Two truncating variants in FANCC and breast cancer risk
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[1] G. Nalepa,et al. Fanconi anaemia and cancer: an intricate relationship , 2018, Nature Reviews Cancer.
[2] J. Soulier,et al. Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia , 2017, Genetics in Medicine.
[3] J. Benítez,et al. Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility , 2017, Genetics in Medicine.
[4] Gary D Bader,et al. Association analysis identifies 65 new breast cancer risk loci , 2017, Nature.
[5] Michael Jones,et al. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer , 2017, Nature Genetics.
[6] Minoru Takata,et al. Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia , 2017, The Journal of clinical investigation.
[7] Lara E Sucheston-Campbell,et al. Germline whole exome sequencing and large-scale replication identifies FANCM as a likely high grade serous ovarian cancer susceptibility gene , 2017, Oncotarget.
[8] K. Hodaňová,et al. Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2‐negatively tested breast cancer patients , 2016, Clinical genetics.
[9] A. D’Andrea,et al. The Fanconi anaemia pathway: new players and new functions , 2016, Nature Reviews Molecular Cell Biology.
[10] S. Cross,et al. No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing , 2016, Journal of Medical Genetics.
[11] Lara E Sucheston-Campbell,et al. Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. , 2015, Journal of the National Cancer Institute.
[12] Eliseos J. Mucaki,et al. FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor. , 2015, Human molecular genetics.
[13] F. Couch,et al. Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer , 2014, Proceedings of the National Academy of Sciences.
[14] T. Dörk,et al. Prevalence of PALB2 mutation c.509_510delGA in unselected breast cancer patients from Central and Eastern Europe , 2014, Familial Cancer.
[15] J. Benítez,et al. Evaluation of Rare Variants in the New Fanconi Anemia Gene ERCC4 (FANCQ) as Familial Breast/Ovarian Cancer Susceptibility Alleles , 2013, Human mutation.
[16] Henk M. W. Verheul,et al. Analysis of the Novel Fanconi Anemia Gene SLX4/FANCP in Familial Breast Cancer Cases , 2013, Human mutation.
[17] R. Tothill,et al. Exome Sequencing Identifies Rare Deleterious Mutations in DNA Repair Genes FANCC and BLM as Potential Breast Cancer Susceptibility Alleles , 2012, PLoS genetics.
[18] K. Offit,et al. Heterozygous Mutations in DNA Repair Genes and Hereditary Breast Cancer: A Question of Power , 2012, PLoS genetics.
[19] C. Begg,et al. Rare germline mutations in PALB2 and breast cancer risk: A population‐based study , 2012, Human mutation.
[20] Daniel J. Park,et al. A PALB2 mutation associated with high risk of breast cancer , 2010, Breast Cancer Research.
[21] T. Dörk,et al. PALB2 mutations in German and Russian patients with bilateral breast cancer , 2010, Breast Cancer Research and Treatment.
[22] Ana Osorio,et al. Mutational analysis of FANCL, FANCM and the recently identified FANCI suggests that among the 13 known Fanconi Anemia genes, only FANCD1/BRCA2 plays a major role in high-risk breast cancer predisposition. , 2009, Carcinogenesis.
[23] H. Nevanlinna,et al. The Breast Cancer Susceptibility Mutation PALB2 1592delT Is Associated with an Aggressive Tumor Phenotype , 2009, Clinical Cancer Research.
[24] J. Satagopan,et al. Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer. , 2007, Cancer research.
[25] Katri Pylkäs,et al. A recurrent mutation in PALB2 in Finnish cancer families , 2007, Nature.
[26] S. Seal,et al. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene , 2007, Nature Genetics.
[27] S. Seal,et al. Evaluation of Fanconi Anemia genes in familial breast cancer predisposition. , 2003, Cancer research.
[28] H. Joenje,et al. Sequence variations in the Fanconi anaemia gene, FAC: pathogenicity of 1806insA and R548X and recognition of D195V as a polymorphic variant , 1996, Human Genetics.
[29] C. Mathew,et al. Genetic mapping of the FACC gene and linkage analysis in Fanconi anaemia families. , 1994, Journal of medical genetics.
[30] C. Mathew,et al. Mutation analysis of the Fanconi anemia gene FACC. , 1994, American journal of human genetics.
[31] S. Leeder,et al. A population based study , 1993, The Medical journal of Australia.
[32] C. Mathew,et al. FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia , 1993, The Lancet.
[33] C. Mathew,et al. A nonsense mutation and exon skipping in the Fanconi anaemia group C gene. , 1993, Human molecular genetics.
[34] W. R. Shannon,et al. Cloning of cDNAs for Fanconi's anaemia by functional complementation , 1992, Nature.
[35] P. Jacobs,et al. Fanconi's anemia. A family study with 20‐year follow‐up including associated breast pathology , 1984, Cancer.
[36] M. Swift,et al. Reassessment of cancer predisposition of Fanconi anemia heterozygotes. , 1980, Journal of the National Cancer Institute.
[37] Bessie Head,et al. A question of power , 1973 .
[38] M. Swift. Fanconi's Anaemia in the Genetics of Neoplasia , 1971, Nature.