LIVIVO - Search results -

Search results

Result 1 - 10 of total 40

Search options

Article ; Online: Systematic Review and Meta-analysis of the Relationship Between Exposure to Parental Substance Use and Attention-Deficit/Hyperactivity Disorder in Children.

Maher, Brion S / Bitsko, Rebecca H / Claussen, Angelika H / O'Masta, Brenna / Cerles, Audrey / Holbrook, Joseph R / Mahmooth, Zayan / Chen-Bowers, Naomi / Rojo, Ana L Almeida / Kaminski, Jennifer W / Rush, Margaret

Prevention science : the official journal of the Society for Prevention Research

2023

Abstract: Attention-deficit/hyperactivity disorder (ADHD) is characterized by persistent patterns of inattention, hyperactivity, and impulsiveness. Among US children and adolescents aged 3-17 years, 9.4% have a diagnosis of ADHD. Previous research suggests ... ...

Abstract	Attention-deficit/hyperactivity disorder (ADHD) is characterized by persistent patterns of inattention, hyperactivity, and impulsiveness. Among US children and adolescents aged 3-17 years, 9.4% have a diagnosis of ADHD. Previous research suggests possible links between parental substance use and ADHD among children. We conducted a systematic review and meta-analysis of 86 longitudinal or retrospective studies of prenatal or postnatal alcohol, tobacco, or other parental substance use and substance use disorders and childhood ADHD and its related behavioral dimensions of inattention and hyperactivity-impulsivity. Meta-analyses were grouped by drug class and pre- and postnatal periods with combined sample sizes ranging from 789 to 135,732. Prenatal exposure to alcohol or tobacco and parent substance use disorders were consistently and significantly associated with ADHD among children. Other parental drug use exposures resulted in inconsistent or non-significant findings. Prevention and treatment of parental substance use may have potential for impacts on childhood ADHD.
Language	English
Publishing date	2023-11-17
Publishing country	United States
Document type	Journal Article
ZDB-ID	2251270-6
ISSN	1573-6695 ; 1389-4986
ISSN (online)	1573-6695
ISSN	1389-4986
DOI	10.1007/s11121-023-01605-2
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 6466: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
ab Jg. 2022: Lesesaal (EG)

Order via subito

This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

Details ▾

Article ; Online: Screening of potential novel candidate genes in schwannomatosis patients.

Perez-Becerril, Cristina / Wallace, Andrew J / Schlecht, Helene / Bowers, Naomi L / Smith, Philip T / Gokhale, Carolyn / Eaton, Helen / Charlton, Chris / Robinson, Rachel / Charlton, Ruth S / Evans, D Gareth / Smith, Miriam J

Human mutation

2022 Volume 43, Issue 10, Page(s) 1368–1376

Abstract: Schwannomatosis comprises a group of hereditary tumor predisposition syndromes characterized by, usually benign, multiple nerve sheath tumors, which frequently cause severe pain that does not typically respond to drug treatments. The most common ... ...

Abstract	Schwannomatosis comprises a group of hereditary tumor predisposition syndromes characterized by, usually benign, multiple nerve sheath tumors, which frequently cause severe pain that does not typically respond to drug treatments. The most common schwannomatosis-associated gene is NF2, but SMARCB1 and LZTR1 are also associated. There are still many cases in which no pathogenic variants (PVs) have been identified, suggesting the existence of as yet unidentified genetic risk factors. In this study, we performed extended genetic screening of 75 unrelated schwannomatosis patients without identified germline PVs in NF2, LZTR1, or SMARCB1. Screening of the coding region of DGCR8, COQ6, CDKN2A, and CDKN2B was carried out, based on previous reports that point to these genes as potential candidate genes for schwannomatosis. Deletions or duplications in CDKN2A, CDKN2B, and adjacent chromosome 9 region were assessed by multiplex ligation-dependent probe amplification analysis. Sequencing analysis of a patient with multiple schwannomas and melanomas identified a novel duplication in the coding region of CDKN2A, disrupting both p14ARF and p16INK4a. Our results suggest that none of these genes are major contributors to schwannomatosis risk but the possibility remains that they may have a role in more complex mechanisms for tumor predisposition.
MeSH term(s)	Cyclin-Dependent Kinase Inhibitor p16/genetics ; Humans ; Neurilemmoma/genetics ; Neurilemmoma/pathology ; Neurofibromatoses/genetics ; RNA-Binding Proteins ; SMARCB1 Protein/genetics ; Skin Neoplasms/genetics ; Transcription Factors/genetics
Chemical Substances	CDKN2A protein, human ; Cyclin-Dependent Kinase Inhibitor p16 ; LZTR1 protein, human ; RNA-Binding Proteins ; SMARCB1 Protein ; Transcription Factors
Language	English
Publishing date	2022-06-27
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S.
ZDB-ID	1126646-6
ISSN	1098-1004 ; 1059-7794
ISSN (online)	1098-1004
ISSN	1059-7794
DOI	10.1002/humu.24424
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 3586: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

Article ; Online: Re-evaluation of missense variant classifications in NF2.

Sadler, Katherine V / Rowlands, Charlie F / Smith, Philip T / Hartley, Claire L / Bowers, Naomi L / Roberts, Nicola Y / Harris, Jade L / Wallace, Andrew J / Evans, D Gareth / Messiaen, Ludwine M / Smith, Miriam J

Human mutation

2022 Volume 43, Issue 5, Page(s) 643–654

Abstract: Missense variants in the NF2 gene result in variable NF2 disease presentation. Clinical classification of missense variants often represents a challenge, due to lack of evidence for pathogenicity and function. This study provides a summary of NF2 ... ...

Abstract	Missense variants in the NF2 gene result in variable NF2 disease presentation. Clinical classification of missense variants often represents a challenge, due to lack of evidence for pathogenicity and function. This study provides a summary of NF2 missense variants, with variant classifications based on currently available evidence. NF2 missense variants were collated from pathology-associated databases and existing literature. Association for Clinical Genomic Sciences Best Practice Guidelines (2020) were followed in the application of evidence for variant interpretation and classification. The majority of NF2 missense variants remain classified as variants of uncertain significance. However, NF2 missense variants identified in gnomAD occurred at a consistent rate across the gene, while variants compiled from pathology-associated databases displayed differing rates of variation by exon of NF2. The highest rate of NF2 disease-associated variants was observed in exon 7, while lower rates were observed toward the C-terminus of the NF2 protein, merlin. Further phenotypic information associated with variants, alongside variant-specific functional analysis, is necessary for more definitive variant interpretation. Our data identified differences in frequency of NF2 missense variants by exon between gnomAD population data and NF2 disease-associated variants, suggesting a potential genotype-phenotype correlation; further work is necessary to substantiate this.
MeSH term(s)	Genes, Neurofibromatosis 2 ; Genetic Association Studies ; Genomics ; Humans ; Mutation, Missense ; Neurofibromin 2/genetics
Chemical Substances	Neurofibromin 2
Language	English
Publishing date	2022-04-02
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1126646-6
ISSN	1098-1004 ; 1059-7794
ISSN (online)	1098-1004
ISSN	1059-7794
DOI	10.1002/humu.24370
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 3586: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

Article ; Online: Uptake of pre-symptomatic testing for

Forde, Claire / Brunstrom, Kate / Woodward, Emma / Bowers, Naomi / Pereira, Marta / Wallace, Andrew J / Lalloo, Fiona / Harkness, Elaine F / Evans, D Gareth

Journal of medical genetics

2020

Abstract: Background: Genetic testing for : Methods: First-degree relatives (FDRs) in families with : Results: 2554 male and 3115 female FDRs were eligible. Overall uptake was 775 (30.3%) in men and 1935 (62.1%) in women. This increased at 15 years to 33.6% ...

Abstract	Background: Genetic testing for Methods: First-degree relatives (FDRs) in families with Results: 2554 male and 3115 female FDRs were eligible. Overall uptake was 775 (30.3%) in men and 1935 (62.1%) in women. This increased at 15 years to 33.6% and 67.9%, and continued to rise until 24 years (p<0.001). For women, the 29-year to 39-year age group had the highest uptake at 10 years FU (72.5%; p<0.01), whereas the 50-year to 59-year age group was highest in men (37.2%; p<0.01). Women <18 years at the time of familial variant identification had lower initial uptake, but this rose to >80% by 15 years. Uptake was higher in parous women (p<0.001) and in men with daughters (p<0.0001). Conclusion: Uptake of
Language	English
Publishing date	2020-04-30
Publishing country	England
Document type	Journal Article
ZDB-ID	220881-7
ISSN	1468-6244 ; 0022-2593
ISSN (online)	1468-6244
ISSN	0022-2593
DOI	10.1136/jmedgenet-2019-106544
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 177: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article: Gene Panel Testing for Breast Cancer Reveals Differential Effect of Prior

Evans, D Gareth / van Veen, Elke M / Woodward, Emma R / Harkness, Elaine F / Ellingford, Jamie M / Bowers, Naomi L / Wallace, Andrew J / Howell, Sacha J / Howell, Anthony / Lalloo, Fiona / Newman, William G / Smith, Miriam J

Cancers

2021 Volume 13, Issue 16

Abstract: Whilst panel testing of an extended group of genes ... ...

Abstract	Whilst panel testing of an extended group of genes including
Language	English
Publishing date	2021-08-18
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2527080-1
ISSN	2072-6694
ISSN	2072-6694
DOI	10.3390/cancers13164154
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article ; Online: Germline FFPE inherited cancer panel testing in deceased family members: implications for clinical management of unaffected relatives.

Bennett, Sarah / Alexander, Elizabeth / Fraser, Harry / Bowers, Naomi / Wallace, Andrew / Woodward, Emma R / Lalloo, Fiona / Quinn, Anne Marie / Huang, Shuwen / Schlecht, Helene / Evans, D Gareth

European journal of human genetics : EJHG

2021 Volume 29, Issue 5, Page(s) 861–871

Abstract: Where previously, germline genetic testing in deceased affected relatives was not possible due to the absence of lymphocytic DNA, the North-West-Genomic-Laboratory Hub (NWGLH) has developed and validated next-generation sequencing based gene panels ... ...

Abstract	Where previously, germline genetic testing in deceased affected relatives was not possible due to the absence of lymphocytic DNA, the North-West-Genomic-Laboratory Hub (NWGLH) has developed and validated next-generation sequencing based gene panels utilising formalin-fixed-paraffin-embedded (FFPE) tissue DNA from deceased individuals. This technology has been utilised in the clinical setting for the management of unaffected relatives seen in the Clinical Genetics Service (CGS). Here we assess the clinical impact. At the time of data collection, the NWGLH had analysed 180 FFPE tissue samples from deceased affected individuals: 134 from breast and/or ovarian cancer cases for germline variants in the BRCA1/BRCA2 genes and 46 from colorectal, gastric, ovarian and endometrial cancer cases for germline variants in a panel of 13 genes implicated in inherited colorectal cancer and gastric cancer conditions. Successful analysis was achieved in 140/180 cases (78%). In total, 29 germline pathogenic/likely pathogenic variants were identified in autosomal dominant cancer predisposition genes where the gene was pertinent to the cancer family history (including BRCA1/BRCA2, the mismatch-repair genes and APC). Of the 180 cases, the impact of the result on clinical management of unaffected relatives was known in 143 cases. Of these, the results in 54 cases (38%) directly impacted the clinical management of relatives seen by the CGS. This included changes to risk assessments, screening recommendations and the availability of predictive genetic testing to unaffected relatives. Our data demonstrate how FFPE testing in deceased relatives is an accurate and informative tool in the clinical management of patients referred to the CGS.
MeSH term(s)	Autopsy ; Gastrointestinal Neoplasms/genetics ; Gastrointestinal Neoplasms/pathology ; Genetic Counseling/methods ; Genetic Testing/methods ; Germ-Line Mutation ; Hereditary Breast and Ovarian Cancer Syndrome/genetics ; Hereditary Breast and Ovarian Cancer Syndrome/pathology ; High-Throughput Nucleotide Sequencing/methods ; Humans ; Paraffin Embedding/methods ; Pedigree ; Sequence Analysis, DNA/methods ; Tissue Fixation/methods
Language	English
Publishing date	2021-03-02
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1141470-4
ISSN	1476-5438 ; 1018-4813
ISSN (online)	1476-5438
ISSN	1018-4813
DOI	10.1038/s41431-021-00817-w
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 3589: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

Article: Risk of Contralateral Breast Cancer in Women with and without Pathogenic Variants in

Hyder, Zerin / Harkness, Elaine F / Woodward, Emma R / Bowers, Naomi L / Pereira, Marta / Wallace, Andrew J / Howell, Sacha J / Howell, Anthony / Lalloo, Fiona / Newman, William G / Smith, Miriam J / Evans, D Gareth

Cancers

2020 Volume 12, Issue 2

Abstract: Early age at diagnosis of breast cancer is a known risk factor for hereditary predisposition and some studies show a high risk of contralateral breast cancer ... ...

Abstract	Early age at diagnosis of breast cancer is a known risk factor for hereditary predisposition and some studies show a high risk of contralateral breast cancer in
Language	English
Publishing date	2020-02-07
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2527080-1
ISSN	2072-6694
ISSN	2072-6694
DOI	10.3390/cancers12020378
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article ; Online: Assessment of mismatch repair deficiency in ovarian cancer.

Crosbie, Emma J / Ryan, Neil A J / McVey, Rhona J / Lalloo, Fiona / Bowers, Naomi / Green, Kate / Woodward, Emma R / Clancy, Tara / Bolton, James / Wallace, Andrew J / McMahon, Raymond F / Evans, D Gareth

Journal of medical genetics

2020 Volume 58, Issue 10, Page(s) 687–691

Abstract: Background: Hereditary causes of ovarian cancer include Lynch syndrome, which is due to inherited pathogenic variants affecting one of the four mismatch repair genes involved in DNA repair. The aim of this study was to evaluate tumour mismatch repair ... ...

Abstract	Background: Hereditary causes of ovarian cancer include Lynch syndrome, which is due to inherited pathogenic variants affecting one of the four mismatch repair genes involved in DNA repair. The aim of this study was to evaluate tumour mismatch repair deficiency and prevalence of Lynch syndrome in high-risk women referred to the Manchester Centre for Genomic Medicine with ovarian cancer over the past 20 years. Methods: Women with ovarian cancer diagnosed before the age of 35 years and/or with a suggestive personal or family history of Lynch syndrome cancers underwent tumour testing with immunohistochemistry for mismatch repair deficiency and, where indicated, Results: In total, 261 ovarian cancers were tested and 27 (10.3%; 95% CI 6.9% to 14.7%) showed mismatch repair deficiency by immunohistochemistry. Three of 7 with MLH1 loss showed Conclusions: Tumour mismatch repair deficiency identified by immunohistochemistry is a useful prescreen for constitutional testing in women with ovarian cancer with personal or family histories suggestive of Lynch syndrome.
MeSH term(s)	Adult ; Alleles ; DNA Damage ; DNA Methylation ; DNA Mismatch Repair/genetics ; Female ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genetic Testing ; Germ-Line Mutation ; Humans ; Immunohistochemistry ; Microsatellite Instability ; MutL Protein Homolog 1/genetics ; MutL Protein Homolog 1/metabolism ; Mutation ; Neoplasm Grading ; Neoplasm Staging ; Ovarian Neoplasms/diagnosis ; Ovarian Neoplasms/etiology ; Ovarian Neoplasms/metabolism ; Sequence Deletion ; Young Adult
Chemical Substances	MLH1 protein, human ; MutL Protein Homolog 1 (EC 3.6.1.3)
Keywords	covid19
Language	English
Publishing date	2020-09-11
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	220881-7
ISSN	1468-6244 ; 0022-2593
ISSN (online)	1468-6244
ISSN	0022-2593
DOI	10.1136/jmedgenet-2020-107270
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 177: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Advances in genetic technologies result in improved diagnosis of mismatch repair deficiency in colorectal and endometrial cancers.

Evans, D Gareth / Lalloo, Fiona / Ryan, Neil Aj / Bowers, Naomi / Green, Kate / Woodward, Emma R / Clancy, Tara / Bolton, James / McVey, Rhona J / Wallace, Andrew J / Newton, Katy / Hill, James / McMahon, Raymond / Crosbie, Emma J

Journal of medical genetics

2021 Volume 59, Issue 4, Page(s) 328–334

Abstract: Background: Testing cancers for mismatch repair deficiency (dMMR) by immunohistochemistry (IHC) is a quick and inexpensive means of triaging individuals for germline Lynch syndrome testing. The aim of this study was to evaluate tumour dMMR and the ... ...

Abstract	Background: Testing cancers for mismatch repair deficiency (dMMR) by immunohistochemistry (IHC) is a quick and inexpensive means of triaging individuals for germline Lynch syndrome testing. The aim of this study was to evaluate tumour dMMR and the prevalence of Lynch syndrome in patients referred to the Manchester Centre for Genomic Medicine, which serves a population of 5.6 million. Methods: Tumour testing used IHC for MMR proteins with targeted Results: In total, 3694 index tumours were tested by IHC (2204 colorectal cancers (CRCs), 739 endometrial cancers (ECs) and 761 other), of which 672/3694 (18.2%) had protein loss, including 348 (9.4%) with MLH1 loss. MLH1 loss was significantly higher for 739 ECs (15%) vs 2204 CRCs (10%) (p=0.0003) and was explained entirely by higher rates of somatic Conclusions: Reflex testing of EC/CRC leads to uncertain diagnoses in many individuals with dMMR following IHC but without germline pathogenic variants or
MeSH term(s)	Brain Neoplasms ; Colorectal Neoplasms/genetics ; Colorectal Neoplasms, Hereditary Nonpolyposis/diagnosis ; Colorectal Neoplasms, Hereditary Nonpolyposis/genetics ; Colorectal Neoplasms, Hereditary Nonpolyposis/pathology ; DNA Methylation/genetics ; DNA Mismatch Repair/genetics ; Endometrial Neoplasms/diagnosis ; Endometrial Neoplasms/genetics ; Endometrial Neoplasms/pathology ; Female ; Germ-Line Mutation/genetics ; Humans ; Mismatch Repair Endonuclease PMS2/genetics ; MutL Protein Homolog 1/genetics ; MutS Homolog 2 Protein/genetics ; Neoplastic Syndromes, Hereditary ; Proto-Oncogene Proteins B-raf/genetics ; Proto-Oncogene Proteins B-raf/metabolism
Chemical Substances	Proto-Oncogene Proteins B-raf (EC 2.7.11.1) ; Mismatch Repair Endonuclease PMS2 (EC 3.6.1.3) ; MutL Protein Homolog 1 (EC 3.6.1.3) ; MutS Homolog 2 Protein (EC 3.6.1.3)
Language	English
Publishing date	2021-01-15
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	220881-7
ISSN	1468-6244 ; 0022-2593
ISSN (online)	1468-6244
ISSN	0022-2593
DOI	10.1136/jmedgenet-2020-107542
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 177: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Extended gene panel testing in lobular breast cancer.

van Veen, Elke M / Evans, D Gareth / Harkness, Elaine F / Byers, Helen J / Ellingford, Jamie M / Woodward, Emma R / Bowers, Naomi L / Wallace, Andrew J / Howell, Sacha J / Howell, Anthony / Lalloo, Fiona / Newman, William G / Smith, Miriam J

Familial cancer

2021 Volume 21, Issue 2, Page(s) 129–136

Abstract: Purpose: Lobular breast cancer (LBC) accounts for ~ 15% of breast cancer. Here, we studied the frequency of pathogenic germline variants (PGVs) in an extended panel of genes in women affected with LBC.: Methods: 302 women with LBC and 1567 without ... ...

Abstract	Purpose: Lobular breast cancer (LBC) accounts for ~ 15% of breast cancer. Here, we studied the frequency of pathogenic germline variants (PGVs) in an extended panel of genes in women affected with LBC. Methods: 302 women with LBC and 1567 without breast cancer were tested for BRCA1/2 PGVs. A subset of 134 LBC affected women who tested negative for BRCA1/2 PGVs underwent extended screening, including: ATM, CDH1, CHEK2, NBN, PALB2, PTEN, RAD50, RAD51D, and TP53. Results: 35 PGVs were identified in the group with LBC, of which 22 were in BRCA1/2. Ten actionable PGVs were identified in additional genes (ATM(4), CDH1(1), CHEK2(1), PALB2(2) and TP53(2)). Overall, PGVs in three genes conferred a significant increased risk for LBC. Odds ratios (ORs) were: BRCA1: OR = 13.17 (95%CI 2.83-66.38; P = 0.0017), BRCA2: OR = 10.33 (95%CI 4.58-23.95; P < 0.0001); and ATM: OR = 8.01 (95%CI 2.52-29.92; P = 0.0053). We did not detect an increased risk of LBC for PALB2, CDH1 or CHEK2. Conclusion: The overall PGV detection rate was 11.59%, with similar rates of BRCA1/2 (7.28%) PGVs as for other actionable PGVs (7.46%), indicating a benefit for extended panel genetic testing in LBC. We also report a previously unrecognised association of pathogenic variants in ATM with LBC.
MeSH term(s)	Breast Neoplasms/diagnosis ; Female ; Genes, BRCA2 ; Genetic Predisposition to Disease ; Genetic Testing ; Germ-Line Mutation ; Humans
Language	English
Publishing date	2021-03-25
Publishing country	Netherlands
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1502496-9
ISSN	1573-7292 ; 1389-9600
ISSN (online)	1573-7292
ISSN	1389-9600
DOI	10.1007/s10689-021-00241-5
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 6099: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

To top

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito