GTS5:Ataxia-telangiectasia syndrome (ATM) - Revision history

Richard.Glen at 18:37, 3 February 2026

2026-02-03T18:37:40Z

Richard.Glen: Removed redirect to BRST5:Ataxia-telangiectasia

2026-02-03T18:35:50Z

Removed redirect to BRST5:Ataxia-telangiectasia

← Older revision		Revision as of 13:35, 3 February 2026
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	~~#REDIRECT~~[[~~BRST5~~: ~~Ataxia-telangiectasia~~]]		owledged below as a prior author. \n\nPrior Author(s): \u00a0\n[[Category:GTS5]][[Category:DISEASE]]"}}}

Richard.Glen: Redirected page to BRST5:Ataxia-telangiectasia

2026-02-03T18:30:08Z

Redirected page to BRST5:Ataxia-telangiectasia

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Emilie.Lalonde: added more info and references, gene/pathways table pending

2026-01-06T16:26:49Z

added more info and references, gene/pathways table pending

Show changes

Emilie.Lalonde: initial description of ATM features

2026-01-02T20:49:26Z

initial description of ATM features

← Older revision		Revision as of 15:49, 2 January 2026
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	<span style="color:#0070C0">(''General Instructions – The focus of these pages is the clinically significant genetic alterations in each disease type. This is based on up-to-date knowledge from multiple resources such as PubMed and the WHO classification books. The CCGA is meant to be a supplemental resource to the WHO classification books; the CCGA captures in a continually updated wiki-stye manner the current genetics/genomics knowledge of each disease, which evolves more rapidly than books can be revised and published. If the same disease is described in multiple WHO classification books, the genetics-related information for that disease will be consolidated into a single main page that has this template (other pages would only contain a link to this main page). Use [https://www.genenames.org/ <u>HUGO-approved gene names and symbols</u>] (italicized when appropriate), [https://varnomen.hgvs.org/ <u>HGVS-based nomenclature for variants</u>], as well as generic names of drugs and testing platforms or assays if applicable. Please complete tables whenever possible and do not delete them (add N/A if not applicable in the table and delete the examples); to add (or move) a row or column in a table, click nearby within the table and select the > symbol that appears. Please do not delete or alter the section headings. The use of bullet points alongside short blocks of text rather than only large paragraphs is encouraged. Additional instructions below in italicized blue text should not be included in the final page content. Please also see'' </span><u>''[[Author_Instructions]]''</u><span style="color:#0070C0"> ''and [[Frequently Asked Questions (FAQs)\|<u>FAQs</u>]] as well as contact your [[Leadership\|<u>Associate Editor</u>]] or [mailto:CCGA@cancergenomics.org <u>Technical Support</u>].)''</span>		<span style="color:#0070C0">(''General Instructions – The focus of these pages is the clinically significant genetic alterations in each disease type. This is based on up-to-date knowledge from multiple resources such as PubMed and the WHO classification books. The CCGA is meant to be a supplemental resource to the WHO classification books; the CCGA captures in a continually updated wiki-stye manner the current genetics/genomics knowledge of each disease, which evolves more rapidly than books can be revised and published. If the same disease is described in multiple WHO classification books, the genetics-related information for that disease will be consolidated into a single main page that has this template (other pages would only contain a link to this main page). Use [https://www.genenames.org/ <u>HUGO-approved gene names and symbols</u>] (italicized when appropriate), [https://varnomen.hgvs.org/ <u>HGVS-based nomenclature for variants</u>], as well as generic names of drugs and testing platforms or assays if applicable. Please complete tables whenever possible and do not delete them (add N/A if not applicable in the table and delete the examples); to add (or move) a row or column in a table, click nearby within the table and select the > symbol that appears. Please do not delete or alter the section headings. The use of bullet points alongside short blocks of text rather than only large paragraphs is encouraged. Additional instructions below in italicized blue text should not be included in the final page content. Please also see'' </span><u>''[[Author_Instructions]]''</u><span style="color:#0070C0"> ''and [[Frequently Asked Questions (FAQs)\|<u>FAQs</u>]] as well as contact your [[Leadership\|<u>Associate Editor</u>]] or [mailto:CCGA@cancergenomics.org <u>Technical Support</u>].)''</span>
	==Primary Author(s)*==		==Primary Author(s)*==
	~~Put your text here<span style="color:#0070C0"> (''<span class="blue-text">EXAMPLE:</span>'' Jane Smith~~, PhD~~) </span>~~		Emilie Lalonde, MSc, PhD, FACMG
	==WHO Classification of Disease==		==WHO Classification of Disease==

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	==Definition/Description of Disease==		==Definition/Description of Disease==
	~~Put your text here~~ <span style="color:#0070C0">(''Instructions: Include a brief general clinical description, diagnostic criteria, and differential diagnosis if applicable. Include disease context relative to other WHO classification categories, i.e. describe any information relevant to the genetic aspects of the disease from all WHO classification books in which the syndrome is described.'')</span>		- The ATM gene is located on 11q22.3 and contains 66 exons. It encodes the ATM protein, which is a key regulator of DNA damage repair and cell cycle control pathways.

			- Heterozygous pathogenic germline variants are associated with autosomal dominant ATM-related cancer predisposition, which increases susceptibility to a range of hereditary cancers, most notable breast, prostate and pancreatic cancers. ATM is considered a moderate penetrance cancer predisposition gene, with a 2-3 fold increase in breast cancer risk compared to the general population with an absolute risk of 21-24% <ref name=":0">{{Cite journal\|last=Pal\|first=Tuya\|last2=Schon\|first2=Katherine R.\|last3=Astiazaran-Symonds\|first3=Esteban\|last4=Balmaña\|first4=Judith\|last5=Foulkes\|first5=William D.\|last6=James\|first6=Paul\|last7=Klugman\|first7=Susan\|last8=Livinski\|first8=Alicia A.\|last9=Mak\|first9=Julie S.\|date=2025-01\|title=Management of individuals with heterozygous germline pathogenic variants in ATM: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)\|url=https://linkinghub.elsevier.com/retrieve/pii/S1098360024001771\|journal=Genetics in Medicine\|language=en\|volume=27\|issue=1\|pages=101243\|doi=10.1016/j.gim.2024.101243}}</ref><ref name=":1">NCCN Guidelines Version 3.2025, Genetic/Familial High-Risk Assessment: Breast, Ovarian, Pancreatic, and Prostate.</ref>. ATM has also been associated with predisposition to ovarian cancer, colorectal cancer and melanoma, but additional confirmatory studies are needed<ref name=":0" /><ref name=":1" />.

			- Biallelic pathogenic germline variants are associated with autosomal recessive ataxia telangiectasia (AT), a multisystem neurodegenerative disorder. Individuals with AT are at significantly increased risk of lymphoid malignancies in childhood or early adulthood as well as early-onset breast cancer.

			<span style="color:#0070C0">(''Instructions: Include a brief general clinical description, diagnostic criteria, and differential diagnosis if applicable. Include disease context relative to other WHO classification categories, i.e. describe any information relevant to the genetic aspects of the disease from all WHO classification books in which the syndrome is described.'')</span>

	==Epidemiology/Prevalence==		==Epidemiology/Prevalence==
	~~Put your text here~~		- The incidence of heterozygous pathogenic germline variants is estimated to range from approximately 1:100 to 1:400, depending on the population<ref name=":0" />

	==Genetic Abnormalities: Germline==		==Genetic Abnormalities: Germline==
	Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Describe germline alteration(s) that cause the syndrome. In the notes, include additional details about most common mutations including founder mutations, mechanisms of molecular pathogenesis, alteration-specific prognosis and any other important genetics-related information. If multiple causes of the syndrome, include relative prevalence of genetic contributions to that syndrome. Please include references throughout the table. Do not delete the table.'')</span>		Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Describe germline alteration(s) that cause the syndrome. In the notes, include additional details about most common mutations including founder mutations, mechanisms of molecular pathogenesis, alteration-specific prognosis and any other important genetics-related information. If multiple causes of the syndrome, include relative prevalence of genetic contributions to that syndrome. Please include references throughout the table. Do not delete the table.'')</span>

Bailey.Glen at 21:11, 25 May 2025

2025-05-25T21:11:05Z

← Older revision		Revision as of 16:11, 25 May 2025
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	==Related Terminology==		==Related Terminology==
	~~<span style="color:#0070C0">(''Instructions: This table will have the related terminology from the WHO book <u>autocompleted</u>.)''</span>~~
	{\| class="wikitable"		{\| class="wikitable"
	\|+		\|+
	\|Acceptable		\|Acceptable
	\|		\|N/A
	\|-		\|-
	\|Not Recommended		\|Not Recommended
	\|		\|N/A
	\|}		\|}
			Other: Boder-Sedgwick syndrome


	==Definition/Description of Disease==		==Definition/Description of Disease==

Bailey.Glen at 19:57, 25 May 2025

2025-05-25T19:57:01Z

← Older revision		Revision as of 14:57, 25 May 2025
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			[[GTS5:Table_of_Contents\|Genetic Tumour Syndromes (Who Classification, 5th ed.)]]
	{{Under Construction}}		{{Under Construction}}
	<span style="color:#0070C0">(''General Instructions – The focus of these pages is the clinically significant genetic alterations in each disease type. This is based on up-to-date knowledge from multiple resources such as PubMed and the WHO classification books. The CCGA is meant to be a supplemental resource to the WHO classification books; the CCGA captures in a continually updated wiki-stye manner the current genetics/genomics knowledge of each disease, which evolves more rapidly than books can be revised and published. If the same disease is described in multiple WHO classification books, the genetics-related information for that disease will be consolidated into a single main page that has this template (other pages would only contain a link to this main page). Use [https://www.genenames.org/ <u>HUGO-approved gene names and symbols</u>] (italicized when appropriate), [https://varnomen.hgvs.org/ <u>HGVS-based nomenclature for variants</u>], as well as generic names of drugs and testing platforms or assays if applicable. Please complete tables whenever possible and do not delete them (add N/A if not applicable in the table and delete the examples); to add (or move) a row or column in a table, click nearby within the table and select the > symbol that appears. Please do not delete or alter the section headings. The use of bullet points alongside short blocks of text rather than only large paragraphs is encouraged. Additional instructions below in italicized blue text should not be included in the final page content. Please also see'' </span><u>''[[Author_Instructions]]''</u><span style="color:#0070C0"> ''and [[Frequently Asked Questions (FAQs)\|<u>FAQs</u>]] as well as contact your [[Leadership\|<u>Associate Editor</u>]] or [mailto:CCGA@cancergenomics.org <u>Technical Support</u>].)''</span>		<span style="color:#0070C0">(''General Instructions – The focus of these pages is the clinically significant genetic alterations in each disease type. This is based on up-to-date knowledge from multiple resources such as PubMed and the WHO classification books. The CCGA is meant to be a supplemental resource to the WHO classification books; the CCGA captures in a continually updated wiki-stye manner the current genetics/genomics knowledge of each disease, which evolves more rapidly than books can be revised and published. If the same disease is described in multiple WHO classification books, the genetics-related information for that disease will be consolidated into a single main page that has this template (other pages would only contain a link to this main page). Use [https://www.genenames.org/ <u>HUGO-approved gene names and symbols</u>] (italicized when appropriate), [https://varnomen.hgvs.org/ <u>HGVS-based nomenclature for variants</u>], as well as generic names of drugs and testing platforms or assays if applicable. Please complete tables whenever possible and do not delete them (add N/A if not applicable in the table and delete the examples); to add (or move) a row or column in a table, click nearby within the table and select the > symbol that appears. Please do not delete or alter the section headings. The use of bullet points alongside short blocks of text rather than only large paragraphs is encouraged. Additional instructions below in italicized blue text should not be included in the final page content. Please also see'' </span><u>''[[Author_Instructions]]''</u><span style="color:#0070C0"> ''and [[Frequently Asked Questions (FAQs)\|<u>FAQs</u>]] as well as contact your [[Leadership\|<u>Associate Editor</u>]] or [mailto:CCGA@cancergenomics.org <u>Technical Support</u>].)''</span>
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	Put your text here<span style="color:#0070C0"> (''<span class="blue-text">EXAMPLE:</span>'' Jane Smith, PhD) </span>		Put your text here<span style="color:#0070C0"> (''<span class="blue-text">EXAMPLE:</span>'' Jane Smith, PhD) </span>
	==WHO Classification of Disease==		==WHO Classification of Disease==
	~~<span style="color:#0070C0">(''Instructions: This table’s content from the WHO book will be <u>autocompleted</u>.'')</span>~~
	{\| class="wikitable"		{\| class="wikitable"
	!Structure		!Structure
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	\|-		\|-
	\|Book		\|Book
	\|		\|Genetic Tumour Syndromes (5th ed.)
	\|-		\|-
	\|Category		\|Category
	\|		\|DNA repair and genomic stability
	\|-		\|-
	\|Family		\|Family
	\|		\|Non-homologous end joining (NHEJ)
	\|-		\|-
	\|Type		\|Type
	\|		\|Ataxia-telangiectasia syndrome (ATM)
	\|-		\|-
	\|Subtype(s)		\|Subtype(s)
	\|		\|N/A
	\|}		\|}

	==Related Terminology==		==Related Terminology==
	<span style="color:#0070C0">(''Instructions: This table will have the related terminology from the WHO book <u>autocompleted</u>.)''</span>		<span style="color:#0070C0">(''Instructions: This table will have the related terminology from the WHO book <u>autocompleted</u>.)''</span>

Jennelleh at 22:25, 29 December 2024

2024-12-29T22:25:50Z

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Jennelleh at 20:02, 12 July 2024

2024-07-12T20:02:05Z

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Jennelleh: Jennelleh moved page Ataxia-Telangiectasia Syndrome (ATM) to GTS5:Ataxia-telangiectasia syndrome (ATM) without leaving a redirect: Move to GTS5

2024-02-25T18:42:53Z

Jennelleh moved page Ataxia-Telangiectasia Syndrome (ATM) to GTS5:Ataxia-telangiectasia syndrome (ATM) without leaving a redirect: Move to GTS5

← Older revision		Revision as of 13:42, 25 February 2024
(No difference)