Ten Genes for Inherited Breast Cancer

Biallelic Inactivation of BRCA2 in Fanconi Anemia

Howlett, N. G., Taniguchi, T., Olson, S., Cox, B., Waisfisz, Q., de Die-Smulders, C., Persky, N., Grompe, M., Joenje, H., Pals, G., et al. (2002) · Science · doi:10.1126/science.1073834 · Cited by 1,149

Low-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations

The CHEK2-Breast Cancer Consortium (2002) · Nature Genetics · doi:10.1038/ng879 · Cited by 1,104

PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene

Rahman, N., Seal, S., Thompson, D. J., Kelly, P. F., Renwick, A., Elliott, A., Reid, S., Spanova, K., Barfoot, R., Chagtai, T., et al. (2006) · Nature Genetics · doi:10.1038/ng1959 · Cited by 1,026

Essential role for nuclear PTEN in maintaining chromosomal integrity

Shen, W. H., Balajee, A. S., Wang, J., Wu, H., Eng, C., Pandolfi, P. P., & Yin, Y. (2007) · Cell · doi:10.1016/j.cell.2006.11.042 · Cited by 979

Control of BRCA2 Cellular and Clinical Functions by a Nuclear Partner, PALB2

Xia, B., Sheng, Q., Nakanishi, K., Ohashi, A., Wu, J., Christ, N., Liu, X., Jasin, M., Couch, F. J., & Livingston, D. M. (2006) · Molecular Cell · doi:10.1016/j.molcel.2006.05.022 · Cited by 861

ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles

Renwick, A., Thompson, D. J., Seal, S., Kelly, P. F., Chagtai, T., Ahmed, M., North, B. V., Jayatilake, H., Barfoot, R., Spanova, K., et al. (2006) · Nature Genetics · doi:10.1038/ng1837 · Cited by 770

Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles

The Breast Cancer Susceptibility Collaboration (UK), Seal, S., Thompson, D., Renwick, A., Elliott, A., Kelly, P., Barfoot, R., Chagtai, T., Jayatilake, H., Ahmed, M., et al. (2006) · Nature Genetics · doi:10.1038/ng1902 · Cited by 746

Spectrum of Mutations in BRCA1, BRCA2, CHEK2, and TP53 in Families at High Risk of Breast Cancer

Walsh, T., Casadei, S., Coats, K. H., Swisher, E. M., Stray, S. M., Higgins, J., Roach, K. C., Mandell, J. B., Lee, M. K., Čierniková, S., et al. (2006) · JAMA · doi:10.1001/jama.295.12.1379 · Cited by 673

Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer

Reid, S., Schindler, D., Hanenberg, H., Barker, K., Hanks, S., Kalb, R., Neveling, K., Kelly, P., Seal, S., Freund, M., et al. (2007) · Nature Genetics · doi:10.1038/ng1947 · Cited by 642

A recurrent mutation in PALB2 in Finnish cancer families

Erkko, H., Xia, B., Nikkilä, J., Schleutker, J., Syrjäkoski, K., Mannermaa, A., Kallioniemi, A. H., Pylkäs, K., Karppinen, S., Rapakko, K., et al. (2007) · Nature · doi:10.1038/nature05609 · Cited by 471

The DNA Damage Response: Making It Safe to Play with Knives

Ciccia, A., & Elledge, S. J. (2010) · Molecular Cell · doi:10.1016/j.molcel.2010.09.019 · Cited by 4,368

Genetic Heterogeneity in Human Disease

McClellan, J., & King, M.-C. (2010) · Cell · doi:10.1016/j.cell.2010.03.032 · Cited by 981

Progress and promise: highlights of the international expert consensus on the primary therapy of early breast cancer 2007

Goldhirsch, A., Wood, W. C., Gelber, R. D., Coates, A. S., Thurlimann, B. J. K., & Senn, H.-J. (2007) · Annals of Oncology · doi:10.1093/annonc/mdm271 · Cited by 932

Repair of Strand Breaks by Homologous RecombinationPreprint

Jasin, M., & Rothstein, R. J. (2013) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a012740 · Cited by 929

Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene

Meindl, A., Hellebrand, H., Wiek, C., Erven, V., Wappenschmidt, B., Niederacher, D., Freund, M., Lichtner, P., Hartmann, L., Schaal, H., et al. (2010) · Nature Genetics · doi:10.1038/ng.569 · Cited by 743

MicroRNA function in cancer: oncogene or a tumor suppressor?

Shenouda, S. K., & Alahari, S. K. (2009) · Cancer and Metastasis Reviews · doi:10.1007/s10555-009-9188-5 · Cited by 685

A survey of tools for variant analysis of next-generation genome sequencing data

Pabinger, S., Dander, A., Fischer, M., Snajder, R., Sperk, M., Efremova, M., Krabichler, B., Speicher, M. R., Zschocke, J., & Trajanoski, Z. (2013) · Briefings in Bioinformatics · doi:10.1093/bib/bbs086 · Cited by 631

In search of breast cancer culprits: suspecting the suspected and the unsuspected.

Subik, K., Lee, J.-F., Baxter, L., Strzepek, T., Costello, D., Crowley, P., Xing, L., Hung, M., Bonfiglio, T. A., Hicks, D. G., et al. (2008) · PubMed Central · Cited by 577

Breast Cancer Epidemiology and Risk Factors

Rojas, K. E., & Stuckey, A. R. (2016) · Clinical Obstetrics & Gynecology · doi:10.1097/grf.0000000000000239 · Cited by 573

Oncogenes and Tumor Suppressor GenesPreprint

Lee, E. Y., & Muller, W. J. (2010) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a003236 · Cited by 575

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

Walsh, T., Lee, M. K., Casadei, S., Thornton, A., Stray, S. M., Pennil, C. C., Nord, A. S., Mandell, J. B., Swisher, E. M., & King, M. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1007983107 · Cited by 503

Assessing Women at High Risk of Breast Cancer: A Review of Risk Assessment Models

Amir, E., Freedman, O. C., Šeruga, B., & Evans, D. G. (2010) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/djq088 · Cited by 471

Mechanisms of double-strand break repair in somatic mammalian cells

Hartlerode, A. J., & Scully, R. (2009) · Biochemical Journal · doi:10.1042/bj20090942 · Cited by 395

Transcriptome profiling revealed multiple genes and ECM-receptor interaction pathways that may be associated with breast cancer

Bao, Y., Wang, L., Shi, L., Yun, F., Liu, X., Chen, Y., Chen, C., Ren, Y., & Jia, Y. (2019) · Cellular & Molecular Biology Letters · doi:10.1186/s11658-019-0162-0 · Cited by 355

Consensus Guidelines on Genetic` Testing for Hereditary Breast Cancer from the American Society of Breast Surgeons

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

Association genetics of complex traits in plants

Ingvarsson, P. K., & Street, N. R. (2010) · New Phytologist · doi:10.1111/j.1469-8137.2010.03593.x · Cited by 353

Cancer Stem Cells Contribute to Cisplatin Resistance in Brca1/p53 –Mediated Mouse Mammary Tumors

Shafee, N., Smith, C. R., Wei, S., Kim, Y. H., Mills, G. B., Hortobágyi, G. N., Stanbridge, E. J., & Lee, E. Y.-H. P. (2008) · Cancer Research · doi:10.1158/0008-5472.can-07-5480 · Cited by 308

Nuclear Receptor Coregulators and Human Disease

Lonard, D. M., Lanz, R. B., & O’Malley, B. W. (2007) · Endocrine Reviews · doi:10.1210/er.2007-0012 · Cited by 318

Distinct gene mutation profiles among luminal-type and basal-type breast cancer cell lines

Hollestelle, A., Nagel, J. H. A., Smid, M., Lam, S., Elstrodt, F., Wasielewski, M., Ng, S. S., French, P. J., Peeters, J. K., Rozendaal, M. J., et al. (2009) · Breast Cancer Research and Treatment · doi:10.1007/s10549-009-0460-8 · Cited by 308

DNA Double-Strand Break Repair as Determinant of Cellular Radiosensitivity to Killing and Target in Radiation Therapy

Mladenov, E., Magin, S., Soni, A., & Iliakis, G. E. (2013) · Frontiers in Oncology · doi:10.3389/fonc.2013.00113 · Cited by 308

Family-based designs for genome-wide association studies

Ott, J., Kamatani, Y., & Lathrop, M. G. (2011) · Nature Reviews Genetics · doi:10.1038/nrg2989 · Cited by 278

Risk reduction and survival benefit of prophylactic surgery in BRCA mutation carriers, a systematic review

Ludwig, K. K., Neuner, J., Butler, A., Geurts, J. L., & Kong, A. L. (2016) · The American Journal of Surgery · doi:10.1016/j.amjsurg.2016.06.010 · Cited by 243

Pharmacogenetics: Implications of race and ethnicity on defining genetic profiles for personalized medicine

Ortega, V. E., & Meyers, D. A. (2014) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2013.10.040 · Cited by 237

Genomic Instability and Cancer

Dai, Y. Y. W. (2014) · Journal of Carcinogenesis & Mutagenesis · doi:10.4172/2157-2518.1000165 · Cited by 264

RAP80-directed tuning of BRCA1 homologous recombination function at ionizing radiation-induced nuclear fociPreprint

Hu, Y., Scully, R., Sobhian, B., Xie, A., Shestakova, E. A., & Livingston, D. M. (2011) · Genes & Development · doi:10.1101/gad.2011011 · Cited by 244

DNA Damage and Repair: From Molecular Mechanisms to Health Implications

Fabio Altieri, F., Grillo, C., Maceroni, M., & Chichiarelli, S. (2008) · Antioxidants and Redox Signaling · doi:10.1089/ars.2007.1830 · Cited by 222

Breast cancer susceptibility: current knowledge and implications for genetic counselling

Ripperger, T., Gadzicki, D., Meindl, A., & Schlegelberger, B. (2008) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.212 · Cited by 221

Human diseases through the lens of network biology

Furlong, L. I. (2012) · Trends in Genetics · doi:10.1016/j.tig.2012.11.004 · Cited by 196

Epidemiology of Breast Cancer

Ban, K. A., & Godellas, C. V. (2014) · Surgical Oncology Clinics of North America · doi:10.1016/j.soc.2014.03.011 · Cited by 202

BRCA1 haploinsufficiency for replication stress suppression in primary cells

Pathania, S., Bade, S., Guillou, M. L., Burke, K. A., Reed, R., Bowman-Colin, C., Su, Y., Ting, D. T., Polyák, K., Richardson, A. L., et al. (2014) · Nature Communications · doi:10.1038/ncomms6496 · Cited by 183

PARP1-Driven Poly-ADP-Ribosylation Regulates BRCA1 Function in Homologous Recombination–Mediated DNA Repair

Hu, Y., Petit, S. A., Ficarro, S. B., Toomire, K. J., Xie, A., Lim, E., Cao, S. A., Park, E., Eck, M. J., Scully, R., et al. (2014) · Cancer Discovery · doi:10.1158/2159-8290.cd-13-0891 · Cited by 181

Enhancement of RAD51 recombinase activity by the tumor suppressor PALB2

Dray, E. V., Etchin, J., Wiese, C., Saro, D., Williams, G. J., Hammel, M., Yu, X., Galkin, V. E., Liu, D., Tsai, M.-S., et al. (2010) · Nature Structural & Molecular Biology · doi:10.1038/nsmb.1916 · Cited by 168

The importance of BRCA1 and BRCA2 genes mutations in breast cancer development.

Mehrgou, A., & Akouchekian, M. (2016) · PubMed Central · Cited by 166

Hereditary breast and ovarian cancer susceptibility genes (Review)

Kobayashi, H., Ohno, S., Sasaki, Y., & Matsuura, M. (2013) · Oncology Reports · doi:10.3892/or.2013.2541 · Cited by 173

Mechanisms of BRCA1 Tumor Suppression

Silver, D. P., & Livingston, D. M. (2012) · Cancer Discovery · doi:10.1158/2159-8290.cd-12-0221 · Cited by 159

The causes of replication stress and their consequences on genome stability and cell fate

Magdalou, I., López, B. S., Pasero, P., & Lambert, S. (2014) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2014.04.035 · Cited by 183

Aberrations of the MRE11–RAD50–NBS1 DNA damage sensor complex in human breast cancer: MRE11 as a candidate familial cancer‐predisposing gene

Bártková, J., Tommiska, J., Oplustilova, L., Aaltonen, K., Tamminen, A., Heikkinen, T., Mistrík, M., Aittomäki, K., BLOMQVIST, C. P., Heikkilä, P., et al. (2008) · Molecular Oncology · doi:10.1016/j.molonc.2008.09.007 · Cited by 164

PALB2 mutations in familial breast and pancreatic cancer

Hofstatter, E. W., Domchek, S. M., Miron, A., Garber, J. E., Wang, M., Componeschi, K. P., Boghossian, L., Miron, P. L., Nathanson, K. L., & Tung, N. (2011) · Familial Cancer · doi:10.1007/s10689-011-9426-1 · Cited by 155

Mammary Tumor Development in Dogs Is Associated with BRCA1 and BRCA2

Rivera, P., Melin, M., Biagi, T., Fall, T., Häggström, J. U., Lindblad‐Toh, K., & von Euler, H. (2009) · Cancer Research · doi:10.1158/0008-5472.can-09-1725 · Cited by 161

Naturally-Occurring Canine Mammary Tumors as a Translational Model for Human Breast Cancer

Gray, M., Meehan, J., Martínez-Pérez, C., Kay, C., Turnbull, A., Morrison, L. R., Pang, L. Y., & Argyle, D. J. (2020) · Frontiers in Oncology · doi:10.3389/fonc.2020.00617 · Cited by 154

DNA helicase and helicase-nuclease enzymes with a conserved iron-sulfur cluster

Wu, Y., & Brosh, R. M. (2012) · Nucleic Acids Research · doi:10.1093/nar/gks039 · Cited by 150

Is homologous recombination really an error-free process?

Guirouilh‐Barbat, J., Lambert, S., Bertrand, P., & López, B. S. (2014) · Frontiers in Genetics · doi:10.3389/fgene.2014.00175 · Cited by 161

Detecting rare variants for complex traits using family and unrelated data

Zhu, X., Feng, T., Li, Y., Lu, Q. L., & Elston, R. C. (2009) · Genetic Epidemiology · doi:10.1002/gepi.20449 · Cited by 135

Autophagy Opposes p53-Mediated Tumor Barrier to Facilitate Tumorigenesis in a Model of PALB2 -Associated Hereditary Breast Cancer

Huo, Y., Cai, H., Teplova, I., Bowman-Colin, C., Chen, G., Price, S. M., Barnard, N., Ganesan, S., Karantza, V., White, E., et al. (2013) · Cancer Discovery · doi:10.1158/2159-8290.cd-13-0011 · Cited by 135

AKT1 Inhibits Homologous Recombination by Inducing Cytoplasmic Retention of BRCA1 and RAD51

Plo, I., Laulier, C., Gauthier, L., Lebrun, F., Calvo, F. M., & López, B. S. (2008) · Cancer Research · doi:10.1158/0008-5472.can-08-0861 · Cited by 132

Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair

Park, J.-Y., Singh, T. R., Nassar, N., Zhang, F., Freund, M., Hanenberg, H., Meetei, A. R., & Andreassen, P. R. (2014) · Oncogene · doi:10.1038/onc.2013.421 · Cited by 130

Hereditary Breast Cancer: Clinical, Pathological and Molecular Characteristics

Larsen, M. J., Thomassen, M., Gerdes, A., & Kruse, T. A. (2014) · Breast Cancer Basic and Clinical Research · doi:10.4137/bcbcr.s18715 · Cited by 126

Multigene Panel Testing Detects Equal Rates of Pathogenic BRCA1/2 Mutations and has a Higher Diagnostic Yield Compared to Limited BRCA1/2 Analysis Alone in Patients at Risk for Hereditary Breast Cancer

Kapoor, N. S., Curcio, L. D., Blakemore, C. A., Bremner, A. K., McFarland, R. E., West, J. G., & Banks, K. C. (2015) · Annals of Surgical Oncology · doi:10.1245/s10434-015-4754-2 · Cited by 111

An miR-502–Binding Site Single-Nucleotide Polymorphism in the 3′-Untranslated Region of the SET8 Gene Is Associated with Early Age of Breast Cancer Onset

Song, F., Zheng, H., Liu, B., Wei, S., Dai, H., Zhang, L., Calin, G. A., Hao, X., Wei, Q., Zhang, W., et al. (2009) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-09-0826 · Cited by 111

Overexpression of RAD51 suppresses recombination defects: a possible mechanism to reverse genomic instability

Schild, D., & Wiese, C. (2009) · Nucleic Acids Research · doi:10.1093/nar/gkp1063 · Cited by 111

Effect of rare variants in ADRB2 on risk of severe exacerbations and symptom control during longacting β agonist treatment in a multiethnic asthma population: a genetic study

Ortega, V. E., Hawkins, G. A., Moore, W. C., Hastie, A. T., Ampleford, E. J., Busse, W. W., Castro, M., Chardón, D., ERZURUM, S. C., Israel, E., et al. (2014) · The Lancet Respiratory Medicine · doi:10.1016/s2213-2600(13)70289-3 · Cited by 109

Hereditary Breast Cancer and the BRCA1-Associated FANCJ/BACH1/BRIP1

Cantor, S. B., & Guillemette, S. (2011) · Future Oncology · doi:10.2217/fon.10.191 · Cited by 106

Discovering moderate-risk breast cancer susceptibility genes

Hollestelle, A., Wasielewski, M., Martens, J. W. M., & Schutte, M. E. M. (2010) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2010.02.009 · Cited by 109

Penetrance Analysis of the PALB2 c.1592delT Founder Mutation

Erkko, H., Dowty, J. G., Nikkilä, J., Syrjäkoski, K., Mannermaa, A., Pylkäs, K., Southey, M. C., Holli, K., Kallioniemi, A. H., Jukkola‐Vuorinen, A., et al. (2008) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-08-0210 · Cited by 107

Genomic rearrangements in BRCA1 and BRCA2: a literature review

Ewald, I. P., Ribeiro, P. L. I., Palmero, E. I., Cossio, S. L., Giugliani, R., & Ashton‐Prolla, P. (2009) · Genetics and Molecular Biology · doi:10.1590/s1415-47572009005000049 · Cited by 101

Screening of over 1000 Indian patients with breast and/or ovarian cancer with a multi-gene panel: prevalence of BRCA1/2 and non-BRCA mutations

Singh, J., Thota, N., Singh, S., Padhi, S., Mohan, P., Deshwal, S., Sur, S., Ghosh, M., Agarwal, A., Sarin, R., et al. (2018) · Breast Cancer Research and Treatment · doi:10.1007/s10549-018-4726-x · Cited by 96

Comprehensive Analysis of BRCA1, BRCA2 and TP53 Germline Mutation and Tumor Characterization: A Portrait of Early-Onset Breast Cancer in Brazil

Carraro, D. M., Folgueira, M. A. A. K., Lisbôa, B. C. G., Olivieri, E. H. R., Krepischi, A. C. V., de Carvalho, A. F., Mota, L. D. D. C., Puga, R., Maciel, M. D. S., Michelli, R. A. D., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0057581 · Cited by 96

Initiation of DNA double strand break repair: signaling and single-stranded resection dictate the choice between homologous recombination, non-homologous end-joining and alternative end-joining.

Grabarz, A., Barascu, A., Guirouilh‐Barbat, J., & López, B. S. (2012) · Europe PMC (PubMed Central) · Cited by 93

A Novel Breast Cancer–Associated BRIP1 ( FANCJ/BACH1 ) Germ-line Mutation Impairs Protein Stability and Function

De Nicolo, A., Tancredi, M., Lombardi, G., Flemma, C. C., Barbuti, S., Di Cristofano, C., Sobhian, B., Bevilacqua, G., Drapkin, R., & Caligo, M. A. (2008) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-08-0087 · Cited by 91

Cancer predisposing BARD1 mutations in breast–ovarian cancer families

Ratajska, M., Antoszewska, E., Piskorz, A., Brożek, I., Borg, Å., Kusmierek, H., Biernat, W., & Limon, J. (2011) · Breast Cancer Research and Treatment · doi:10.1007/s10549-011-1403-8 · Cited by 96

Spontaneous slow replication fork progression elicits mitosis alterations in homologous recombination-deficient mammalian cells

Wilhelm, T., Magdalou, I., Barascu, A., Técher, H., Debatisse, M., & López, B. S. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1311520111 · Cited by 103

Breast cancer genes: beyond BRCA1 and BRCA2

Vega, A. (2013) · Frontiers in bioscience · doi:10.2741/4185 · Cited by 93

The prevalence of PALB2 germline mutations in BRCA1/BRCA2 negative Chinese women with early onset breast cancer or affected relatives

Cao, A., Huang, J., Hu, Z., Li, W., Ma, Z., Tang, L., Zhang, B., Su, F., Zhou, J., Di, G., et al. (2008) · Breast Cancer Research and Treatment · doi:10.1007/s10549-008-0036-z · Cited by 88

Nanoparticle therapeutics: Technologies and methods for overcoming cancer

Cerqueira, B. B. S., Lasham, A., Shelling, A. N., & Al‐Kassas, R. (2015) · European Journal of Pharmaceutics and Biopharmaceutics · doi:10.1016/j.ejpb.2015.10.007 · Cited by 92

The spectrum of BRCA1 and BRCA2 alleles in Latin America and the Caribbean: a clinical perspective

Dutil, J., Golubeva, V. A., Pacheco‐Torres, A. L., Diaz-Zabala, H. J., Matta, J. L., & Monteiro, Á. N. A. (2015) · Breast Cancer Research and Treatment · doi:10.1007/s10549-015-3629-3 · Cited by 87

Drosophila brca2 Is Required for Mitotic and Meiotic DNA Repair and Efficient Activation of the Meiotic Recombination Checkpoint

Klovstad, M. S., Abdu, U., & Schüpbach, T. (2005) · PLoS Genetics · doi:10.1371/journal.pgen.0040031 · Cited by 92

Cancer predisposing missense and protein truncatingBARD1mutations in non-BRCA1orBRCA2breast cancer families

Brakeleer, S. D., Grève, J. D., Loris, R., Janin, N., Lissens, W., Sermijn, E., & Teugels, E. (2010) · Human Mutation · doi:10.1002/humu.21200 · Cited by 89

Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients

da Silva, F. C. C., Lisbôa, B. C. G., Figueiredo, M. C., Torrezan, G. T., Santos, É. M. M., Krepischi, A. C. V., Rossi, B. M., Achatz, M. I., & Carraro, D. M. (2014) · BMC Medical Genetics · doi:10.1186/1471-2350-15-55 · Cited by 88

Molecular Oncology of Breast Cancer

Joshi, H. N., & Press, M. F. (2017) · Elsevier eBooks · doi:10.1016/b978-0-323-35955-9.00022-2 · Cited by 85

Importance of DNA damage checkpoints in the pathogenesis of human cancers

Poehlmann, A., & Roessner, A. (2010) · Pathology - Research and Practice · doi:10.1016/j.prp.2010.06.006 · Cited by 88

Clinical evaluation of PRMT1 gene expression in breast cancer

Mathioudaki, K., Scorilas, A., Ardavanis, A. S., Lymberi, P., Tsiambas, E., Devetzi, M., Apostolaki, A., & Talieri, M. (2011) · Tumor Biology · doi:10.1007/s13277-010-0153-2 · Cited by 81

Clinical correlates of low-risk variants in FGFR2, TNRC9, MAP3K1, LSP1 and 8q24 in a Dutch cohort of incident breast cancer cases

Huijts, P. E. A., Vreeswijk, M. P. G., Kroeze‐Jansema, K., Jacobi, C. E., Seynaeve, C., Krol-Warmerdam, E. M., Wijers‐Koster, P. M., Blom, J., Pooley, K. A., Klijn, J. G. M., et al. (2007) · Breast Cancer Research · doi:10.1186/bcr1793 · Cited by 79

Germline mutation in the RAD51B gene confers predisposition to breast cancer

Golmard, L., Caux‐Moncoutier, V., Davy, G., Ageeli, E. A., Poirot, B., Tirapo, C., Michaux, D., Barbaroux, C., d’Enghien, C. D., Nicolas, A., et al. (2013) · BMC Cancer · doi:10.1186/1471-2407-13-484 · Cited by 81

PALB2: The hub of a network of tumor suppressors involved in DNA damage responses

Park, J., Zhang, F., & Andreassen, P. R. (2014) · Biochimica et Biophysica Acta (BBA) - Reviews on Cancer · doi:10.1016/j.bbcan.2014.06.003 · Cited by 83

Characterization of potential driver mutations involved in human breast cancer by computational approaches

Rajendran, B. K., & Deng, C.-X. (2017) · Oncotarget · doi:10.18632/oncotarget.17225 · Cited by 73

Epigenetics and environment in breast cancer: New paradigms for anti-cancer therapies

Thakur, C., Qiu, Y., Fu, Y. S., Bi, Z., Zhang, W., Ji, H., & Chen, F. (2022) · Frontiers in Oncology · doi:10.3389/fonc.2022.971288 · Cited by 74

Novel genetic variants in microRNA genes and familial breast cancer

Shen, J., Ambrosone, C. B., & Zhao, H. (2008) · International Journal of Cancer · doi:10.1002/ijc.24008 · Cited by 73

Emerging roles of Jab1/CSN5 in DNA damage response, DNA repair, and cancer

Pan, Y., Yang, H., & Claret, F. X. (2014) · Cancer Biology & Therapy · doi:10.4161/cbt.27823 · Cited by 73

Bilateral breast cancers

Narod, S. A. (2014) · Nature Reviews Clinical Oncology · doi:10.1038/nrclinonc.2014.3 · Cited by 72

Detecting Association of Rare and Common Variants by Testing an Optimally Weighted Combination of Variants

Sha, Q., Wang, X., Wang, X., & Zhang, S. (2012) · Genetic Epidemiology · doi:10.1002/gepi.21649 · Cited by 72

RAD51C Germline Mutations in Breast and Ovarian Cancer Cases from High-Risk Families

Clague, J., Wilhoite, G., Adamson, A. W., Bailis, A. M., Weitzel, J. N., & Neuhausen, S. L. (2011) · PLoS ONE · doi:10.1371/journal.pone.0025632 · Cited by 71

Association of single nucleotide polymorphisms in Pre-miR-27a, Pre-miR-196a2, Pre-miR-423, miR-608 and Pre-miR-618 with breast cancer susceptibility in a South American population

Morales, S., Gulppi, F., González‐Hormazábal, P., Fernández‐Ramires, R., Bravo, T., Reyes, J. M., Gómez, F., Waugh, E., & Lilian Jara, S. (2016) · BMC Genetics · doi:10.1186/s12863-016-0415-0 · Cited by 69

Recognition of DNA double strand breaks by the BRCA1 tumor suppressor network

Greenberg, R. A. (2008) · Chromosoma · doi:10.1007/s00412-008-0154-8 · Cited by 69

Breast-Cancer Risk in Families with Mutations in PALB2

Thomas, P., & Brown, P. (2015) · Breast Diseases A Year Book Quarterly · doi:10.1016/j.breastdis.2015.07.017 · Cited by 67

Genetic Epidemiology of Breast Cancer in Latin America

Zavala, V. A., Serrano-Gomez, S. J., Dutil, J., & Fejerman, L. (2019) · Genes · doi:10.3390/genes10020153 · Cited by 67

Mre11-Sae2 and RPA Collaborate to Prevent Palindromic Gene Amplification

Deng, S., Yin, Y. A., Petes, T. D., & Symington, L. S. (2015) · Molecular Cell · doi:10.1016/j.molcel.2015.09.027 · Cited by 64

Pathology of Hereditary Breast and Ovarian Cancer

Hodgson, A., & Turashvili, G. (2020) · Frontiers in Oncology · doi:10.3389/fonc.2020.531790 · Cited by 64

The gene regulatory network for breast cancer: integrated regulatory landscape of cancer hallmarks

Emmert‐Streib, F., Simoes, R. D. M., Mullan, P. B., Haibe‐Kains, B., & Dehmer, M. (2014) · Frontiers in Genetics · doi:10.3389/fgene.2014.00015 · Cited by 63

A ChIP–chip approach reveals a novel role for transcription factor IRF1 in the DNA damage response

Frontini, M., Vijayakumar, M., Garvin, A. J., & Clarke, N. (2009) · Nucleic Acids Research · doi:10.1093/nar/gkn1051 · Cited by 63

Pathogenic and likely pathogenic variants in PALB2 , CHEK2 , and other known breast cancer susceptibility genes among 1054 BRCA ‐negative Hispanics with breast cancer

Weitzel, J. N., Neuhausen, S. L., Adamson, A. W., Tao, S., Ricker, C. N., Maoz, A., Rosenblatt, M., Nehoray, B., Sand, S. R., Steele, L., et al. (2019) · Cancer · doi:10.1002/cncr.32083 · Cited by 60

Breast Cancer–Associated Abraxas Mutation Disrupts Nuclear Localization and DNA Damage Response Functions

Solyom, S., Aressy, B., Pylkäs, K., Patterson-Fortin, J., Hartikainen, J. M., Kallioniemi, A., Kauppila, S., Nikkilä, J., Kosma, V.-M., Mannermaa, A., et al. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3003223 · Cited by 59

Further evidence for the contribution of the RAD51C gene in hereditary breast and ovarian cancer susceptibility

Vuorela, M., Pylkäs, K., Hartikainen, J. M., Sundfeldt, K., Lindblom, A., von Wachenfeldt, A., Haanpää, M. K., Puistola, U., Rosengren, A., Anttila, M., et al. (2011) · Breast Cancer Research and Treatment · doi:10.1007/s10549-011-1677-x · Cited by 60

Functional characterization connects individual patient mutations in ataxia telangiectasia mutated (ATM) with dysfunction of specific DNA double‐strand break‐repair signaling pathways

Keimling, M., Volčič, M., Csernok, A., Wieland, B., Dörk, T., & Wiesmüller, L. (2011) · The FASEB Journal · doi:10.1096/fj.11-185546 · Cited by 59

Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer

Blanco, A., de la Hoya, M., Balmañà, J., y Cajal, T. R., Teulé, À., Miramar, M.-D., Esteban, E., Infante, M., Benitez, J. J., Torres, A., et al. (2011) · Breast Cancer Research and Treatment · doi:10.1007/s10549-011-1842-2 · Cited by 57

The influence of genetic variation in 30 selected genes on the clinical characteristics of early onset breast cancer

Tapper, W., Hammond, V., Gerty, S. M., Ennis, S., Simmonds, P., Collins, A. R., the Prospective study of Outcomes in Sporadic versus Hereditary breast cancer (POSH) Steering Group, & Eccles, D. (2008) · Breast Cancer Research · doi:10.1186/bcr2213 · Cited by 57

DNA double-strand breaks induced by mammographic screening procedures in human mammary epithelial cells

Colin, C., Devic, C., Noël, A., Rabilloud, M., Zabot, M. T., Isaac, S., Giraud, S., Riche, B., Valette, P., Rodriguez‐Lafrasse, C., et al. (2011) · International Journal of Radiation Biology · doi:10.3109/09553002.2011.608410 · Cited by 57

Germline Genetic Variants Disturbing the Let-7/LIN28 Double-Negative Feedback Loop Alter Breast Cancer Susceptibility

Chen, A.-X., Yu, K., Fan, L., Li, J., Yang, C., Huang, A., & Shao, Z. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002259 · Cited by 56

A Comprehensive Review of Ovarian Serous Carcinoma

Hatano, Y., Hatano, K., Tamada, M., Morishige, K.-I., Tomita, H., Yanai, H., & Hara, A. (2019) · Advances in Anatomic Pathology · doi:10.1097/pap.0000000000000243 · Cited by 56

PALB2 mutations in German and Russian patients with bilateral breast cancer

Bogdanova, N. V., Соколенко, А. П., Iyevleva, A. G., Алексахина, С. Н., Blaut, M. A., Bremer, M., Christiansen, H., Rave‐Fränk, M., Dörk, T., & Имянитов, Е. Н. (2010) · Breast Cancer Research and Treatment · doi:10.1007/s10549-010-1290-4 · Cited by 53

RASSF1A Polymorphism A133S Is Associated with Early Onset Breast Cancer in BRCA1/2 Mutation Carriers

Gao, B., Xie, X., Huang, C., Shames, D. S., Chen, T. T.-L., Lewis, C. M., Bian, A., Zhang, B., Olopade, O. I., Garber, J. E., et al. (2008) · Cancer Research · doi:10.1158/0008-5472.can-07-5183 · Cited by 53

Inherited breast and ovarian cancer

Szabo, C., & King, M. (1995) · Human Molecular Genetics · doi:10.1093/hmg/4.suppl_1.1811 · Cited by 202

The Fanconi anaemia/BRCA pathway and cancer susceptibility. Searching for new therapeutic targets

García, M. J., & Benitez, J. J. (2008) · Clinical & Translational Oncology · doi:10.1007/s12094-008-0160-6 · Cited by 34

Tumor suppressor genes and breast cancer

Buchholz, T. A., Weil, M. M., Story, M. D., Strom, E. A., Brock, W. A., & McNeese, M. D. (1999) · Radiation Oncology Investigations · doi:10.1002/(sici)1520-6823(1999)7:2 · Cited by 32

Breast Cancer Predisposition Syndromes

Hemel, D., & Domchek, S. M. (2010) · Hematology/Oncology Clinics of North America · doi:10.1016/j.hoc.2010.06.004 · Cited by 30

Breast Cancer Gene (BRCA1, BRCA2)

Lee, C. H. (2003) · Journal of Medicine and Life Science · doi:10.22730/jmls.2003.1.1.1