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BRCA2 Deep Intronic Mutation Causing Activation of a Cryptic Exon: Opening toward a New Preventive Therapeutic Strategy

Clinical cancer research, 2012-09, Vol.18 (18), p.4903-4909

2012

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RAD51 135G→C Modifies Breast Cancer Risk among BRCA2 Mutation Carriers: Results from a Combined Analysis of 19 Studies

American journal of human genetics, 2007-12, Vol.81 (6), p.1186-1200

2007

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Direct visualization of the highly polymorphic RNU2 locus in proximity to the BRCA1 gene

PloS one, 2013-10, Vol.8 (10), p.e76054-e76054

2013

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Does the nonsense-mediated mRNA decay mechanism prevent the synthesis of truncated BRCA1, CHK2, and p53 proteins

Human mutation, 2008, Vol.29 (1), p.65-73

2008

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Prediction and assessment of splicing alterations: implications for clinical testing

Human mutation, 2008-11, Vol.29 (11), p.1304-1313

2008

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The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons

Human molecular genetics, 2002-11, Vol.11 (23), p.2805-2814

2002

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Occurrence of a non deleterious gene conversion event in the BRCA1 gene

Genes chromosomes & cancer, 2015-10, Vol.54 (10), p.646-652

2015

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Mutation analysis of PALB2 gene in French breast cancer families

Breast cancer research and treatment, 2015-12, Vol.154 (3), p.463-471

2015

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The rs2910164:G>C SNP in the MIR146A gene is not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

Human mutation, 2011-09, Vol.32 (9), p.1004-1007

2011

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Estimation of the RNU2 macrosatellite mutation rate by BRCA1 mutation tracing

Nucleic acids research, 2014-08, Vol.42 (14), p.9121-9130

2014

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BRCA1 and BRCA2 mutations in breast and ovarian cancer syndrome: reflection on the Creighton University historical series of high risk families

Familial cancer, 2006-03, Vol.5 (1), p.15-20

2006

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Unclassified variants identified in BRCA1 exon 11: Consequences on splicing

Genes chromosomes & cancer, 2008-05, Vol.47 (5), p.418-426

2008

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FAN1 variants identified in multiple-case early-onset breast cancer families via exome sequencing: no evidence for association with risk for breast cancer

Breast cancer research and treatment, 2011-12, Vol.130 (3), p.1043-1049

2011

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Prevalence of BRCA1 and BRCA2 germline mutations in young breast cancer patients: A population‐based study

International journal of cancer, 2003-09, Vol.106 (4), p.588-593

2003

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Screening for germ-line rearrangements and regulatory mutations in BRCA1 led to the identification of four new deletions

Cancer research (Chicago, Ill.), 1999-01, Vol.59 (2), p.455-461

1999

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Distinct BRCA1 Rearrangements Involving the BRCA1 Pseudogene Suggest the Existence of a Recombination Hot Spot

American journal of human genetics, 2002-04, Vol.70 (4), p.858-865

2002

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Prognosis of early-onset breast cancer based on BRCA1/2 mutation status in a French population-based cohort and review

Breast cancer research and treatment, 2007-01, Vol.101 (2), p.233-245

2007

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The KL-VS sequence variant of Klotho and cancer risk in BRCA1 and BRCA2 mutation carriers

Breast cancer research and treatment, 2012-04, Vol.132 (3), p.1119-1126

2012

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PTEN germ-line mutations in juvenile polyposis coli

Nature genetics, 1998-01, Vol.18 (1), p.12-14

1998

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An Alu-Mediated 6-kb Duplication in the BRCA1 Gene: A New Founder Mutation?

American journal of human genetics, 1999, Vol.64 (1), p.300-302

1999

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A 1-kb alu-mediated germ-line deletion removing BRCA1 exon 17

Cancer research (Chicago, Ill.), 1997-03, Vol.57 (5), p.828-831

1997

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Germline BAP1 Mutations Predispose to Renal Cell Carcinomas

BRCA2 Deep Intronic Mutation Causing Activation of a Cryptic Exon: Opening toward a New Preventive Therapeutic Strategy

RAD51 135G→C Modifies Breast Cancer Risk among BRCA2 Mutation Carriers: Results from a Combined Analysis of 19 Studies

Direct visualization of the highly polymorphic RNU2 locus in proximity to the BRCA1 gene

Does the nonsense-mediated mRNA decay mechanism prevent the synthesis of truncated BRCA1, CHK2, and p53 proteins

Targeted Sequencing of the Mitochondrial Genome of Women at High Risk of Breast Cancer without Detectable Mutations in BRCA1/2

Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants

Prediction and assessment of splicing alterations: implications for clinical testing

The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons

Occurrence of a non deleterious gene conversion event in the BRCA1 gene

Mutation analysis of PALB2 gene in French breast cancer families

The rs2910164:G>C SNP in the MIR146A gene is not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

Estimation of the RNU2 macrosatellite mutation rate by BRCA1 mutation tracing

BRCA1 and BRCA2 mutations in breast and ovarian cancer syndrome: reflection on the Creighton University historical series of high risk families

Unclassified variants identified in BRCA1 exon 11: Consequences on splicing

FAN1 variants identified in multiple-case early-onset breast cancer families via exome sequencing: no evidence for association with risk for breast cancer

Prevalence of BRCA1 and BRCA2 germline mutations in young breast cancer patients: A population‐based study

Screening for germ-line rearrangements and regulatory mutations in BRCA1 led to the identification of four new deletions

Distinct BRCA1 Rearrangements Involving the BRCA1 Pseudogene Suggest the Existence of a Recombination Hot Spot

Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers

Prognosis of early-onset breast cancer based on BRCA1/2 mutation status in a French population-based cohort and review

The KL-VS sequence variant of Klotho and cancer risk in BRCA1 and BRCA2 mutation carriers

PTEN germ-line mutations in juvenile polyposis coli

An Alu-Mediated 6-kb Duplication in the BRCA1 Gene: A New Founder Mutation?

A 1-kb alu-mediated germ-line deletion removing BRCA1 exon 17

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