Reply to BRCA2 splice site mutations in an Italian breast/ovarian cancer family (original) (raw)
Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2
Lawrence Brody
Journal of Medical Genetics, 2006
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The western Swedish BRCA1 founder mutation 3171ins5; a 3.7 cM conserved haplotype of today is a reminiscence of a 1500-year-old mutation
Margareta Nordling
European Journal of Human Genetics, 2001
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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
Javier Benítez
Carcinogenesis, 2009
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Classification of missense variants of unknown significance in BRCA1 based on clinical and tumor information
Ana Osorio
Human Mutation, 2007
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A BRCA2 mutation incorrectly mapped in the original BRCA2 reference sequence, is a common West Danish founder mutation disrupting mRNA splicing
Uffe Jensen
Breast Cancer Research and Treatment, 2011
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brca publication .pdf
kalpesh katudia
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BRCA2 T2722R Is a Deleterious Allele That Causes Exon Skipping
Luca Cartegni
The American Journal of Human Genetics, 2002
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Polymorphic variations in the FANCA gene in high-risk non-BRCA1/2 breast cancer individuals from the French Canadian population
Geneviève Ouellette, Francine Durocher
Molecular Oncology, 2013
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Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer
Paolo Peterlongo
PLoS Genetics, 2010
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Unclassified variants identified inBRCA1exon 11: Consequences on splicing
Sarah Triboulet
Genes, Chromosomes and Cancer, 2008
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ENIGMA—Evidence-Based Network for the Interpretation of Germline Mutant Alleles: An International Initiative to Evaluate Risk and Clinical Significance Associated with Sequence Variation in BRCA1 and BRCA2 Genes
Sandrine M Caputo
2012
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Two truncating variants in FANCC and breast cancer risk
Manuela Gago
Scientific Reports, 2019
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BRCA2: a genetic risk factor for breast cancer
Andreas Claas
Cancer Letters, 2002
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Identification of a founder BRCA2 mutation in Sardinia
Andrea Angius
British journal of cancer, 2000
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Molecular and in silico analysis of BRCA1 and BRCA2 variants☆
Francesco Schittulli
Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, 2008
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Lack of large genomic deletions in BRIP1, PALB2, and FANCD2 genes in BRCA1/2 negative familial breast cancer
Najim Ameziane
Breast Cancer Research and Treatment, 2009
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Unclassified variants identified in BRCA1 exon 11: Consequences on splicing
Rosette Lidereau
Genes, Chromosomes and Cancer, 2008
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A new mutation of BRCA2 gene in an Italian healthy woman with familial breast cancer history
Andrea Tinelli
Familial Cancer, 2010
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Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia
Orna Levran
Blood, 2004
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Italian family with two independent mutations: 3358T/A in BRCA1 and 8756delA in BRCA2 genes
Sergio FERRARI
European Journal of Human Genetics, 2003
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Meeting abstracts from the Annual Conference on Hereditary Cancers 2015
Antoni Morawski
Hereditary Cancer in Clinical Practice, 2017
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Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study
Antoine De Pauw, Bernard Asselain
European Journal of Human Genetics, 2009
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The c. 156_157insAlu BRCA2 rearrangement accounts for more than one-fourth of …
fernando castro
Breast cancer research …
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Identification and In Silico Analysis of Functional SNPs of the BRCA1 Gene
Sudandiradoss C
Genomics, 2007
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The c.156_157insAlu BRCA2 rearrangement accounts for more than one-fourth of deleterious BRCA mutations in northern/central Portugal
Joaquim Abreu
Breast Cancer Research and Treatment, 2009
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Germ line BRCA1 & BRCA2 mutations in Greek breast/ovarian cancer families: 5382insC is the most frequent mutation observed
Nikolaidis I, Eleni Efstathiou, Dimosthenis Skarlos, Christina Tsionou
Cancer Letters, 2002
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