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2025

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Page 1
Discovering moderate-risk breast cancer susceptibility genes.
Hollestelle A, Wasielewski M, Martens JW, Schutte M. Hollestelle A, et al. Curr Opin Genet Dev. 2010 Jun;20(3):268-76. doi: 10.1016/j.gde.2010.02.009. Epub 2010 Mar 24. Curr Opin Genet Dev. 2010. PMID: 20346647 Review.
The prevalence of the variants usually varies widely among different geographical or ethnic populations, ranging from essentially absent up to 1.5% (i.e. 'rare' variants). Since moderate-risk breast cancer alleles are clinically not recognizable when inherited as single mu …
The prevalence of the variants usually varies widely among different geographical or ethnic populations, ranging from essentially absent up …
Estimating cumulative risks for breast cancer for carriers of variants in uncommon genes.
Lindor NM, Hopper J, Dowty J. Lindor NM, et al. Fam Cancer. 2016 Jul;15(3):367-70. doi: 10.1007/s10689-016-9896-2. Fam Cancer. 2016. PMID: 26960971 Free PMC article. Review.
Evidence for increased risks associated with these genes is often expressed in odds ratios and studies often were conducted on a priori high risk cohorts, i.e. those with young onset disease and/or positive family histories. Despite these limitations, one can estimate cumu …
Evidence for increased risks associated with these genes is often expressed in odds ratios and studies often were conducted on a priori high …
Fanconi anemia: current management.
Kook H. Kook H. Hematology. 2005;10 Suppl 1:108-10. doi: 10.1080/10245330512331390096. Hematology. 2005. PMID: 16188650 Free article. Review.
Fanconi anemia (FA) is an autosomal recessive chromosomal instability disorder, characterized by congenital anomalies, defective hematopoiesis and a high risk of developing acute myeloid leukemia and certain solid tumors. All racial and ethnic groups are at risk, an
Fanconi anemia (FA) is an autosomal recessive chromosomal instability disorder, characterized by congenital anomalies, defecti
Fanconi anemia and DNA repair.
Grompe M, D'Andrea A. Grompe M, et al. Hum Mol Genet. 2001 Oct 1;10(20):2253-9. doi: 10.1093/hmg/10.20.2253. Hum Mol Genet. 2001. PMID: 11673408 Review.
Fanconi anemia (FA) is an autosomal recessive disorder caused by defects in at least eight distinct genes FANCA, B, C, D1, D2, E, F and G. The clinical phenotype of all FA complementation groups is similar and is characterized by progressive bone marro
Fanconi anemia (FA) is an autosomal recessive disorder caused by defects in at least eight distinct genes FANCA, B, C, D1, D2,
Fanconi anemia in Ashkenazi Jews.
Kutler DI, Auerbach AD. Kutler DI, et al. Fam Cancer. 2004;3(3-4):241-8. doi: 10.1007/s10689-004-9565-8. Fam Cancer. 2004. PMID: 15516848 Review.
Fanconi anemia (FA) should be included among the genetic diseases that occur at high frequency in the Ashkenazi Jewish population. ...Therefore, the study of Fanconi anemia can lend insight into the types of cancer-predisposing genetic diseases specifi
Fanconi anemia (FA) should be included among the genetic diseases that occur at high frequency in the Ashkenazi Jewish populat
Molecular pathogenesis of fanconi anemia.
Taniguchi T, Dandrea AD. Taniguchi T, et al. Int J Hematol. 2002 Feb;75(2):123-8. doi: 10.1007/BF02982016. Int J Hematol. 2002. PMID: 11939257 Review.
Fanconi anemia (FA) is a rare autosomal recessive chromosomal breakage disorder characterized by the childhood onset of aplastic anemia, developmental defects, cancer susceptibility, and cellular hypersensitivity to DNA-cross-linking agents. FA patients can b
Fanconi anemia (FA) is a rare autosomal recessive chromosomal breakage disorder characterized by the childhood onset of aplast
[PALB2, a major susceptibility gene for breast cancer].
Piffer A, Luporsi E, Mathelin C. Piffer A, et al. Gynecol Obstet Fertil Senol. 2018 Nov;46(10-11):701-705. doi: 10.1016/j.gofs.2018.08.006. Epub 2018 Sep 19. Gynecol Obstet Fertil Senol. 2018. PMID: 30243941 Review. French.
Cellular and molecular consequences of defective Fanconi anemia proteins in replication-coupled DNA repair: mechanistic insights.
Thompson LH, Hinz JM. Thompson LH, et al. Mutat Res. 2009 Jul 31;668(1-2):54-72. doi: 10.1016/j.mrfmmm.2009.02.003. Epub 2009 Feb 21. Mutat Res. 2009. PMID: 19622404 Free PMC article. Review.
The Fanconi anemia (FA) molecular network consists of 15 "FANC" proteins, of which 13 are associated with mutations in patients with this cancer-prone chromosome instability disorder. ...We have attempted to reconcile and integrate numerous observations into a model …
The Fanconi anemia (FA) molecular network consists of 15 "FANC" proteins, of which 13 are associated with mutations in patient …
Penetrance of male breast cancer susceptibility genes: a systematic review.
Chamseddine RS, Wang C, Yin K, Wang J, Singh P, Zhou J, Robson ME, Braun D, Hughes KS. Chamseddine RS, et al. Breast Cancer Res Treat. 2022 Jan;191(1):31-38. doi: 10.1007/s10549-021-06413-2. Epub 2021 Oct 13. Breast Cancer Res Treat. 2022. PMID: 34642874 Review.
PURPOSE: Several male breast cancer (MBC) susceptibility genes have been identified, but the MBC risk for individuals with a pathogenic variant in each of these genes (i.e., penetrance) remains unclear. We conducted a systematic review of studies reporting the penetrance o …
PURPOSE: Several male breast cancer (MBC) susceptibility genes have been identified, but the MBC risk for individuals with a pathogenic vari …
22 results