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Article ; Online: Response to Letter to the Editor: "p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer".

Turnbull, Clare / Loveday, Chey / Izatt, Louise / Ellard, Sian

The Journal of clinical endocrinology and metabolism

2018 Volume 103, Issue 9, Page(s) 3518–3519

MeSH term(s)	Humans ; Mutation ; Proto-Oncogene Proteins c-ret/genetics ; Thyroid Neoplasms
Chemical Substances	Proto-Oncogene Proteins c-ret (EC 2.7.10.1) ; RET protein, human (EC 2.7.10.1)
Language	English
Publishing date	2018-07-19
Publishing country	United States
Document type	Letter ; Comment
ZDB-ID	3029-6
ISSN	1945-7197 ; 0021-972X
ISSN (online)	1945-7197
ISSN	0021-972X
DOI	10.1210/jc.2018-01094
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Conference proceedings ; Online: Prioritisation by FIT to mitigate the impact of delays in the 2-week wait colorectal cancer referral pathway during the COVID-19 pandemic

Loveday, Chey / Sud, Amit / Jones, Michael E / Scott, Stephen / Gronthound, Firza / Torr, Beth / McFerran, Ethna

Loveday , C , Sud , A , Jones , M E , Scott , S , Gronthound , F , Torr , B & McFerran , E 2020 , ' Prioritisation by FIT to mitigate the impact of delays in the 2-week wait colorectal cancer referral pathway during the COVID-19 pandemic: a UK modelling study ' , Joint Public Health Conference 2020 , 17/11/2020 - 17/11/2020 .

a UK modelling study

2020

Abstract: Objective:To evaluate the impact of faecal immunochemical testing (FIT) prioritisation to mitigate the impact of delay in the 2-week-wait (2WW) colorectal cancer (CRC) urgent diagnostic pathway consequent from the Coronavirus disease 2019 (COVID-19) ... ...

Abstract	Objective:To evaluate the impact of faecal immunochemical testing (FIT) prioritisation to mitigate the impact of delay in the 2-week-wait (2WW) colorectal cancer (CRC) urgent diagnostic pathway consequent from the Coronavirus disease 2019 (COVID-19) pandemic.Design:We modelled the reduction in CRC survival and life years lost resultant from per-patient delays of 2-6 months in the 2WW pathway. We stratified by age-group, individual-level benefit in CRC cancer survival versus age-specific nosocomial COVID-19-related fatality per referred patient undergoing colonoscopy. We modelled mitigation strategies using thresholds of FIT triage of 2, 10 and 150 ug Hb/g to prioritise 2WW referrals for colonoscopy. To construct the underlying models, we employed 10-year net CRC survival for England 2008-2017, 2WW pathway CRC case and referral volumes and per-day-delay hazard ratios generated from observational studies of diagnosis-to-treatment interval.Results:Delay of 2/ 4/ 6 months across all 11,266 CRC patients diagnosed per typical year via the 2WW pathway were estimated to result in 653/ 1,419/ 2,250 attributable deaths and loss of 9,214/ 20,315/ 32,799 life years. Risk-benefit from urgent investigatory referral is particularly sensitive to nosocomial COVID-19 infection rates for patients aged >60. Prioritisation out of delay for the 18% of symptomatic referrals with FIT >10 ug Hb/g would avoid 89% of these deaths attributable to delay, whilst reducing immediate requirement for colonoscopy by >80%.Conclusions:Delays in the pathway to CRC diagnosis and treatment have potential to cause significant mortality and loss of life years. FIT-triage of symptomatic patients in primary care could streamline access to colonoscopy, reduce delays for true-positive CRC cases and reduce nosocomial COVID-19 mortality in older true-negative 2WW referrals. However, this strategy offers benefit only in short-term rationalisation of limited endoscopy services: the appreciable false-negative rate in symptomatic patients of FIT means colonoscopy is still required in the majority.
Keywords	COVID-19 ; faecal immunochemical test ; Cancer ; Colorectal cancer ; Colonoscopy ; Waiting Lists ; Waiting times ; Capacity planning ; covid19
Language	English
Publishing date	2020-11-17
Publishing country	uk
Document type	Conference proceedings ; Online
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Article ; Online: p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer.

Loveday, Chey / Josephs, Katherine / Chubb, Daniel / Gunning, Adam / Izatt, Louise / Tischkowitz, Marc / Ellard, Sian / Turnbull, Clare

The Journal of clinical endocrinology and metabolism

2018 Volume 103, Issue 11, Page(s) 4275–4282

Abstract: Context: To date, penetrance figures for medullary thyroid cancer (MTC) for variants in rearranged during transfection (RET) have been estimated from families ascertained because of the presence of MTC.: Objective: To gain estimates of penetrance, ... ...

Abstract	Context: To date, penetrance figures for medullary thyroid cancer (MTC) for variants in rearranged during transfection (RET) have been estimated from families ascertained because of the presence of MTC. Objective: To gain estimates of penetrance, unbiased by ascertainment, we analyzed 61 RET mutations assigned as disease causing by the American Thyroid Association (ATA) in population whole-exome sequencing data. Design: For the 61 RET mutations, we used analyses of the observed allele frequencies in ∼51,000 individuals from the Exome Aggregation Consortium (ExAC) database that were not contributed via The Cancer Genome Atlas (TCGA; non-TCGA ExAC), assuming lifetime penetrance for MTC of 90%, 50%, and unbounded. Setting: Population-based. Results: Ten of 61 ATA disease-causing RET mutations were present in the non-TCGA ExAC population with observed frequency consistent with penetrance for MTC of >90%. For p.Val804Met, the lifetime penetrance for MTC, estimated from the allele frequency observed, was 4% [95% confidence interval (CI), 0.9% to 8%]. Conclusions: Based on penetrance analysis in carrier relatives of p.Val804Met-positive cases of MTC, p.Val804Met is currently understood to have high-lifetime penetrance for MTC (87% by age 70), albeit of later onset of MTC than other RET mutations. Given our unbiased estimate of penetrance for RET p.Val804Met of 4% (95% CI, 0.9% to 8%), the current recommendation by the ATA of prophylactic thyroidectomy as standard for all RET mutation carriers is likely inappropriate.
MeSH term(s)	Adult ; Aged ; Carcinoma, Neuroendocrine/epidemiology ; Carcinoma, Neuroendocrine/genetics ; Carcinoma, Neuroendocrine/prevention & control ; Databases, Genetic/statistics & numerical data ; Datasets as Topic ; Endocrinology/standards ; Female ; Gene Frequency ; Humans ; Male ; Middle Aged ; Multiple Endocrine Neoplasia Type 2a/genetics ; Penetrance ; Polymorphism, Single Nucleotide ; Practice Guidelines as Topic ; Prophylactic Surgical Procedures/standards ; Proto-Oncogene Proteins c-ret/genetics ; Risk Assessment/statistics & numerical data ; Societies, Medical/standards ; Thyroid Neoplasms/epidemiology ; Thyroid Neoplasms/genetics ; Thyroid Neoplasms/prevention & control ; Thyroidectomy/standards ; United States/epidemiology ; Whole Exome Sequencing
Chemical Substances	Proto-Oncogene Proteins c-ret (EC 2.7.10.1) ; RET protein, human (EC 2.7.10.1)
Language	English
Publishing date	2018-03-28
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	3029-6
ISSN	1945-7197 ; 0021-972X
ISSN (online)	1945-7197
ISSN	0021-972X
DOI	10.1210/jc.2017-02529
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Article ; Online: Genetically Inferred Telomere Length and Testicular Germ Cell Tumor Risk.

Brown, Derek W / Lan, Qing / Rothman, Nathaniel / Pluta, John / Almstrup, Kristian / Dalgaard, Marlene D / Greene, Mark H / Grotmol, Tom / Loveday, Chey / Schwartz, Stephen M / Turnbull, Clare / Wiklund, Fredrik / Kanetsky, Peter A / Nathanson, Katherine L / McGlynn, Katherine A / Machiela, Mitchell J

Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology

2021 Volume 30, Issue 6, Page(s) 1275–1278

Abstract: Background: Studies evaluating the association between peripheral blood leukocyte telomere length (LTL) and testicular germ cell tumor (TGCT) risk have produced conflicting results.: Methods: Using available genotype data from the Testicular Cancer ... ...

Abstract	Background: Studies evaluating the association between peripheral blood leukocyte telomere length (LTL) and testicular germ cell tumor (TGCT) risk have produced conflicting results. Methods: Using available genotype data from the Testicular Cancer Consortium (TECAC), polygenic risk score and Mendelian randomization analyses of genetic variants previously associated with LTL were used to assess potential etiologic associations between telomere length and TGCT risk. Results: Genetically inferred telomere length was not associated with TGCT risk among 2,049 cases and 6,921 controls with individual-level genotype data (OR, 1.02; 95% confidence interval, 0.97-1.07). Mendelian randomization analyses using summary statistic data further indicated no evidence for an association between telomere length and TGCT risk among all available TECAC participants (3,558 cases and 13,971 controls). Conclusions: Our analyses in the largest molecular genetic testicular cancer study to date provide no evidence for an association between genetically inferred peripheral blood LTL and TGCT risk. Impact: The lack of evidence for an overall association indicates that peripheral blood LTL is likely not a strong biomarker for TGCT risk.
MeSH term(s)	Case-Control Studies ; Genetic Predisposition to Disease ; Humans ; Male ; Mendelian Randomization Analysis ; Neoplasms, Germ Cell and Embryonal/epidemiology ; Neoplasms, Germ Cell and Embryonal/genetics ; Risk Assessment/statistics & numerical data ; Risk Factors ; Telomere/metabolism ; Telomere Homeostasis/genetics ; Testicular Neoplasms/epidemiology ; Testicular Neoplasms/genetics
Language	English
Publishing date	2021-03-18
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't
ZDB-ID	1153420-5
ISSN	1538-7755 ; 1055-9965
ISSN (online)	1538-7755
ISSN	1055-9965
DOI	10.1158/1055-9965.EPI-20-1775
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Zs.A 3693: Show issues

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Article ; Online: Corrigendum: Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.

Loveday, Chey / Tatton-Brown, Katrina / Clarke, Matthew / Westwood, Isaac / Renwick, Anthony / Ramsay, Emma / Nemeth, Andrea / Campbell, Jennifer / Joss, Shelagh / Gardner, McKinlay / Zachariou, Anna / Elliott, Anna / Ruark, Elise / Montfort, Rob van / Rahman, Nazneen

Human molecular genetics

2019 Volume 28, Issue 9, Page(s) 1578

Language	English
Publishing date	2019-01-07
Publishing country	England
Document type	Journal Article ; Published Erratum
ZDB-ID	1108742-0
ISSN	1460-2083 ; 0964-6906
ISSN (online)	1460-2083
ISSN	0964-6906
DOI	10.1093/hmg/ddy424
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Zs.A 3469: Show issues

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Article ; Online: Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.

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

2021 Volume 24, Issue 3, Page(s) 552–563

Abstract: Purpose: Conditions and thresholds applied for evidence weighting of within-codon concordance (PM5) for pathogenicity vary widely between laboratories and expert groups. Because of the sparseness of available clinical classifications, there is little ... ...

Abstract	Purpose: Conditions and thresholds applied for evidence weighting of within-codon concordance (PM5) for pathogenicity vary widely between laboratories and expert groups. Because of the sparseness of available clinical classifications, there is little evidence for variation in practice. Methods: We used as a truthset 7541 dichotomous functional classifications of BRCA1 and MSH2, spanning 311 codons of BRCA1 and 918 codons of MSH2, generated from large-scale functional assays that have been shown to correlate excellently with clinical classifications. We assessed PM5 at 5 stringencies with incorporation of 8 in silico tools. For each analysis, we quantified a positive likelihood ratio (pLR, true positive rate/false positive rate), the predictive value of PM5-lookup in ClinVar compared with the functional truthset. Results: pLR was 16.3 (10.6-24.9) for variants for which there was exactly 1 additional colocated deleterious variant on ClinVar, and the variant under examination was equally or more damaging when analyzed using BLOSUM62. pLR was 71.5 (37.8-135.3) for variants for which there were 2 or more colocated deleterious ClinVar variants, and the variant under examination was equally or more damaging than at least 1 colocated variant when analyzed using BLOSUM62. Conclusion: These analyses support the graded use of PM5, with potential to use it at higher evidence weighting where more stringent criteria are met.
MeSH term(s)	BRCA1 Protein/genetics ; Codon ; Genetic Predisposition to Disease ; Genetic Variation/genetics ; Humans ; MutS Homolog 2 Protein/genetics ; Mutation, Missense/genetics
Chemical Substances	BRCA1 Protein ; BRCA1 protein, human ; Codon ; MSH2 protein, human (EC 3.6.1.3) ; MutS Homolog 2 Protein (EC 3.6.1.3)
Language	English
Publishing date	2021-11-18
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1455352-1
ISSN	1530-0366 ; 1098-3600
ISSN (online)	1530-0366
ISSN	1098-3600
DOI	10.1016/j.gim.2021.11.011
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Zs.A 5059: Show issues

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Article ; Online: Large-scale Sequencing of Testicular Germ Cell Tumour (TGCT) Cases Excludes Major TGCT Predisposition Gene.

Litchfield, Kevin / Loveday, Chey / Levy, Max / Dudakia, Darshna / Rapley, Elizabeth / Nsengimana, Jeremie / Bishop, D Tim / Reid, Alison / Huddart, Robert / Broderick, Peter / Houlston, Richard S / Turnbull, Clare

European urology

2018 Volume 73, Issue 6, Page(s) 828–831

Abstract: Testicular germ cell tumour (TGCT), the most common cancer in young men, has a significant heritable basis that has long raised questions as to the existence of underlying major high-penetrance susceptibility gene(s). To determine the contribution of ... ...

Abstract	Testicular germ cell tumour (TGCT), the most common cancer in young men, has a significant heritable basis that has long raised questions as to the existence of underlying major high-penetrance susceptibility gene(s). To determine the contribution of rare gene mutations to the inherited risk of TGCT, we analysed germline whole-exome data for 919 TGCT cases and 1609 cancer-free controls. We compared frequencies between TGCT cases and controls of rare (<1%) and low-frequency (1-5%) coding variants (1) individually and (2) collapsed at the gene level via burden testing (T1, disruptive; T2, all deleterious; and T3, all nonsynonymous) using Fisher's exact test with Bonferroni correction of significance thresholds. No individual variant or individual gene showed a significant association with TGCT after correction for multiple testing. In the largest whole-exome sequencing study of testicular cancer reported to date, our findings do not support the existence of a major high-penetrance TGCT susceptibility gene (of odds ratio >10 and allele frequency [combined]>0.01%). Owing to its power, this study cannot exclude the existence of susceptibility genes responsible for occasional TGCT families or of rare mutations that confer very modest relative risks. In concert with findings from genome-wide association studies, our data support the notion that inherited susceptibility is largely polygenic with substantial contribution from common variation. Patient summary: In the largest study of its kind, we sequenced ∼20 000 genes in 919 men with testicular germ cell tumour (TGCT) and 1609 TGCT-free individuals and found no evidence of a single major gene underlying predisposition to TGCT (in the manner of BRCA1 for breast cancer). Instead, familial risk of TGCT is likely to be due to varying dosages of hundreds of minor genetic factors.
MeSH term(s)	Case-Control Studies ; Gene Frequency ; Genetic Predisposition to Disease/genetics ; Humans ; Male ; Mutation ; Neoplasms, Germ Cell and Embryonal/genetics ; Penetrance ; Risk Factors ; Testicular Neoplasms/genetics ; Exome Sequencing
Language	English
Publishing date	2018-02-09
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	193790-x
ISSN	1873-7560 ; 1421-993X ; 0302-2838
ISSN (online)	1873-7560 ; 1421-993X
ISSN	0302-2838
DOI	10.1016/j.eururo.2018.01.021
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Zs.A 1247: 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)
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Article ; Online: Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients.

Ostrowski, Philip J / Zachariou, Anna / Loveday, Chey / Baralle, Diana / Blair, Edward / Douzgou, Sofia / Field, Michael / Foster, Alison / Kyle, Claire / Lachlan, Katherine / Mansour, Sahar / Naik, Swati / Rea, Gillian / Smithson, Sarah / Sznajer, Yves / Thompson, Elizabeth / Cole, Trevor / Tatton-Brown, Katrina

American journal of medical genetics. Part C, Seminars in medical genetics

2019 Volume 181, Issue 4, Page(s) 638–643

Abstract: BRWD3 has been described as a cause of X-linked intellectual disability, but relatively little is known about the specific phenotype. We report the largest BRWD3 patient series to date, comprising 17 males with 12 distinct null variants and 2 partial ... ...

Abstract	BRWD3 has been described as a cause of X-linked intellectual disability, but relatively little is known about the specific phenotype. We report the largest BRWD3 patient series to date, comprising 17 males with 12 distinct null variants and 2 partial gene deletions. All patients presented with intellectual disability, which was classified as moderate (65%) or mild (35%). Behavioral issues were present in 75% of patients, including aggressive behavior, attention deficit/hyperactivity and/or autistic spectrum disorders. Mean head circumference was +2.8 SD (2.8 standard deviations above the mean), and mean BMI was +2.0 SD (in the context of a mean height of +1.3 SD), indicating a predominant macrocephaly/obesity phenotype. Shared facial features included a tall chin, prognathism, broad forehead, and prominent supraorbital ridge. Additional features, reported in a minority (<30%) of patients included cryptorchidism, neonatal hypotonia, and small joint hypermobility. This study delineates the clinical features associated with BRWD3 null variants and partial gene deletions, and suggests that BRWD3 should be included in the differential diagnosis of patients with an overgrowth-intellectual disability (OGID) phenotype, particularly in male patients with a mild or moderate intellectual disability associated with macrocephaly and/or obesity.
MeSH term(s)	Adolescent ; Child ; Gene Deletion ; Genetic Diseases, X-Linked/genetics ; Humans ; Intellectual Disability/genetics ; Male ; Megalencephaly/genetics ; Obesity/genetics ; Severity of Illness Index ; Syndrome ; Transcription Factors/genetics
Chemical Substances	BRWD3 protein, human ; Transcription Factors
Language	English
Publishing date	2019-11-12
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2108622-9
ISSN	1552-4876 ; 0148-7299 ; 1552-4868
ISSN (online)	1552-4876
ISSN	0148-7299 ; 1552-4868
DOI	10.1002/ajmg.c.31750
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Article ; Online: EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome.

Griffiths, Sara / Loveday, Chey / Zachariou, Anna / Behan, Lucy-Ann / Chandler, Kate / Cole, Trevor / D'Arrigo, Stefano / Dieckmann, Andrea / Foster, Alison / Gibney, James / Hunter, Matthew / Milani, Donatella / Pantaleoni, Chiara / Roche, Edna / Sherlock, Mark / Springer, Amanda / White, Susan M / Tatton-Brown, Katrina

American journal of medical genetics. Part A

2019 Volume 179, Issue 4, Page(s) 588–594

Abstract: Overgrowth-intellectual disability (OGID) syndromes are characterized by increased growth (height and/or head circumference ≥+2 SD) in association with an intellectual disability. Constitutive EED variants have previously been reported in five ... ...

Abstract	Overgrowth-intellectual disability (OGID) syndromes are characterized by increased growth (height and/or head circumference ≥+2 SD) in association with an intellectual disability. Constitutive EED variants have previously been reported in five individuals with an OGID syndrome, eponymously designated Cohen-Gibson syndrome and resembling Weaver syndrome. Here, we report three additional individuals with constitutive EED variants, identified through exome sequencing of an OGID patient series. We compare the EED phenotype with that of Weaver syndrome (56 individuals), caused by constitutive EZH2 variants. We conclude that while there is considerable overlap between the EED and EZH2 phenotypes with both characteristically associated with increased growth and an intellectual disability, individuals with EED variants more frequently have cardiac problems and cervical spine abnormalities, boys have cryptorchidism and the facial gestalts can usually be distinguished.
MeSH term(s)	Abnormalities, Multiple/genetics ; Abnormalities, Multiple/pathology ; Adult ; Child ; Congenital Hypothyroidism/genetics ; Congenital Hypothyroidism/pathology ; Craniofacial Abnormalities/genetics ; Craniofacial Abnormalities/pathology ; Developmental Disabilities/genetics ; Developmental Disabilities/pathology ; Enhancer of Zeste Homolog 2 Protein/genetics ; Female ; Fingers/abnormalities ; Fingers/pathology ; Growth Disorders/genetics ; Growth Disorders/pathology ; Hand Deformities, Congenital/genetics ; Hand Deformities, Congenital/pathology ; Humans ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Male ; Microcephaly/genetics ; Microcephaly/pathology ; Muscle Hypotonia/genetics ; Muscle Hypotonia/pathology ; Mutation ; Myopia/genetics ; Myopia/pathology ; Obesity/genetics ; Obesity/pathology ; Phenotype ; Polycomb Repressive Complex 2/genetics ; Retinal Degeneration/genetics ; Retinal Degeneration/pathology ; Whole Exome Sequencing ; Young Adult
Chemical Substances	EED protein, human ; EZH2 protein, human (EC 2.1.1.43) ; Enhancer of Zeste Homolog 2 Protein (EC 2.1.1.43) ; Polycomb Repressive Complex 2 (EC 2.1.1.43)
Language	English
Publishing date	2019-02-21
Publishing country	United States
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.61066
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Article ; Online: Genomic landscape of platinum resistant and sensitive testicular cancers.

Loveday, Chey / Litchfield, Kevin / Proszek, Paula Z / Cornish, Alex J / Santo, Flavia / Levy, Max / Macintyre, Geoff / Holryod, Amy / Broderick, Peter / Dudakia, Darshna / Benton, Barbara / Bakir, Maise Al / Hiley, Crispin / Grist, Emily / Swanton, Charles / Huddart, Robert / Powles, Tom / Chowdhury, Simon / Shipley, Janet /

O'Connor, Simon / Brenton, James D / Reid, Alison / de Castro, David Gonzalez / Houlston, Richard S / Turnbull, Clare

Nature communications

2020 Volume 11, Issue 1, Page(s) 2189

Abstract: While most testicular germ cell tumours (TGCTs) exhibit exquisite sensitivity to platinum chemotherapy, ~10% are platinum resistant. To gain insight into the underlying mechanisms, we undertake whole exome sequencing and copy number analysis in 40 ... ...

Abstract	While most testicular germ cell tumours (TGCTs) exhibit exquisite sensitivity to platinum chemotherapy, ~10% are platinum resistant. To gain insight into the underlying mechanisms, we undertake whole exome sequencing and copy number analysis in 40 tumours from 26 cases with platinum-resistant TGCT, and combine this with published genomic data on an additional 624 TGCTs. We integrate analyses for driver mutations, mutational burden, global, arm-level and focal copy number (CN) events, and SNV and CN signatures. Albeit preliminary and observational in nature, these analyses provide support for a possible mechanistic link between early driver mutations in RAS and KIT and the widespread copy number events by which TGCT is characterised.
MeSH term(s)	DNA Copy Number Variations ; Drug Resistance, Neoplasm/drug effects ; Genetic Predisposition to Disease/genetics ; Genomics/methods ; Humans ; Male ; Mutation ; Neoplasms, Germ Cell and Embryonal/drug therapy ; Neoplasms, Germ Cell and Embryonal/genetics ; Neoplasms, Germ Cell and Embryonal/metabolism ; Organoplatinum Compounds/therapeutic use ; Platinum/therapeutic use ; Proto-Oncogene Proteins c-kit/genetics ; Proto-Oncogene Proteins c-kit/metabolism ; Signal Transduction/genetics ; Testicular Neoplasms/drug therapy ; Testicular Neoplasms/genetics ; Testicular Neoplasms/metabolism ; Exome Sequencing/methods ; ras Proteins/genetics ; ras Proteins/metabolism
Chemical Substances	Organoplatinum Compounds ; Platinum (49DFR088MY) ; Proto-Oncogene Proteins c-kit (EC 2.7.10.1) ; ras Proteins (EC 3.6.5.2)
Language	English
Publishing date	2020-05-04
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2553671-0
ISSN	2041-1723 ; 2041-1723
ISSN (online)	2041-1723
ISSN	2041-1723
DOI	10.1038/s41467-020-15768-x
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In stock of ZB MED Cologne/Königswinter

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In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito