni Syndrome

Malkin, D. M. (2011) · Genes & Cancer · doi:10.1177/1947601911413466 · Cited by 508 · 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

Hereditary Breast Cancer: The Era of New Susceptibility Genes

Apostolou, P., & Fostira, F. (2013) · BioMed Research International · doi:10.1155/2013/747318 · Cited by 353 · see citing works

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 · see citing works

Models of genetic susceptibility to breast cancer

Antoniou, A. C., & Easton, D. F. (2006) · Oncogene · doi:10.1038/sj.onc.1209879 · Cited by 303 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 257 · see citing works

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 · see citing works

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 · see citing works

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 226 · see citing works

Familial Breast Cancer

Lalloo, F. I., & Evans, D. G. (2012) · Clinical Genetics · doi:10.1111/j.1399-0004.2012.01859.x · Cited by 207 · see citing works

Breast cancer risk-assessment models

Evans, D. G., & Howell, A. (2007) · Breast Cancer Research · doi:10.1186/bcr1750 · Cited by 185 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

Detailed haplotype analysis at the <i>TP53</i> 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 · see citing works

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 · see citing works

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 150 · see citing works

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 · see citing works

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 103 · see citing works

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 99 · see citing works

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 97 · see citing works

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 · see citing works

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 84 · see citing works

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 · see citing works

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 84 · see citing works

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 · see citing works

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 75 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 62 · see citing works

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 · see citing works

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 58 · see citing works

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 53 · see citing works

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 · see citing works

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 51 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

Hereditary myeloid malignancies

Rafei, H., & Dinardo, C. D. (2019) · Best Practice & Research Clinical Haematology · doi:10.1016/j.beha.2019.05.001 · Cited by 48 · see citing works

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 · see citing works

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 47 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 43 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 36 · see citing works

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 35 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 30 · see citing works

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 · see citing works

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 · see citing works

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 29 · see citing works

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 · see citing works

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 · see citing works

Breast Cancer

Wright, T., & McGechan, A. (2003) · Molecular Diagnosis · doi:10.1007/bf03260021 · Cited by 27 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 24 · see citing works

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 · see citing works

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 22 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 19 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 17 · see citing works

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 · see citing works

Inverse association between age at the time of radiation exposure and extent of disease in cases of radiation-induced childhood thyroid carcinoma in Belarus

Farahati, J., Demidchik, E. P., Biko, J., & Reiners, C. (2000) · Cancer · doi:10.1002/(sici)1097-0142(20000315)88:6 · Cited by 76 · see citing works

Prevalence of BRCA1 and BRCA2 germline mutations in young breast cancer patients: A population‐based study

de Sanjosé, S., Léoné, M., Berez, V., Izquierdo, Á., Font, R., Brunet, J., Louat, T., Vilardell, L., Borràs, J., Viladiu, P., et al. (2003) · International Journal of Cancer · doi:10.1002/ijc.11271 · Cited by 114 · see citing works

Population-Based Estimate of the Contribution of TP53 Mutations to Subgroups of Early-Onset Breast Cancer: Australian Breast Cancer Family Study

Mouchawar, J., Korch, C. T., Byers, T., Pitts, T. M., Li, E., McCredie, M. R. E., Giles, G. G., Hopper, J. L., & Southey, M. C. (2010) · Cancer Research · doi:10.1158/0008-5472.can-09-0851 · Cited by 92 · see citing works

Hereditary Susceptibility to Breast Cancer: Significance of Age of Onset in Family History and Contribution of BRCA1 and BRCA2

Frank, T. S., Deffenbaugh, A. M., Hulick, M., & Gumpper, K. (2002) · Disease Markers · doi:10.1155/1999/291023 · Cited by 11 · see citing works