Data from High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer Article Swipe

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Illja J. Diets , Esmé Waanders , Marjolijn J. L. Ligtenberg , Diede A.G. van Bladel , Eveline J. Kamping , Peter M. Hoogerbrugge , Saskia Hopman , Maran J. Olderode-Berends , Erica H. Gerkes , David A. Koolen , Carlo Marcelis , Gijs W.E. Santen , Martine J. van Belzen , Dylan Mordaunt , Lesley McGregor , Elizabeth Thompson , Antonis Kattamis , Agata Pastorczak , Wojciech Młynarski , Denisa Ilenčíková , Anneke Vulto- van Silfhout , Thatjana Gardeitchik , Eveline S. de Bont , Jan Loeffen , Anja Wagner , Arjen R. Mensenkamp , Roland P. Kuiper , Nicoline Hoogerbrugge , Marjolijn C.J. Jongmans ·

YOU? · · 2023 · Open Access · · DOI: https://doi.org/10.1158/1078-0432.c.6526064

Purpose: In many children with cancer and characteristics suggestive of a genetic predisposition syndrome, the genetic cause is still unknown. We studied the yield of pathogenic mutations by applying whole-exome sequencing on a selected cohort of children with cancer.Experimental Design: To identify mutations in known and novel cancer-predisposing genes, we performed trio-based whole-exome sequencing on germline DNA of 40 selected children and their parents. These children were diagnosed with cancer and had at least one of the following features: (1) intellectual disability and/or congenital anomalies, (2) multiple malignancies, (3) family history of cancer, or (4) an adult type of cancer. We first analyzed the sequence data for germline mutations in 146 known cancer-predisposing genes. If no causative mutation was found, the analysis was extended to the whole exome.Results: Four patients carried causative mutations in a known cancer-predisposing gene: TP53 and DICER1 (n = 3). In another 4 patients, exome sequencing revealed mutations causing syndromes that might have contributed to the malignancy (EP300-based Rubinstein–Taybi syndrome, ARID1A-based Coffin–Siris syndrome, ACTB-based Baraitser–Winter syndrome, and EZH2-based Weaver syndrome). In addition, we identified two genes, KDM3B and TYK2, which are possibly involved in genetic cancer predisposition.Conclusions: In our selected cohort of patients, pathogenic germline mutations causative or likely causative of the cancer phenotype were found in 8 patients, and two possible novel cancer-predisposing genes were identified. Therewith, our study shows the added value of sequencing beyond a cancer gene panel in selected patients, to recognize childhood cancer predisposition. Clin Cancer Res; 24(7); 1594–603. ©2018 AACR.

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Exome sequencing Cancer Germline Germline mutation Genetics Mutation Exome Gene Biology Medicine Cancer research

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Type: preprint
Language: en
Landing Page: https://doi.org/10.1158/1078-0432.c.6526064
OA Status: gold
Related Works: 10
OpenAlex ID: https://openalex.org/W4361946492

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DOI: https://doi.org/10.1158/1078-0432.c.6526064

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Title: Data from High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer

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Type: preprint

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Language: en

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Publication year: 2023

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Publication date: 2023-03-31

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Authors: Illja J. Diets, Esmé Waanders, Marjolijn J. L. Ligtenberg, Diede A.G. van Bladel, Eveline J. Kamping, Peter M. Hoogerbrugge, Saskia Hopman, Maran J. Olderode-Berends, Erica H. Gerkes, David A. Koolen, Carlo Marcelis, Gijs W.E. Santen, Martine J. van Belzen, Dylan Mordaunt, Lesley McGregor, Elizabeth Thompson, Antonis Kattamis, Agata Pastorczak, Wojciech Młynarski, Denisa Ilenčíková, Anneke Vulto- van Silfhout, Thatjana Gardeitchik, Eveline S. de Bont, Jan Loeffen, Anja Wagner, Arjen R. Mensenkamp, Roland P. Kuiper, Nicoline Hoogerbrugge, Marjolijn C.J. Jongmans

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Concepts: Exome sequencing, Cancer, Germline, Germline mutation, Genetics, Mutation, Exome, Gene, Biology, Medicine, Cancer research

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abstract_inverted_index.3).	151
abstract_inverted_index.DNA	56
abstract_inverted_index.and	6, 45, 61, 70, 147, 178, 189, 221
abstract_inverted_index.are	192
abstract_inverted_index.for	114
abstract_inverted_index.had	71
abstract_inverted_index.one	74
abstract_inverted_index.our	200, 230
abstract_inverted_index.the	14, 22, 76, 111, 128, 133, 167, 213, 233
abstract_inverted_index.two	186, 222
abstract_inverted_index.was	126, 130
abstract_inverted_index.Four	136
abstract_inverted_index.Res;	253
abstract_inverted_index.data	113
abstract_inverted_index.gene	241
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abstract_inverted_index.many	2
abstract_inverted_index.that	162
abstract_inverted_index.type	105
abstract_inverted_index.were	66, 216, 227
abstract_inverted_index.with	4, 37, 68
abstract_inverted_index.These	64
abstract_inverted_index.added	234
abstract_inverted_index.adult	104
abstract_inverted_index.cause	16
abstract_inverted_index.exome	156
abstract_inverted_index.first	109
abstract_inverted_index.found	217
abstract_inverted_index.gene:	145
abstract_inverted_index.genes	226
abstract_inverted_index.known	44, 119, 143
abstract_inverted_index.least	73
abstract_inverted_index.might	163
abstract_inverted_index.novel	46, 224
abstract_inverted_index.panel	242
abstract_inverted_index.shows	232
abstract_inverted_index.still	18
abstract_inverted_index.study	231
abstract_inverted_index.their	62
abstract_inverted_index.value	235
abstract_inverted_index.which	191
abstract_inverted_index.whole	134
abstract_inverted_index.yield	23
abstract_inverted_index.(<a	79, 87, 92, 100
abstract_inverted_index.24(7);	254
abstract_inverted_index.Cancer	252
abstract_inverted_index.Weaver	180
abstract_inverted_index.and/or	84
abstract_inverted_index.beyond	238
abstract_inverted_index.cancer	5, 69, 197, 214, 240, 249
abstract_inverted_index.cohort	34, 202
abstract_inverted_index.family	95
abstract_inverted_index.found,	127
abstract_inverted_index.genes,	48, 187
abstract_inverted_index.genes.	121
abstract_inverted_index.likely	210
abstract_inverted_index.©2018	256
abstract_inverted_index.another	153
abstract_inverted_index.cancer,	98
abstract_inverted_index.cancer.	107
abstract_inverted_index.carried	138
abstract_inverted_index.causing	160
abstract_inverted_index.genetic	11, 15, 196
abstract_inverted_index.history	96
abstract_inverted_index.studied	21
abstract_inverted_index.analysis	129
abstract_inverted_index.analyzed	110
abstract_inverted_index.applying	28
abstract_inverted_index.children	3, 36, 60, 65
abstract_inverted_index.extended	131
abstract_inverted_index.germline	55, 115, 206
abstract_inverted_index.identify	41
abstract_inverted_index.involved	194
abstract_inverted_index.multiple	90
abstract_inverted_index.mutation	125
abstract_inverted_index.parents.	63
abstract_inverted_index.patients	137
abstract_inverted_index.possible	223
abstract_inverted_index.possibly	193
abstract_inverted_index.revealed	158
abstract_inverted_index.selected	33, 59, 201, 244
abstract_inverted_index.sequence	112
abstract_inverted_index.unknown.	19
abstract_inverted_index.addition,	183
abstract_inverted_index.causative	124, 139, 208, 211
abstract_inverted_index.childhood	248
abstract_inverted_index.diagnosed	67
abstract_inverted_index.features:	78
abstract_inverted_index.following	77
abstract_inverted_index.mutations	26, 42, 116, 140, 159, 207
abstract_inverted_index.patients,	155, 204, 220, 245
abstract_inverted_index.performed	50
abstract_inverted_index.phenotype	215
abstract_inverted_index.recognize	247
abstract_inverted_index.syndrome,	13, 171, 174, 177
abstract_inverted_index.syndromes	161
abstract_inverted_index.Therewith,	229
abstract_inverted_index.anomalies,	86
abstract_inverted_index.congenital	85
abstract_inverted_index.disability	83
abstract_inverted_index.identified	185
abstract_inverted_index.malignancy	168
abstract_inverted_index.pathogenic	25, 205
abstract_inverted_index.sequencing	30, 53, 157, 237
abstract_inverted_index.suggestive	8
abstract_inverted_index.syndrome).	181
abstract_inverted_index.trio-based	51
abstract_inverted_index.1594–603.	255
abstract_inverted_index.contributed	165
abstract_inverted_index.identified.	228
abstract_inverted_index.whole-exome	29, 52
abstract_inverted_index.href="#bib1"	80
abstract_inverted_index.href="#bib2"	88
abstract_inverted_index.href="#bib3"	93
abstract_inverted_index.href="#bib4"	101
abstract_inverted_index.intellectual	82
abstract_inverted_index.<i>Clin	251
abstract_inverted_index.malignancies,	91
abstract_inverted_index.Coffin–Siris	173
abstract_inverted_index.predisposition	12
abstract_inverted_index.characteristics	7
abstract_inverted_index.predisposition.	250
abstract_inverted_index.Design:</b>	39
abstract_inverted_index.Baraitser–Winter	176
abstract_inverted_index.Rubinstein–Taybi	170
abstract_inverted_index.cancer-predisposing	47, 120, 144, 225
abstract_inverted_index.(<i>n</i>	149
abstract_inverted_index.<i>TP53</i>	146
abstract_inverted_index.<i>KDM3B</i>	188
abstract_inverted_index.<i>TYK2</i>,	190
abstract_inverted_index.<i>DICER1</i>	148
abstract_inverted_index.<i>ACTB</i>-based	175
abstract_inverted_index.<i>EZH2</i>-based	179
abstract_inverted_index.<i>ARID1A</i>-based	172
abstract_inverted_index.(<i>EP300</i>-based	169
abstract_inverted_index.target="_blank">1</a>)	81
abstract_inverted_index.target="_blank">2</a>)	89
abstract_inverted_index.target="_blank">3</a>)	94
abstract_inverted_index.target="_blank">4</a>)	102
abstract_inverted_index.AACR</i>.</p></div>	257
abstract_inverted_index.cancer.</p><p><b>Experimental	38
abstract_inverted_index.exome.</p><p><b>Results:</b>	135
abstract_inverted_index.<div>Abstract<p><b>Purpose:</b>	0
abstract_inverted_index.predisposition.</p><p><b>Conclusions:</b>	198
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