TY - JOUR AU - Bakir, M. AU - Gabra, H. PY - 2014 DA - 2014// TI - The molecular genetics of hereditary and sporadic ovarian cancer: implications for the future JO - Br Med Bull VL - 112 UR - https://doi.org/10.1093/bmb/ldu034 DO - 10.1093/bmb/ldu034 ID - Bakir2014 ER - TY - JOUR AU - Silva, F. C. AU - Lisboa, B. C. AU - Figueiredo, M. C. AU - Torrezan, G. T. AU - Santos, E. M. AU - Krepischi, A. C. PY - 2014 DA - 2014// TI - Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients JO - BMC Med Genet VL - 15 UR - https://doi.org/10.1186/1471-2350-15-55 DO - 10.1186/1471-2350-15-55 ID - Silva2014 ER - TY - JOUR AU - Roy, R. AU - Chun, J. AU - Powell, S. N. PY - 2012 DA - 2012// TI - BRCA1 and BRCA2: different roles in a common pathway of genome protection JO - Nat Rev Cancer VL - 12 UR - https://doi.org/10.1038/nrc3181 DO - 10.1038/nrc3181 ID - Roy2012 ER - TY - BOOK AU - Clinical, N. AU - Guidelines, P. AU - Guidelines, N. PY - 2015 DA - 2015// TI - Genetic / Familial High-Risk Assessment: Breast and Ovarian ID - Clinical2015 ER - TY - JOUR AU - Pritchard, C. C. PY - 2019 DA - 2019// TI - New name for breast-cancer syndrome could help to save lives JO - Nature VL - 1 UR - https://doi.org/10.1038/d41586-019-02015-7 DO - 10.1038/d41586-019-02015-7 ID - Pritchard2019 ER - TY - JOUR AU - Hall, J. M. AU - Lee, M. K. AU - Newman, B. AU - Morrow, J. E. AU - Anderson, L. A. AU - Huey, B. PY - 1990 DA - 1990// TI - Linkage of early-onset familial breast cancer to chromosome 17q21 JO - Science VL - 250 UR - https://doi.org/10.1126/science.2270482 DO - 10.1126/science.2270482 ID - Hall1990 ER - TY - JOUR AU - Miki, Y. AU - Swensen, J. AU - Shattuck-eidens, D. AU - Futreal, P. A. AU - Tavtigian, S. AU - Liu, Q. PY - 1994 DA - 1994// TI - A Strong Candidate for the Breast and Ovarian Cancer Susceptibility Gene BRCA1 Published by: American Association for the Advancement of Science Stable JO - Science VL - 266 UR - https://doi.org/10.1126/science.7545954 DO - 10.1126/science.7545954 ID - Miki1994 ER - TY - JOUR AU - Wooster, R. AU - Bignell, G. AU - Lancaster, J. AU - Swift, S. AU - Seal, S. AU - Mangion, J. AU - Collins, N. AU - Gregory, S. AU - Gumbs, C. AU - Micklem, G. AU - Barfoot, R. PY - 1995 DA - 1995// TI - Identification of the breast cancer susceptibility gene BRCA2 JO - Nature VL - 378 UR - https://doi.org/10.1038/378789a0 DO - 10.1038/378789a0 ID - Wooster1995 ER - TY - STD TI - Kotsopoulos J. BRCA Mutations and Breast Cancer Prevention. Cancers (Basel). 2018;9;10(12). ID - ref9 ER - TY - JOUR AU - Couch, F. J. AU - Nathanson, K. L. AU - Offit, K. PY - 2014 DA - 2014// TI - Two Decades After BRCA: Setting Paradigms in Personalized Cancer Care and Prevention JO - Science VL - 343 UR - https://doi.org/10.1126/science.1251827 DO - 10.1126/science.1251827 ID - Couch2014 ER - TY - JOUR AU - Plevritis, S. K. AU - Kurian, A. W. AU - Sigal, B. M. AU - Daniel, B. L. AU - Ikeda, D. M. AU - Stockdale, F. E. PY - 2006 DA - 2006// TI - Cost-effectiveness of Screening BRCA1/2 Mutation Carriers With Breast Magnetic Resonance Imaging Sylvia JO - JAMA VL - 295 UR - https://doi.org/10.1001/jama.295.20.2374 DO - 10.1001/jama.295.20.2374 ID - Plevritis2006 ER - TY - JOUR AU - Romero-Laorden, N. AU - Castro, E. PY - 2017 DA - 2017// TI - Inherited mutations in DNA repair genes and cancer risk JO - Curr Probl Cancer VL - 41 UR - https://doi.org/10.1016/j.currproblcancer.2017.02.009 DO - 10.1016/j.currproblcancer.2017.02.009 ID - Romero-Laorden2017 ER - TY - JOUR AU - Lynch, H. T. AU - Snyder, C. AU - Casey, M. J. PY - 2013 DA - 2013// TI - Hereditary ovarian and breast cancer: what have we learned? JO - Ann Oncol VL - 24 UR - https://doi.org/10.1093/annonc/mdt313 DO - 10.1093/annonc/mdt313 ID - Lynch2013 ER - TY - JOUR AU - Aloraifi, F. AU - Boland, M. R. AU - Green, A. J. AU - Geraghty, J. G. PY - 2015 DA - 2015// TI - Gene analysis techniques and susceptibility gene discovery in non-BRCA1/BRCA2 familial breast cancer JO - Surg Oncol VL - 24 UR - https://doi.org/10.1016/j.suronc.2015.04.003 DO - 10.1016/j.suronc.2015.04.003 ID - Aloraifi2015 ER - TY - JOUR AU - Darooei, M. AU - Poornima, S. AU - Salma, B. U. AU - Iyer, G. R. AU - Pujar, A. N. AU - Annapurna, S. PY - 2017 DA - 2017// TI - Pedigree and BRCA gene analysis in breast cancer patients to identify hereditary breast and ovarian cancer syndrome to prevent morbidity and mortality of disease in Indian population JO - Tumor Biol VL - 39 UR - https://doi.org/10.1177/1010428317694303 DO - 10.1177/1010428317694303 ID - Darooei2017 ER - TY - JOUR AU - Tedaldi, G. AU - Tebaldi, M. AU - Zampiga, V. AU - Danesi, R. AU - Arcangeli, V. AU - Ravegnani, M. PY - 2017 DA - 2017// TI - Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer JO - Oncotarget VL - 8 UR - https://doi.org/10.18632/oncotarget.16791 DO - 10.18632/oncotarget.16791 ID - Tedaldi2017 ER - TY - JOUR AU - Buys, S. S. AU - Sandbach, J. F. AU - Gammon, A. AU - Patel, G. AU - Kidd, J. AU - Brown, K. L. PY - 2017 DA - 2017// TI - A study of over 35,000 women with breast cancer tested with a 25-gene panel of hereditary cancer genes JO - Cancer VL - 123 UR - https://doi.org/10.1002/cncr.30498 DO - 10.1002/cncr.30498 ID - Buys2017 ER - TY - JOUR AU - Schroeder, C. AU - Faust, U. AU - Sturm, M. AU - Hackmann, K. AU - Grundmann, K. AU - Harmuth, F. PY - 2015 DA - 2015// TI - HBOC multi-gene panel testing: comparison of two sequencing centers JO - Breast Cancer Res Treat VL - 152 UR - https://doi.org/10.1007/s10549-015-3429-9 DO - 10.1007/s10549-015-3429-9 ID - Schroeder2015 ER - TY - JOUR AU - Lee, J. Y. AU - Kim, J. AU - Kim, S. W. AU - Park, S. K. AU - Ahn, S. H. AU - Lee, M. H. PY - 2018 DA - 2018// TI - BRCA1/2-negative, high-risk breast cancers (BRCAX) for Asian women: genetic susceptibility loci and their potential impacts JO - Sci Rep VL - 8 UR - https://doi.org/10.1038/s41598-017-17765-5 DO - 10.1038/s41598-017-17765-5 ID - Lee2018 ER - TY - JOUR AU - Hirotsu, Y. AU - Nakagomi, H. AU - Sakamoto, I. AU - Amemiya, K. AU - Oyama, T. AU - Mochizuki, H. PY - 2015 DA - 2015// TI - Multigene panel analysis identified germline mutations of DNA repair genes in breast and ovarian cancer JO - Mol Genet Genomic Med VL - 3 UR - https://doi.org/10.1002/mgg3.157 DO - 10.1002/mgg3.157 ID - Hirotsu2015 ER - TY - JOUR AU - Minion, L. E. AU - Dolinsky, J. S. AU - Chase, D. M. AU - Dunlop, C. L. AU - Chao, E. C. AU - Monk, B. J. PY - 2015 DA - 2015// TI - Hereditary predisposition to ovarian cancer, looking beyond BRCA1/BRCA2 JO - Gynecol Oncol VL - 137 UR - https://doi.org/10.1016/j.ygyno.2015.01.537 DO - 10.1016/j.ygyno.2015.01.537 ID - Minion2015 ER - TY - JOUR AU - Schubert, S. AU - Luttikhuizen, J. L. AU - Auber, B. AU - Schmidt, G. AU - Hofmann, W. AU - Penkert, J. PY - 2019 DA - 2019// TI - The identification of pathogenic variants in BRCA1/2 negative, high risk, hereditary breast and/or ovarian cancer patients: High frequency of FANCM pathogenic variants JO - Int J Cancer VL - 144 UR - https://doi.org/10.1002/ijc.31992 DO - 10.1002/ijc.31992 ID - Schubert2019 ER - TY - JOUR AU - Suszynska, M. AU - Klonowska, K. AU - Jasinska, A. J. AU - Kozlowski, P. PY - 2019 DA - 2019// TI - Large-scale meta-analysis of mutations identified in panels of breast/ovarian cancer-related genes - Providing evidence of cancer predisposition genes JO - Gynecol Oncol VL - xxxx ID - Suszynska2019 ER - TY - JOUR AU - de Souza Timoteo, A. n. a. R. a. f. a. e. l. a. AU - Gonçalves, A. n. a. É. l. i. d. a. M. e. n. e. z. e. s. M. a. g. a. l. h. ã. e. s. AU - Sales, L. u. c. a. s. A. m. a. d. e. u. s. P. o. r. p. i. n. o. AU - Albuquerque, B. e. t. i. n. a. M. e. n. e. z. e. s. AU - de Souza, J. o. r. g. e. E. s. t. e. f. a. n. o. S. a. n. t. a. n. a. AU - de Moura, P. a. t. r. í. c. i. a. C. r. i. s. t. i. n. a. P. a. s. c. o. t. o. AU - de Aquino, M. a. r. c. o. s. A. l. b. e. r. t. o. A. r. r. u. d. a. AU - Agnez-Lima, L. u. c. y. m. a. r. a. F. a. s. s. a. r. e. l. a. AU - Lajus, T. i. r. z. a. h. B. r. a. z. P. e. t. t. a. PY - 2018 DA - 2018// TI - A portrait of germline mutation in Brazilian at-risk for hereditary breast cancer JO - Breast Cancer Research and Treatment VL - 172 UR - https://doi.org/10.1007/s10549-018-4938-0 DO - 10.1007/s10549-018-4938-0 ID - de Souza Timoteo2018 ER - TY - JOUR AU - Toss, A. AU - Tomasello, C. AU - Razzaboni, E. AU - Contu, G. AU - Grandi, G. AU - Cagnacci, A. PY - 2015 DA - 2015// TI - Hereditary Ovarian Cancer: Not Only BRCA 1 and 2 Genes JO - Biomed Res Int VL - 2015 UR - https://doi.org/10.1155/2015/341723 DO - 10.1155/2015/341723 ID - Toss2015 ER - TY - JOUR AU - Torrezan, G. T. AU - Fernanda, G. AU - De, A. S. R. PY - 2018 DA - 2018// TI - Complex Landscape of Germline Variants in Brazilian Patients With Hereditary and Early Onset Breast Cancer JO - Front Genet VL - 9 UR - https://doi.org/10.3389/fgene.2018.00161 DO - 10.3389/fgene.2018.00161 ID - Torrezan2018 ER - TY - JOUR AU - Fernandes, G. C. AU - Michelli, R. A. D. AU - Galvão, H. C. R. AU - Paula, A. E. AU - Pereira, R. AU - Andrade, C. E. PY - 2016 DA - 2016// TI - Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry JO - Oncotarget VL - 7 ID - Fernandes2016 ER - TY - JOUR AU - Cipriano, N. M. AU - Brito, A. M. AU - Oliveira, E. S. AU - Faria, F. C. AU - Lemos, S. AU - Rodrigues, A. N. PY - 2019 DA - 2019// TI - Mutation screening of TP53, CHEK2 and BRCA genes in patients at high risk for hereditary breast and ovarian cancer (HBOC) in Brazil JO - Breast Cancer VL - 26 UR - https://doi.org/10.1007/s12282-018-00938-z DO - 10.1007/s12282-018-00938-z ID - Cipriano2019 ER - TY - JOUR AU - Palmero, E. I. AU - Alemar, B. AU - Schüler-Faccini, L. AU - Hainaut, P. AU - Moreira-Filho, C. A. AU - Ewald, I. P. PY - 2016 DA - 2016// TI - Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil JO - Genet Mol Biol VL - 39 UR - https://doi.org/10.1590/1678-4685-gmb-2014-0363 DO - 10.1590/1678-4685-gmb-2014-0363 ID - Palmero2016 ER - TY - JOUR AU - Cury, N. M. AU - Ferraz, V. E. F. AU - Silva, W. A. PY - 2014 DA - 2014// TI - TP53 p.R337H prevalence in a series of Brazilian hereditary breast cancer families JO - Hered Cancer Clin Pract VL - 12 UR - https://doi.org/10.1186/1897-4287-12-8 DO - 10.1186/1897-4287-12-8 ID - Cury2014 ER - TY - JOUR AU - Yi, M. AU - Huo, L. AU - Koenig, K. B. AU - Mittendorf, E. A. AU - Meric-Bernstam, F. AU - Kuerer, H. M. PY - 2014 DA - 2014// TI - Which threshold for ER positivity? a retrospective study based on 9639 patients JO - Ann Oncol VL - 25 UR - https://doi.org/10.1093/annonc/mdu053 DO - 10.1093/annonc/mdu053 ID - Yi2014 ER - TY - JOUR AU - Skidmore, Z. L. AU - Wagner, A. H. AU - Lesurf, R. AU - Campbell, K. M. AU - Kunisaki, J. AU - Griffith, O. L. PY - 2016 DA - 2016// TI - GenVisR: Genomic Visualizations in R JO - Bioinformatics VL - 32 UR - https://doi.org/10.1093/bioinformatics/btw325 DO - 10.1093/bioinformatics/btw325 ID - Skidmore2016 ER - TY - JOUR AU - Gu, Z. AU - Eils, R. AU - Schlesner, M. PY - 2016 DA - 2016// TI - Complex heatmaps reveal patterns and correlations in multidimensional genomic data JO - Bioinformatics VL - 32 UR - https://doi.org/10.1093/bioinformatics/btw313 DO - 10.1093/bioinformatics/btw313 ID - Gu2016 ER - TY - JOUR AU - Richards, S. AU - Aziz, N. AU - Bale, S. AU - Bick, D. AU - Das, S. AU - Gastier-Foster, J. PY - 2015 DA - 2015// TI - Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology JO - Genet Med VL - 17 UR - https://doi.org/10.1038/gim.2015.30 DO - 10.1038/gim.2015.30 ID - Richards2015 ER - TY - JOUR AU - Kopanos, C. AU - Tsiolkas, V. AU - Kouris, A. AU - Chapple, C. E. AU - Albarca Aguilera, M. AU - Meyer, R. PY - 2019 DA - 2019// TI - VarSome: the human genomic variant search engine JO - Bioinformatics VL - 35 UR - https://doi.org/10.1093/bioinformatics/bty897 DO - 10.1093/bioinformatics/bty897 ID - Kopanos2019 ER - TY - JOUR AU - Kircher, M. AU - Witten, D. M. AU - Jain, P. AU - O’Roak, B. J. AU - Cooper, G. M. AU - Shendure, J. PY - 2014 DA - 2014// TI - A general framework for estimating the relative pathogenicity of human genetic variants JO - Nat Genet VL - 46 UR - https://doi.org/10.1038/ng.2892 DO - 10.1038/ng.2892 ID - Kircher2014 ER - TY - JOUR AU - Tavtigian, S. V. AU - Byrnes, G. B. AU - Goldgar, D. E. AU - Thomas, A. PY - 2008 DA - 2008// TI - Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications JO - Hum Mutat VL - 29 UR - https://doi.org/10.1002/humu.20896 DO - 10.1002/humu.20896 ID - Tavtigian2008 ER - TY - JOUR AU - Frédéric, M. Y. AU - Lalande, M. AU - Boileau, C. AU - Hamroun, D. AU - Claustres, M. AU - Béroud, C. PY - 2009 DA - 2009// TI - UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity - Application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2 JO - Hum Mutat VL - 30 UR - https://doi.org/10.1002/humu.20970 DO - 10.1002/humu.20970 ID - Frédéric2009 ER - TY - JOUR AU - Ng, P. C. AU - Henikoff, S. PY - 2003 DA - 2003// TI - SIFT: Predicting amino acid changes that affect protein function JO - Nucleic Acids Res VL - 31 UR - https://doi.org/10.1093/nar/gkg509 DO - 10.1093/nar/gkg509 ID - Ng2003 ER - TY - STD TI - Adzhubei I, Schmidt S, Peshkin L, Ramensky V, Gerasimova A, Bork P, et al. PolyPhen-2: prediction of functional effects of human nsSNPs. Nat Methods. 2010. Curr Protoc Hum Genet. 2013;07: Unit7.20. ID - ref40 ER - TY - JOUR AU - Schwarz, J. M. AU - Cooper, D. N. AU - Schuelke, M. AU - Seelow, D. PY - 2014 DA - 2014// TI - MutationTaster2: mutation prediction for the deep-sequencing age JO - Nat Methods VL - 11 UR - https://doi.org/10.1038/nmeth.2890 DO - 10.1038/nmeth.2890 ID - Schwarz2014 ER - TY - JOUR AU - Naslavsky, M. S. AU - Yamamoto, G. L. AU - Almeida, T. F. AU - SAM, E. AU - Sunaga, D. Y. AU - Pho, N. PY - 2017 DA - 2017// TI - Exomic variants of an elderly cohort of Brazilians in the ABraOM database JO - Hum Mutat VL - 38 UR - https://doi.org/10.1002/humu.23220 DO - 10.1002/humu.23220 ID - Naslavsky2017 ER - TY - JOUR AU - Auton, A. AU - Brooks, L. D. AU - Durbin, R. M. AU - Garrison, E. P. AU - Kang, H. M. PY - 2015 DA - 2015// TI - A global reference for human genetic variation JO - Nature VL - 526 UR - https://doi.org/10.1038/nature15393 DO - 10.1038/nature15393 ID - Auton2015 ER - TY - BOOK PY - 2016 DA - 2016// TI - ExAC Browser. Online ID - ref44 ER - TY - JOUR AU - Fox, J. PY - 2015 DA - 2015// TI - The R Commander: A Basic-Statistics Graphical User Interface to R JO - J Stat Softw VL - 14 ID - Fox2015 ER - TY - JOUR AU - Karppinen, S. M. AU - Heikkinen, K. AU - Rapakko, K. AU - Winqvist, R. PY - 2004 DA - 2004// TI - Mutation screening of the BARD1 gene: evidence for involvement of the Cys557Ser allele in hereditary susceptibility to breast cancer JO - J Med Genet VL - 41 UR - https://doi.org/10.1136/jmg.2004.020669 DO - 10.1136/jmg.2004.020669 ID - Karppinen2004 ER - TY - JOUR AU - Cai, Z. AU - Chehab, N. H. AU - Pavletich, N. P. PY - 2009 DA - 2009// TI - Structure and Activation Mechanism of the CHK2 DNA Damage Checkpoint Kinase JO - Mol Cell VL - 35 UR - https://doi.org/10.1016/j.molcel.2009.09.007 DO - 10.1016/j.molcel.2009.09.007 ID - Cai2009 ER - TY - JOUR AU - Ducy, M. AU - Sesma-Sanz, L. AU - Guitton-Sert, L. AU - Lashgari, A. AU - Gao, Y. AU - Brahiti, N. PY - 2019 DA - 2019// TI - The Tumor Suppressor PALB2: Inside Out JO - Trends Biochem Sci VL - 44 UR - https://doi.org/10.1016/j.tibs.2018.10.008 DO - 10.1016/j.tibs.2018.10.008 ID - Ducy2019 ER - TY - CHAP AU - Borras, E. AU - Chang, K. AU - Pande, M. AU - Cuddy, A. AU - Bosch, J. L. AU - Bannon, S. A. PY - 2017 DA - 2017// TI - In silico systems biology analysis of variants of uncertain significance in lynch syndrome supports the prioritization of functional molecular validation BT - Cancer Prevention Research ID - Borras2017 ER - TY - JOUR AU - Groep, P. AU - Wall, E. AU - Diest, P. J. PY - 2011 DA - 2011// TI - Pathology of hereditary breast cancer JO - Cell Oncol VL - 34 UR - https://doi.org/10.1007/s13402-011-0010-3 DO - 10.1007/s13402-011-0010-3 ID - Groep2011 ER - TY - JOUR AU - Mauro, C. C. AU - Jbili, R. AU - Carraro, D. M. AU - Queiroz Soares, D. C. AU - AABA, C. AU - Brot, L. PY - 2019 DA - 2019// TI - Prevalence of BRCA1 and BRCA2 pathogenic and likely pathogenic variants in non-selected ovarian carcinoma patients in Brazil JO - BMC Cancer VL - 19 UR - https://doi.org/10.1186/s12885-018-5219-3 DO - 10.1186/s12885-018-5219-3 ID - Mauro2019 ER - TY - JOUR AU - Maistro, S. AU - Teixeira, N. AU - Encinas, G. AU - Katayama, M. L. H. AU - Niewiadonski, V. D. T. AU - Cabral, L. G. PY - 2016 DA - 2016// TI - Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil JO - BMC Cancer VL - 16 UR - https://doi.org/10.1186/s12885-016-2966-x DO - 10.1186/s12885-016-2966-x ID - Maistro2016 ER - TY - JOUR AU - Hamel, N. AU - Feng, B. J. AU - Foretova, L. AU - Stoppa-Lyonnet, D. AU - Narod, S. A. AU - Imyanitov, E. PY - 2011 DA - 2011// TI - On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations JO - Eur J Hum Genet VL - 19 UR - https://doi.org/10.1038/ejhg.2010.203 DO - 10.1038/ejhg.2010.203 ID - Hamel2011 ER - TY - JOUR AU - Pena, S. D. J. AU - Pietro, G. AU - Fuchshuber-Moraes, M. AU - Genro, J. P. AU - Hutz, M. H. AU - SG, K. F. PY - 2011 DA - 2011// TI - The genomic ancestry of individuals from different geographical regions of Brazil is more uniform than expected JO - PLoS One VL - 6 UR - https://doi.org/10.1371/journal.pone.0017063 DO - 10.1371/journal.pone.0017063 ID - Pena2011 ER - TY - JOUR AU - Felicio, P. S. AU - Alemar, B. AU - Coelho, A. S. AU - Berardinelli, G. N. AU - Melendez, M. E. AU - Lengert, A. V. H. PY - 2018 DA - 2018// TI - Screening and characterization of BRCA2 c.156_157insAlu in Brazil: Results from 1380 individuals from the South and Southeast JO - Cancer Genet VL - 228–229 UR - https://doi.org/10.1016/j.cancergen.2018.09.001 DO - 10.1016/j.cancergen.2018.09.001 ID - Felicio2018 ER - TY - JOUR AU - Macedo, G. a. b. r. i. e. l. S. AU - Alemar, B. a. r. b. a. r. a. AU - Ashton-Prolla, P. a. t. r. i. c. i. a. PY - 2019 DA - 2019// TI - Reviewing the characteristics of BRCA and PALB2-related cancers in the precision medicine era JO - Genetics and Molecular Biology VL - 42 UR - https://doi.org/10.1590/1678-4685-gmb-2018-0104 DO - 10.1590/1678-4685-gmb-2018-0104 ID - Macedo2019 ER - TY - JOUR AU - Teugels, E. AU - Brakeleer, S. AU - Goelen, G. AU - Lissens, W. AU - Sermijn, E. AU - Grève, J. PY - 2005 DA - 2005// TI - De novo Alu element insertions targeted to a sequence common to the BRCA1 and BRCA2 genes JO - Hum Mutat VL - 26 UR - https://doi.org/10.1002/humu.9366 DO - 10.1002/humu.9366 ID - Teugels2005 ER - TY - JOUR AU - Hahn, E. C. AU - Bittar, C. M. AU - FSL, V. AU - CBO, N. AU - Biazús, J. V. AU - Cericatto, R. PY - 2018 DA - 2018// TI - TP53 p.Arg337His germline mutation prevalence in Southern Brazil: Further evidence for mutation testing in young breast cancer patients JO - PLoS One VL - 13 UR - https://doi.org/10.1371/journal.pone.0209934 DO - 10.1371/journal.pone.0209934 ID - Hahn2018 ER - TY - JOUR AU - Park, J. -. H. AU - Wang, P. -. Y. AU - Hwang, P. M. PY - 2019 DA - 2019// TI - Modeling the prevalent germline TP53 R337H mutation in mouse JO - Oncotarget VL - 10 UR - https://doi.org/10.18632/oncotarget.26603 DO - 10.18632/oncotarget.26603 ID - Park2019 ER - TY - JOUR AU - Park, J. -. H. AU - Li, J. AU - Starost, M. F. AU - Liu, C. AU - Zhuang, J. AU - Chen, J. PY - 2018 DA - 2018// TI - Mouse Homolog of the Human TP53 R337H Mutation Reveals Its Role in Tumorigenesis JO - Cancer Res VL - 78 UR - https://doi.org/10.1158/0008-5472.CAN-18-0016 DO - 10.1158/0008-5472.CAN-18-0016 ID - Park2018 ER - TY - JOUR AU - Bodian, D. L. AU - McCutcheon, J. N. AU - Kothiyal, P. AU - Huddleston, K. C. AU - Iyer, R. K. AU - Vockley, J. G. PY - 2014 DA - 2014// TI - Germline Variation in Cancer-Susceptibility Genes in a Healthy, Ancestrally Diverse Cohort: Implications for Individual Genome Sequencing JO - PLoS One VL - 9 UR - https://doi.org/10.1371/journal.pone.0094554 DO - 10.1371/journal.pone.0094554 ID - Bodian2014 ER - TY - STD TI - 1000 Genomes Project Consortium, Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA. An integrated map of genetic variation from 1,092 human genomes. Nature. 2012;1;491(7422):56–65. https://doi.org/10.1038/nature11632. ID - ref62 ER - TY - JOUR AU - Her, J. AU - Soo Lee, N. AU - Kim, Y. AU - Kim, H. PY - 2016 DA - 2016// TI - Factors forming the BRCA1-A complex orchestrate BRCA1 recruitment to the sites of DNA damage JO - Acta Biochim Biophys Sin (Shanghai) VL - 48 UR - https://doi.org/10.1093/abbs/gmw047 DO - 10.1093/abbs/gmw047 ID - Her2016 ER - TY - JOUR AU - Renault, A. -. L. AU - Lesueur, F. AU - Coulombe, Y. AU - Gobeil, S. AU - Soucy, P. AU - Hamdi, Y. PY - 2016 DA - 2016// TI - ABRAXAS (FAM175A) and Breast Cancer Susceptibility: No Evidence of Association in the Breast Cancer Family Registry JO - PLoS One VL - 11 UR - https://doi.org/10.1371/journal.pone.0156820 DO - 10.1371/journal.pone.0156820 ID - Renault2016 ER - TY - JOUR AU - Castillo, A. AU - Paul, A. AU - Sun, B. AU - Huang, T. H. AU - Wang, Y. AU - Yazinski, S. A. PY - 2014 DA - 2014// TI - The BRCA1-interacting protein Abraxas is required for genomic stability and tumor suppression JO - Cell Rep VL - 8 UR - https://doi.org/10.1016/j.celrep.2014.06.050 DO - 10.1016/j.celrep.2014.06.050 ID - Castillo2014 ER - TY - JOUR AU - Kim, H. AU - Chen, J. AU - Yu, X. PY - 2007 DA - 2007// TI - Ubiquitin-binding protein RAP80 mediates BRCA1-dependent DNA damage response JO - Science (80- ) VL - 316 UR - https://doi.org/10.1126/science.1139621 DO - 10.1126/science.1139621 ID - Kim2007 ER - TY - JOUR AU - Li, Y. AU - Luo, K. AU - Yin, Y. AU - Wu, C. AU - Deng, M. AU - Li, L. PY - 2017 DA - 2017// TI - USP13 regulates the RAP80-BRCA1 complex dependent DNA damage response JO - Nat Commun VL - 8 UR - https://doi.org/10.1038/ncomms15752 DO - 10.1038/ncomms15752 ID - Li2017 ER - TY - JOUR AU - Jin, B. AU - Jiang, F. AU - Liu, W. AU - Chen, N. AU - Ding, Z. PY - 2011 DA - 2011// TI - Are polymorphisms of the ataxia telangiectasia mutated gene associated with breast cancer risk? JO - Breast Cancer Res Treat VL - 128 UR - https://doi.org/10.1007/s10549-011-1385-6 DO - 10.1007/s10549-011-1385-6 ID - Jin2011 ER - TY - JOUR AU - Espenschied, C. R. AU - Laduca, H. AU - Li, S. AU - Mcfarland, R. AU - Gau, C. -. L. AU - Hampel, H. PY - 2017 DA - 2017// TI - Multigene Panel Testing Provides a New Perspective on Lynch Syndrome JO - J Clin Oncol VL - 35 UR - https://doi.org/10.1200/JCO.2016.71.9260 DO - 10.1200/JCO.2016.71.9260 ID - Espenschied2017 ER - TY - JOUR AU - Castéra, L. AU - Krieger, S. AU - Rousselin, A. AU - Legros, A. AU - Baumann, J. -. J. AU - Bruet, O. PY - 2013 DA - 2013// TI - Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes JO - Eur J Hum Genet VL - 2014 UR - https://doi.org/10.1038/ejhg.2014.16 DO - 10.1038/ejhg.2014.16 ID - Castéra2013 ER - TY - JOUR AU - Kapoor, N. S. AU - Curcio, L. D. AU - Blakemore, C. A. AU - Bremner, A. K. AU - McFarland, R. E. AU - West, J. G. PY - 2015 DA - 2015// TI - 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 JO - Ann Surg Oncol VL - 22 UR - https://doi.org/10.1245/s10434-015-4754-2 DO - 10.1245/s10434-015-4754-2 ID - Kapoor2015 ER - TY - JOUR AU - Bonache, S. AU - Esteban, I. AU - Moles-Fernández, A. AU - Tenés, A. AU - Duran-Lozano, L. AU - Montalban, G. PY - 2018 DA - 2018// TI - Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings JO - J Cancer Res Clin Oncol VL - 144 UR - https://doi.org/10.1007/s00432-018-2763-9 DO - 10.1007/s00432-018-2763-9 ID - Bonache2018 ER - TY - JOUR AU - Rashid, M. U. AU - Naeemi, H. AU - Muhammad, N. AU - Loya, A. AU - Yusuf, M. A. AU - Lubiński, J. PY - 2016 DA - 2016// TI - A novel deleterious c.2656G>T MSH2 germline mutation in a Pakistani family with a phenotypic overlap of hereditary breast and ovarian cancer and Lynch syndrome JO - Hered Cancer Clin Pract VL - 14 UR - https://doi.org/10.1186/s13053-016-0056-3 DO - 10.1186/s13053-016-0056-3 ID - Rashid2016 ER - TY - JOUR AU - Mateus, A. R. AU - Simões-Correia, J. AU - Figueiredo, J. AU - Heindl, S. AU - Alves, C. C. AU - Suriano, G. PY - 2009 DA - 2009// TI - E-cadherin mutations and cell motility: a genotype-phenotype correlation JO - Exp Cell Res VL - 315 UR - https://doi.org/10.1016/j.yexcr.2009.02.020 DO - 10.1016/j.yexcr.2009.02.020 ID - Mateus2009 ER - TY - JOUR AU - Lajus, T. B. P. AU - Sales, R. M. D. PY - 2015 DA - 2015// TI - CDH1 germ-line missense mutation identified by multigene sequencing in a family with no history of diffuse gastric cancer JO - Gene VL - 568 UR - https://doi.org/10.1016/j.gene.2015.05.035 DO - 10.1016/j.gene.2015.05.035 ID - Lajus2015 ER - TY - JOUR AU - Suriano, G. PY - 2003 DA - 2003// TI - E-cadherin germline missense mutations and cell phenotype: evidence for the independence of cell invasion on the motile capabilities of the cells JO - Hum Mol Genet VL - 12 UR - https://doi.org/10.1093/hmg/ddg316 DO - 10.1093/hmg/ddg316 ID - Suriano2003 ER - TY - JOUR AU - Adamovich, A. I. AU - Tapahsama, B. AU - Wingo, M. AU - Kathryn, D. AU - Jie, N. AU - Fernanda Martins, R. PY - 2019 DA - 2019// TI - Functional analysis of BARD1 missense variants in homology-directed repair and damage sensitivity JO - PLOS Genet VL - 15 UR - https://doi.org/10.1371/journal.pgen.1008049 DO - 10.1371/journal.pgen.1008049 ID - Adamovich2019 ER - TY - JOUR AU - Quezada Urban, R. AU - Díaz Velásquez, C. AU - Gitler, R. AU - Rojo Castillo, M. AU - Sirota Toporek, M. AU - Figueroa Morales, A. PY - 2018 DA - 2018// TI - Comprehensive Analysis of Germline Variants in Mexican Patients with Hereditary Breast and Ovarian Cancer Susceptibility JO - Cancers (Basel) VL - 10 UR - https://doi.org/10.3390/cancers10100361 DO - 10.3390/cancers10100361 ID - Quezada Urban2018 ER - TY - JOUR AU - Weber-Lassalle, N. AU - Borde, J. AU - Weber-Lassalle, K. AU - Klaschik, K. AU - Neidhardt, G. AU - Ernst, C. PY - 2018 DA - 2018// TI - Germline loss-of-function variants in the BARD1 gene are associated with familial breast cancer JO - Inf und Program VL - 15 ID - Weber-Lassalle2018 ER - TY - JOUR AU - Tung, N. AU - Lin, N. U. AU - Kidd, J. AU - Allen, B. A. AU - Singh, N. AU - Wenstrup, R. J. PY - 2016 DA - 2016// TI - Frequency of germline mutations in 25 cancer susceptibility genes in a sequential series of patients with breast cancer JO - J Clin Oncol VL - 34 UR - https://doi.org/10.1200/JCO.2015.65.0747 DO - 10.1200/JCO.2015.65.0747 ID - Tung2016 ER - TY - JOUR AU - Cimmino, F. AU - Formicola, D. AU - Capasso, M. PY - 2017 DA - 2017// TI - Dualistic Role of BARD1 in Cancer JO - Genes (Basel) VL - 8 UR - https://doi.org/10.3390/genes8120375 DO - 10.3390/genes8120375 ID - Cimmino2017 ER - TY - JOUR AU - Feki, A. AU - Jefford, C. E. AU - Berardi, P. AU - Wu, J. Y. AU - Cartier, L. AU - Krause, K. H. PY - 2005 DA - 2005// TI - BARD1 induces apoptosis by catalysing phosphorylation of p53 by DNA-damage response kinase JO - Oncogene VL - 24 UR - https://doi.org/10.1038/sj.onc.1208491 DO - 10.1038/sj.onc.1208491 ID - Feki2005 ER - TY - JOUR AU - Maier, C. AU - Herkommer, K. AU - Luedeke, M. AU - Rinckleb, A. AU - Schrader, M. AU - Vogel, W. PY - 2014 DA - 2014// TI - Subgroups of familial and aggressive prostate cancer with considerable frequencies of BRCA2 mutations JO - Prostate VL - 74 UR - https://doi.org/10.1002/pros.22860 DO - 10.1002/pros.22860 ID - Maier2014 ER - TY - JOUR AU - Yang, H. AU - Jeffrey, P. D. AU - Miller, J. AU - Kinnucan, E. AU - Sun, Y. AU - Thoma, N. H. PY - 2002 DA - 2002// TI - BRCA2 function in DNA binding and recombination from a BRCA1-DSS1-ssDNA structure JO - Science (80- ) VL - 297 UR - https://doi.org/10.1126/science.297.5588.1837 DO - 10.1126/science.297.5588.1837 ID - Yang2002 ER - TY - JOUR AU - Nicolai, C. AU - Ehlén, Å. AU - Martin, C. AU - Zhang, X. AU - Carreira, A. PY - 2016 DA - 2016// TI - A second DNA binding site in human BRCA2 promotes homologous recombination JO - Nat Commun VL - 7 UR - https://doi.org/10.1038/ncomms12813 DO - 10.1038/ncomms12813 ID - Nicolai2016 ER - TY - JOUR AU - Craig, A. L. AU - Hupp, T. R. PY - 2004 DA - 2004// TI - The regulation of CHK2 in human cancer JO - Oncogene VL - 23 UR - https://doi.org/10.1038/sj.onc.1208035 DO - 10.1038/sj.onc.1208035 ID - Craig2004 ER - TY - JOUR AU - Zannini, L. AU - Delia, D. AU - Buscemi, G. PY - 2014 DA - 2014// TI - CHK2 kinase in the DNA damage response and beyond JO - J Mol Cell Biol VL - 6 UR - https://doi.org/10.1093/jmcb/mju045 DO - 10.1093/jmcb/mju045 ID - Zannini2014 ER - TY - JOUR AU - Bell, D. W. AU - Kim, S. H. AU - Godwin, A. K. AU - Schiripo, T. A. AU - Harris, P. L. AU - Haserlat, S. M. PY - 2007 DA - 2007// TI - Genetic and functional analysis of CHEK2 (CHK2) variants in multiethnic cohorts JO - Int J Cancer VL - 121 UR - https://doi.org/10.1002/ijc.23026 DO - 10.1002/ijc.23026 ID - Bell2007 ER - TY - JOUR AU - Desrichard, A. AU - Bidet, Y. AU - Uhrhammer, N. AU - Bignon, Y. J. PY - 2011 DA - 2011// TI - CHEK2 contribution to hereditary breast cancer in non-BRCA families JO - Breast Cancer Res VL - 13 UR - https://doi.org/10.1186/bcr3062 DO - 10.1186/bcr3062 ID - Desrichard2011 ER - TY - JOUR AU - Sodha, N. AU - Mantoni, T. S. AU - Tavtigian, S. V. AU - Eeles, R. AU - Garrett, M. D. PY - 2006 DA - 2006// TI - Rare germ line CHEK2 variants identified in breast cancer families encode proteins that show impaired activation JO - Cancer Res VL - 66 UR - https://doi.org/10.1158/0008-5472.CAN-06-1990 DO - 10.1158/0008-5472.CAN-06-1990 ID - Sodha2006 ER - TY - JOUR AU - Roeb, W. AU - Higgins, J. AU - King, M. C. PY - 2012 DA - 2012// TI - Response to DNA damage of CHEK2 missense mutations in familial breast cancer JO - Hum Mol Genet VL - 21 UR - https://doi.org/10.1093/hmg/dds101 DO - 10.1093/hmg/dds101 ID - Roeb2012 ER - TY - JOUR AU - Wu, Q. AU - Paul, A. AU - Su, D. AU - Mehmood, S. AU - Foo, T. K. AU - Ochi, T. PY - 2016 DA - 2016// TI - Structure of BRCA1-BRCT/Abraxas Complex Reveals Phosphorylation-Dependent BRCT Dimerization at DNA Damage Sites JO - Mol Cell VL - 61 UR - https://doi.org/10.1016/j.molcel.2015.12.017 DO - 10.1016/j.molcel.2015.12.017 ID - Wu2016 ER - TY - JOUR AU - Wang, B. AU - Hurov, K. AU - Hofmann, K. AU - Elledge, S. J. PY - 2009 DA - 2009// TI - NBA1, a new player in the Brcal A complex, is required for DNA damage resistance and checkpoint control JO - Genes Dev VL - 23 UR - https://doi.org/10.1101/gad.1770309 DO - 10.1101/gad.1770309 ID - Wang2009 ER - TY - JOUR AU - Nepomuceno, T. AU - Gregoriis, G. AU - Oliveira, F. M. B. AU - Suarez-Kurtz, G. AU - Monteiro, A. AU - Carvalho, M. PY - 2017 DA - 2017// TI - The Role of PALB2 in the DNA Damage Response and Cancer Predisposition JO - Int J Mol Sci VL - 18 UR - https://doi.org/10.3390/ijms18091886 DO - 10.3390/ijms18091886 ID - Nepomuceno2017 ER - TY - JOUR AU - Foo, T. K. AU - Tischkowitz, M. AU - Simhadri, S. AU - Boshari, T. AU - Zayed, N. AU - Burke, K. A. PY - 2017 DA - 2017// TI - Compromised BRCA1-PALB2 interaction is associated with breast cancer risk JO - Oncogene VL - 36 UR - https://doi.org/10.1038/onc.2017.46 DO - 10.1038/onc.2017.46 ID - Foo2017 ER - TY - JOUR AU - Arora, S. a. n. j. e. e. v. a. n. i. AU - Huwe, P. e. t. e. r. J. AU - Sikder, R. a. h. m. a. t. AU - Shah, M. a. n. a. l. i. AU - Browne, A. m. a. n. d. a. J. AU - Lesh, R. a. n. d. y. AU - Nicolas, E. m. m. a. n. u. e. l. l. e. AU - Deshpande, S. a. n. a. t. AU - Hall, M. i. c. h. a. e. l. J. AU - Dunbrack, R. o. l. a. n. d. L. AU - Golemis, E. r. i. c. a. A. PY - 2017 DA - 2017// TI - Functional analysis of rare variants in mismatch repair proteins augments results from computation-based predictive methods JO - Cancer Biology & Therapy VL - 18 UR - https://doi.org/10.1080/15384047.2017.1326439 DO - 10.1080/15384047.2017.1326439 ID - Arora2017 ER - TY - JOUR AU - Rodrigue, A. m. é. l. i. e. AU - Margaillan, G. u. i. l. l. a. u. m. e. AU - Torres Gomes, T. h. i. a. g. o. AU - Coulombe, Y. a. n. AU - Montalban, G. e. m. m. a. AU - da Costa e Silva Carvalho, S. i. m. o. n. e. AU - Milano, L. a. r. i. s. s. a. AU - Ducy, M. a. n. d. y. AU - De-Gregoriis, G. i. u. l. i. a. n. a. AU - Dellaire, G. r. a. h. a. m. AU - Araújo da Silva Jr, W. i. l. s. o. n. AU - Monteiro, A. l. v. a. r. o. N. AU - Carvalho, M. a. r. c. e. l. o. A. AU - Simard, J. a. c. q. u. e. s. AU - Masson, J. e. a. n. -. Y. v. e. s. PY - 2019 DA - 2019// TI - A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor JO - Nucleic Acids Research VL - 47 UR - https://doi.org/10.1093/nar/gkz780 DO - 10.1093/nar/gkz780 ID - Rodrigue2019 ER - TY - JOUR AU - de Barros, A. n. d. r. e. a. C. AU - Takeda, A. g. n. e. s. A. S. AU - Dreyer, T. h. i. a. g. o. R. AU - Velazquez-Campoy, A. d. r. i. a. n. AU - Kobe, B. o. š. t. j. a. n. AU - Fontes, M. a. r. c. o. s. R. M. PY - 2018 DA - 2018// TI - DNA mismatch repair proteins MLH1 and PMS2 can be imported to the nucleus by a classical nuclear import pathway JO - Biochimie VL - 146 UR - https://doi.org/10.1016/j.biochi.2017.11.013 DO - 10.1016/j.biochi.2017.11.013 ID - de Barros2018 ER - TY - JOUR AU - González-Acosta, M. a. r. i. b. e. l. AU - del Valle, J. e. s. ú. s. AU - Navarro, M. a. t. i. l. d. e. AU - Thompson, B. r. y. o. n. y. A. AU - Iglesias, S. í. l. v. i. a. AU - Sanjuan, X. a. v. i. e. r. AU - Paúles, M. a. r. í. a. J. o. s. é. AU - Padilla, N. a. t. à. l. i. a. AU - Fernández, A. n. n. a. AU - Cuesta, R. a. q. u. e. l. AU - Teulé, À. l. e. x. AU - Plotz, G. u. i. d. o. AU - Cadiñanos, J. u. a. n. AU - de la Cruz, X. a. v. i. e. r. AU - Balaguer, F. r. a. n. c. e. s. c. AU - Lázaro, C. o. n. x. i. AU - Pineda, M. a. r. t. a. AU - Capellá, G. a. b. r. i. e. l. PY - 2017 DA - 2017// TI - Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria JO - Familial Cancer VL - 16 UR - https://doi.org/10.1007/s10689-017-9981-1 DO - 10.1007/s10689-017-9981-1 ID - González-Acosta2017 ER -