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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1972 1
1976 5
1977 6
1978 4
1979 8
1980 5
1981 14
1982 13
1983 21
1984 16
1985 22
1986 27
1987 28
1988 41
1989 48
1990 58
1991 70
1992 77
1993 79
1994 79
1995 86
1996 100
1997 79
1998 115
1999 101
2000 105
2001 129
2002 103
2003 152
2004 164
2005 178
2006 206
2007 227
2008 246
2009 274
2010 321
2011 336
2012 378
2013 422
2014 531
2015 637
2016 717
2017 804
2018 942
2019 1091
2020 1232
2021 1300
2022 1169
2023 1126
2024 489

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12,786 results

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Page 1
Genetics of Azoospermia.
Cioppi F, Rosta V, Krausz C. Cioppi F, et al. Int J Mol Sci. 2021 Mar 23;22(6):3264. doi: 10.3390/ijms22063264. Int J Mol Sci. 2021. PMID: 33806855 Free PMC article. Review.
Whole-Exome Sequencing allowed the discovery of an increasing number of monogenic defects of NOA with a current list of 38 candidate genes. These genes are of potential clinical relevance for future gene panel-based screening. We classified these ge …
Whole-Exome Sequencing allowed the discovery of an increasing number of monogenic defects of NOA with a current list of 38 candidate gene …
Breast cancer genes: beyond BRCA1 and BRCA2.
Filippini SE, Vega A. Filippini SE, et al. Front Biosci (Landmark Ed). 2013 Jun 1;18(4):1358-72. doi: 10.2741/4185. Front Biosci (Landmark Ed). 2013. PMID: 23747889 Free article. Review.
Familial breast cancer (about 30 percent of patients), often seen in families with a high incidence of BC, has been associated with a number of high-, moderate-, and low-penetrance susceptibility genes. Family linkage studies have identified high-penetrance genes, B …
Familial breast cancer (about 30 percent of patients), often seen in families with a high incidence of BC, has been associated with a number …
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
Susswein LR, Marshall ML, Nusbaum R, Vogel Postula KJ, Weissman SM, Yackowski L, Vaccari EM, Bissonnette J, Booker JK, Cremona ML, Gibellini F, Murphy PD, Pineda-Alvarez DE, Pollevick GD, Xu Z, Richard G, Bale S, Klein RT, Hruska KS, Chung WK. Susswein LR, et al. Genet Med. 2016 Aug;18(8):823-32. doi: 10.1038/gim.2015.166. Epub 2015 Dec 17. Genet Med. 2016. PMID: 26681312 Free PMC article.
PURPOSE: Germ-line testing for panels of cancer genes using next-generation sequencing is becoming more common in clinical care. ...METHODS: Clinical genetic testing was performed on over 10,000 consecutive cases referred for evaluation of germ-line ca …
PURPOSE: Germ-line testing for panels of cancer genes using next-generation sequencing is becoming more common in clini …
Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.
Tsaousis GN, Papadopoulou E, Apessos A, Agiannitopoulos K, Pepe G, Kampouri S, Diamantopoulos N, Floros T, Iosifidou R, Katopodi O, Koumarianou A, Markopoulos C, Papazisis K, Venizelos V, Xanthakis I, Xepapadakis G, Banu E, Eniu DT, Negru S, Stanculeanu DL, Ungureanu A, Ozmen V, Tansan S, Tekinel M, Yalcin S, Nasioulas G. Tsaousis GN, et al. BMC Cancer. 2019 Jun 3;19(1):535. doi: 10.1186/s12885-019-5756-4. BMC Cancer. 2019. PMID: 31159747 Free PMC article.
The purpose of this study was to investigate the extent and nature of variants in genes implicated in hereditary cancer predisposition in individuals referred for testing in our laboratory. ...Notably, 25 of the 264 positive individuals (9.5%) carried clinically sig …
The purpose of this study was to investigate the extent and nature of variants in genes implicated in hereditary cancer predispositio …
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.
Kelly MA, Caleshu C, Morales A, Buchan J, Wolf Z, Harrison SM, Cook S, Dillon MW, Garcia J, Haverfield E, Jongbloed JDH, Macaya D, Manrai A, Orland K, Richard G, Spoonamore K, Thomas M, Thomson K, Vincent LM, Walsh R, Watkins H, Whiffin N, Ingles J, van Tintelen JP, Semsarian C, Ware JS, Hershberger R, Funke B. Kelly MA, et al. Genet Med. 2018 Mar;20(3):351-359. doi: 10.1038/gim.2017.218. Epub 2018 Jan 4. Genet Med. 2018. PMID: 29300372 Free PMC article.
PurposeIntegrating genomic sequencing in clinical care requires standardization of variant interpretation practices. The Clinical Genome Resource has established expert panels to adapt the American College of Medical Genetics and Genomics/Association for Molecular Patholog …
PurposeIntegrating genomic sequencing in clinical care requires standardization of variant interpretation practices. The Clinical Genome Res …
[Next Generation Sequencing (NGS) for beginners].
Georget M, Pisan E. Georget M, et al. Rev Mal Respir. 2023 Apr;40(4):345-358. doi: 10.1016/j.rmr.2023.01.026. Epub 2023 Mar 1. Rev Mal Respir. 2023. PMID: 36863993 Review. French.
NGS techniques analyze DNA regions of interest in view accurately determining the relevant nucleotide sequence. Different kinds of analysis apply NGS : multigene panel testing, Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS). While regions of interest …
NGS techniques analyze DNA regions of interest in view accurately determining the relevant nucleotide sequence. Different kinds of analysis …
Clinical sequencing: is WGS the better WES?
Meienberg J, Bruggmann R, Oexle K, Matyas G. Meienberg J, et al. Hum Genet. 2016 Mar;135(3):359-62. doi: 10.1007/s00439-015-1631-9. Epub 2016 Jan 7. Hum Genet. 2016. PMID: 26742503 Free PMC article.
Current clinical next-generation sequencing is done by using gene panels and exome analysis, both of which involve selective capturing of target regions. ...Thus, from a clinical/technical point of view, WGS is the better WES so that capturing is no longer necessary …
Current clinical next-generation sequencing is done by using gene panels and exome analysis, both of which involve selective c …
[Lynch Syndrome].
Akagi K. Akagi K. Gan To Kagaku Ryoho. 2019 Jul;46(7):1097-1102. Gan To Kagaku Ryoho. 2019. PMID: 31296810 Japanese.
Lynch syndrome is caused by germline pathogenic variants in any of 4 DNA mismatch repair(MMR)genes MLH1, MSH2, MSH6 or PMS2 and rarely in the non-MMR gene EPCAM, in which deletion of its last exon induce epigenetic silencing of MSH2. Resent advances have been occurr …
Lynch syndrome is caused by germline pathogenic variants in any of 4 DNA mismatch repair(MMR)genes MLH1, MSH2, MSH6 or PMS2 and rarel …
Extended gene panel testing in lobular breast cancer.
van Veen EM, Evans DG, Harkness EF, Byers HJ, Ellingford JM, Woodward ER, Bowers NL, Wallace AJ, Howell SJ, Howell A, Lalloo F, Newman WG, Smith MJ. van Veen EM, et al. Fam Cancer. 2022 Apr;21(2):129-136. doi: 10.1007/s10689-021-00241-5. Epub 2021 Mar 25. Fam Cancer. 2022. PMID: 33763779 Free PMC article.
Here, we studied the frequency of pathogenic germline variants (PGVs) in an extended panel of genes in women affected with LBC. METHODS: 302 women with LBC and 1567 without breast cancer were tested for BRCA1/2 PGVs. ...CONCLUSION: The overall PGV detection r …
Here, we studied the frequency of pathogenic germline variants (PGVs) in an extended panel of genes in women affected with LBC …
Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.
Tung N, Lin NU, Kidd J, Allen BA, Singh N, Wenstrup RJ, Hartman AR, Winer EP, Garber JE. Tung N, et al. J Clin Oncol. 2016 May 1;34(13):1460-8. doi: 10.1200/JCO.2015.65.0747. Epub 2016 Mar 14. J Clin Oncol. 2016. PMID: 26976419 Free PMC article.

Next-generation sequencing (NGS) allows testing for mutations in additional breast cancer predisposition genes. ...Whereas young age (P < .01), Ashkenazi Jewish ancestry (P < .01), triple-negative breast cancer (P = .01), and family history of breast/ovarian c

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Next-generation sequencing (NGS) allows testing for mutations in additional breast cancer predisposition genes. ...Whereas you …
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