germline brca2 mutational  (Myriad Genetics)

Journal: Archives of pathology & laboratory medicine

Article Title: Familial Pancreatic Cancer

doi: 10.5858/133.3.365

Figure Lengend Snippet: Pancreatic Cancer-Associated Genetic Syndromes

Article Snippet: Goggins et al demonstrated that 7% of the patients with apparently sporadic pancreatic cancer at the Johns Hopkins Hospital had germline BRCA2 gene mutations 40 .

Techniques: Histopathology

Journal: Clinical cancer research : an official journal of the American Association for Cancer Research

Article Title: Higher Absolute Lymphocyte Counts Predict Lower Mortality from Early-Stage Triple-Negative Breast Cancer

doi: 10.1158/1078-0432.CCR-17-1323

Figure Lengend Snippet: Patient demographics for all patients and for the subset with a reported ALC at any time after breast cancer diagnosis

Article Snippet: Germline BRCA1 and BRCA2 (BRCA1/2) mutation status [tested and positive for a deleterious mutation; tested and negative for a deleterious mutation; tested and had a variant of uncertain significance (VUS); not tested or unknown] was obtained from Myriad Genetics, Inc., which was the single source of clinical BRCA1/2 testing during the study timeframe ( 28 ).

Techniques: Mutagenesis

Journal: Clinical cancer research : an official journal of the American Association for Cancer Research

Article Title: Higher Absolute Lymphocyte Counts Predict Lower Mortality from Early-Stage Triple-Negative Breast Cancer

doi: 10.1158/1078-0432.CCR-17-1323

Figure Lengend Snippet: Multivariable analysis of predictors of lymphopenia (ALC <1 K/µL; n = 747)

Article Snippet: Germline BRCA1 and BRCA2 (BRCA1/2) mutation status [tested and positive for a deleterious mutation; tested and negative for a deleterious mutation; tested and had a variant of uncertain significance (VUS); not tested or unknown] was obtained from Myriad Genetics, Inc., which was the single source of clinical BRCA1/2 testing during the study timeframe ( 28 ).

Techniques: Mutagenesis, Biomarker Discovery

Journal: Clinical cancer research : an official journal of the American Association for Cancer Research

Article Title: Higher Absolute Lymphocyte Counts Predict Lower Mortality from Early-Stage Triple-Negative Breast Cancer

doi: 10.1158/1078-0432.CCR-17-1323

Figure Lengend Snippet: Multivariable analysis of the association between minimum ALC and OM ( n = 747)

Article Snippet: Germline BRCA1 and BRCA2 (BRCA1/2) mutation status [tested and positive for a deleterious mutation; tested and negative for a deleterious mutation; tested and had a variant of uncertain significance (VUS); not tested or unknown] was obtained from Myriad Genetics, Inc., which was the single source of clinical BRCA1/2 testing during the study timeframe ( 28 ).

Techniques: Mutagenesis, Biomarker Discovery

Journal: Clinical cancer research : an official journal of the American Association for Cancer Research

Article Title: Higher Absolute Lymphocyte Counts Predict Lower Mortality from Early-Stage Triple-Negative Breast Cancer

doi: 10.1158/1078-0432.CCR-17-1323

Figure Lengend Snippet: Multivariable analysis of the association between minimum ALC and BCM (n = 747)

Article Snippet: Germline BRCA1 and BRCA2 (BRCA1/2) mutation status [tested and positive for a deleterious mutation; tested and negative for a deleterious mutation; tested and had a variant of uncertain significance (VUS); not tested or unknown] was obtained from Myriad Genetics, Inc., which was the single source of clinical BRCA1/2 testing during the study timeframe ( 28 ).

Techniques: Mutagenesis, Biomarker Discovery

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Article Title: BRCA1 , BRCA2 , PALB2 , and CDKN2A Mutations in Familial Pancreatic Cancer (FPC): A PACGENE Study

doi: 10.1038/gim.2014.153

Figure Lengend Snippet: Germline mutations and counts in 727 sequenced pancreatic cancer probands with positive family history. Deleterious mutations include suspected deleterious mutations. Novel variants are in bold . Two individuals had multiple mutations: a) PALB2 E837X (2509G> T) and PALB2 P806L (2417C> T); and b) BRCA1 187delAG and BRCA2 6174delT. Variants were present in one proband unless otherwise noted by n in brackets.

Article Snippet: Re-sequencing analysis for germline mutations in BRCA1 , BRCA2 , PALB2 , and CDKN2A and large rearrangement analysis for BRCA1 and BRCA2 was conducted by Myriad Genetic Laboratories, Inc. Full-sequence DNA analysis of these four genes and breakpoint analysis for five large genomic rearrangements in BRCA1 (exon13del3835bp, exon13ins6kb, exon14-20del26kb, exon22del510bp, and exon8-9del7.1kb) were performed using previously described methods., All testing adhered to Clinical Laboratory Improvement Amendments (CLIA) requirements.

Techniques:

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Article Title: BRCA1 , BRCA2 , PALB2 , and CDKN2A Mutations in Familial Pancreatic Cancer (FPC): A PACGENE Study

doi: 10.1038/gim.2014.153

Figure Lengend Snippet: Germline mutation prevalences stratified by deleterious mutations and variants of uncertain significance among probands from Familial Pancreatic Cancer (FPC) kindreds, and probands from kindreds that included at least two affected relatives, but not first degree (Non-FPC). Results shown for probands who were tested for all four genes (total n=716).

Article Snippet: Re-sequencing analysis for germline mutations in BRCA1 , BRCA2 , PALB2 , and CDKN2A and large rearrangement analysis for BRCA1 and BRCA2 was conducted by Myriad Genetic Laboratories, Inc. Full-sequence DNA analysis of these four genes and breakpoint analysis for five large genomic rearrangements in BRCA1 (exon13del3835bp, exon13ins6kb, exon14-20del26kb, exon22del510bp, and exon8-9del7.1kb) were performed using previously described methods., All testing adhered to Clinical Laboratory Improvement Amendments (CLIA) requirements.

Techniques: Mutagenesis

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Article Title: BRCA1 , BRCA2 , PALB2 , and CDKN2A Mutations in Familial Pancreatic Cancer (FPC): A PACGENE Study

doi: 10.1038/gim.2014.153

Figure Lengend Snippet: Germline mutation prevalences among pancreatic cancer probands with any biological family history of breast cancer, ovarian cancer, or melanoma. Results shown for probands who were tested for all four genes (total n=716).

Article Snippet: Re-sequencing analysis for germline mutations in BRCA1 , BRCA2 , PALB2 , and CDKN2A and large rearrangement analysis for BRCA1 and BRCA2 was conducted by Myriad Genetic Laboratories, Inc. Full-sequence DNA analysis of these four genes and breakpoint analysis for five large genomic rearrangements in BRCA1 (exon13del3835bp, exon13ins6kb, exon14-20del26kb, exon22del510bp, and exon8-9del7.1kb) were performed using previously described methods., All testing adhered to Clinical Laboratory Improvement Amendments (CLIA) requirements.

Techniques: Mutagenesis

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Article Title: BRCA1 , BRCA2 , PALB2 , and CDKN2A Mutations in Familial Pancreatic Cancer (FPC): A PACGENE Study

doi: 10.1038/gim.2014.153

Figure Lengend Snippet: Probability (%) that probands affected with pancreatic cancer (PC) will test positive for a deleterious mutation in BRCA1 , BRCA2 , PALB2 , or CDKN2A, if from kindreds with various cancer family histories. Number of PC includes proband. Sizes of sample subsets from which probabilities were estimated are shown in parentheses.

Article Snippet: Re-sequencing analysis for germline mutations in BRCA1 , BRCA2 , PALB2 , and CDKN2A and large rearrangement analysis for BRCA1 and BRCA2 was conducted by Myriad Genetic Laboratories, Inc. Full-sequence DNA analysis of these four genes and breakpoint analysis for five large genomic rearrangements in BRCA1 (exon13del3835bp, exon13ins6kb, exon14-20del26kb, exon22del510bp, and exon8-9del7.1kb) were performed using previously described methods., All testing adhered to Clinical Laboratory Improvement Amendments (CLIA) requirements.

Techniques: Mutagenesis

Journal: Molecular carcinogenesis

Article Title: Genetic Susceptibility to Pancreatic Cancer

doi: 10.1002/mc.20855

Figure Lengend Snippet: Established and Suggested Pancreatic Cancer Susceptibility Gene

Article Snippet: The first report of mutation in the BRCA2 gene among patients with pancreatic cancer was by Goggins et al. who reported that 7% (4/41) Johns Hopkins Hospital surgical patients with adenocarcinomas of the pancreas were found to have a germline deleterious mutation in the BRCA2 gene [ 29 ].

Techniques: Genome Wide

Journal:

Article Title: BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: an open resource for collaborative research

doi: 10.1007/s10549-008-0153-8

Figure Lengend Snippet: Table 1

Article Snippet: In the Australian Breast CFR, the process for and uptake to the offer of genetic test results has been reported previously [ 7 ]. table ft1 table-wrap mode=article t1 caption a4 BRCA1 and BRCA2 germline mutation testing for population-based and clinic-based families, excluding those tested for only the Ashkenazi Jewish founder mutations Definition of deleterious mutations The criteria for defining deleterious mutations were those used by the Breast Information Core (BIC; http://research.nhgri.nih.gov/bic/ ) and Myriad Genetic Laboratories, Inc. For BRCA1 , any frameshift or nonsense mutation that occurs at or before codon 1,853 was classified as deleterious.

Techniques: Mutagenesis

Journal:

Article Title: Advances in counselling and surveillance of patients at risk for pancreatic cancer

doi: 10.1136/gut.2006.108456

Figure Lengend Snippet: Table 1 Categories associated with specific pancreatic cancer risk factors

Article Snippet: 49 Another report from the National Familial Pancreatic Tumour Registry at Johns Hopkins determined that 5 (17%) of 29 families with ⩾3 relatives with pancreatic cancer had a BRCA2 germline mutation.

Techniques: Infection, Mutagenesis