| 1 |
Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients. ( 29133208
)
|
Freire BL...Jorge AAL
|
2018 |
| 2 |
Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1. ( 29712865
)
|
Seo A...King MC
|
2018 |
| 3 |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. ( 27854360
)
|
Kalia SS...Miller DT
|
2017 |
| 4 |
Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype. ( 25472942
)
|
Sawyer SL...Greenberg RA
|
2015 |
| 5 |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ( 25356965
)
|
ACMG Board of Directors
|
2015 |
| 6 |
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. ( 25394175
)
|
Hampel H...Guideline Development Group, American College of Medical Genetics and Genomics Professional Practice and Guidelines Committee and National Society of Genetic Counselors Practice Guidelines Committee
|
2015 |
| 7 |
Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force. ( 24366402
)
|
|
2014 |
| 8 |
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. ( 24493721
)
|
Lu KH...American Society of Clinical Oncology
|
2014 |
| 9 |
Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement. ( 24366376
)
|
Moyer VA...U.S. Preventive Services Task Force
|
2014 |
| 10 |
Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer. ( 23269703
)
|
Domchek SM...Greenberg RA
|
2013 |
| 11 |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ( 23788249
)
|
Green RC...American College of Medical Genetics and Genomics
|
2013 |
| 12 |
Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. ( 23918944
)
|
Phillips KA...Hopper JL
|
2013 |
| 13 |
NSGC practice guideline: risk assessment and genetic counseling for hereditary breast and ovarian cancer. ( 23188549
)
|
Berliner JL...Tillmanns T
|
2013 |
| 14 |
A guide for functional analysis of BRCA1 variants of uncertain significance. ( 22753008
)
|
Millot GA...ENIGMA Consortium Functional Assay Working Group
|
2012 |
| 15 |
Tumor suppressor BRCA1 epigenetically controls oncogenic microRNA-155. ( 21946536
)
|
Chang S...Sharan SK
|
2011 |
| 16 |
American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. ( 20065170
)
|
Robson ME...American Society of Clinical Oncology
|
2010 |
| 17 |
ACOG Practice Bulletin No. 103: Hereditary breast and ovarian cancer syndrome. ( 19305347
)
|
American College of Obstetricians and Gynecologists...Society of Gynecologic Oncologists
|
2009 |
| 18 |
Germline BRCA1 mutations predispose to pancreatic adenocarcinoma. ( 18762988
)
|
Al-Sukhni W...Gallinger S
|
2008 |
| 19 |
Ovarian cancer patient with germline mutations in both BRCA1 and NBN genes. ( 18940477
)
|
Porhanova NV...Imyanitov EN
|
2008 |
| 20 |
Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach. ( 18285836
)
|
Tischkowitz M...Foulkes WD
|
2008 |
| 21 |
Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8. ( 17103455
)
|
Varon R...Kroisel PM
|
2007 |
| 22 |
American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. ( 17392385
)
|
Saslow D...American Cancer Society Breast Cancer Advisory Group
|
2007 |
| 23 |
Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors. ( 17508274
)
|
Berliner JL...Practice Issues Subcommittee of the National Society of Genetic Counselors' Familial Cancer Risk Counseling Special Interest Group
|
2007 |
| 24 |
Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability. ( 16033915
)
|
Seemanov? E...Digweed M
|
2006 |
| 25 |
ATM activation by ionizing radiation requires BRCA1-associated BAAT1. ( 16452482
)
|
Aglipay JA...Ouchi T
|
2006 |
| 26 |
The 185delAG mutation (c.68_69delAG) in the BRCA1 gene triggers translation reinitiation at a downstream AUG codon. ( 16941470
)
|
Buisson M...Mazoyer S
|
2006 |
| 27 |
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. ( 15604628
)
|
Trepanier A...National Society of Genetic Counselors
|
2004 |
| 28 |
657del5 mutation in the gene for Nijmegen breakage syndrome (NBS1) in a cohort of Russian children with lymphoid tissue malignancies and controls. ( 12833396
)
|
Resnick IB...Roumiantsev AG
|
2003 |
| 29 |
Structural consequences of a cancer-causing BRCA1-BRCT missense mutation. ( 12427738
)
|
Williams RS...Glover JN
|
2003 |
| 30 |
Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects. ( 12955716
)
|
D?ez O...Baiget M
|
2003 |
| 31 |
657del5 mutation in the NBS1 gene is associated with Nijmegen breakage syndrome in a Turkish family. ( 12123493
)
|
Tekin M...Akar N
|
2002 |
| 32 |
Frequency of 657del(5) mutation of the NBS1 gene in the Czech population by polymerase chain reaction with sequence specific primers. ( 12505263
)
|
Dr?bek J...Mih?l V
|
2002 |
| 33 |
Analysis of BRCA1 and BRCA2 in breast and breast/ovarian cancer families shows population substructure in the Iberian peninsula. ( 12014998
)
|
Vega A...Carracedo A
|
2002 |
| 34 |
Haplotype analysis of a BRCA1: 185delAG mutation in a Chilean family supports its Ashkenazi origins. ( 12220453
)
|
Ah Mew N...Foulkes WD
|
2002 |
| 35 |
An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome allele. ( 11279524
)
|
Maser RS...Petrini JH
|
2001 |
| 36 |
The western Swedish BRCA1 founder mutation 3171ins5; a 3.7 cM conserved haplotype of today is a reminiscence of a 1500-year-old mutation. ( 11781691
)
|
Bergman A...Nordling M
|
2001 |
| 37 |
The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript. ( 11385711
)
|
Vega A...Diez O
|
2001 |
| 38 |
Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families. ( 11157798
)
|
Vallon-Christersson J...Monteiro AN
|
2001 |
| 39 |
Clinical presentation and mutation identification in the NBS1 gene in a boy with Nijmegen breakage syndrome. ( 10852373
)
|
Kleier S...Horst J
|
2000 |
| 40 |
Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. ( 10788334
)
|
G?rski B...Lubi?ski J
|
2000 |
| 41 |
The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographically diverse populations. The BRCA1 Exon 13 Duplication Screening Group. ( 10827109
)
|
The BRCA1 Exon 13 Duplication Screening Group
|
2000 |
| 42 |
Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland. ( 11039575
)
|
Sarantaus L...Nevanlinna H
|
2000 |
| 43 |
Determination of the frequency of the common 657Del5 Nijmegen breakage syndrome mutation in the German population: no association with risk of breast cancer. ( 10398434
)
|
Carlomagno F...Ponder BA
|
1999 |
| 44 |
Germline BRCA1 alterations in a population-based series of ovarian cancer cases. ( 10196379
)
|
Janezic SA...Anton-Culver H
|
1999 |
| 45 |
De novo BRCA1 mutation in a patient with breast cancer and an inherited BRCA2 mutation. ( 10417300
)
|
Tesoriero A...Venter D
|
1999 |
| 46 |
Penetrances of BRCA1 1675delA and 1135insA with respect to breast cancer and ovarian cancer. ( 10441573
)
|
D?rum A...M?ller P
|
1999 |
| 47 |
Screening for germ-line rearrangements and regulatory mutations in BRCA1 led to the identification of four new deletions. ( 9927062
)
|
Puget N...Mazoyer S
|
1999 |
| 48 |
Evidence for a BRCA1 founder mutation in families of West African ancestry. ( 10417303
)
|
Mefford HC...Arena F
|
1999 |
| 49 |
Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. ( 9590180
)
|
Varon R...Reis A
|
1998 |
| 50 |
Positional cloning of the gene for Nijmegen breakage syndrome. ( 9620777
)
|
Matsuura S...Komatsu K
|
1998 |
