Li-Fraumeni syndrome - Revision history

Michael: /* See also */

2018-03-19T15:29:16Z

Michael: +dx cat.

2012-03-30T16:12:38Z

+dx cat.

← Older revision		Revision as of 16:12, 30 March 2012
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	[[Category:Syndromes]]		[[Category:Syndromes]]
			[[Category:Diagnosis]]

Michael: /* Associated cancers */

2012-03-30T16:06:22Z

Associated cancers

← Older revision		Revision as of 16:06, 30 March 2012
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	The alternate name '''SBLA syndrome''' is a ''mnemonic'':<ref name=omim151623>{{OMIM\|151623}}</ref>		The alternate name '''SBLA syndrome''' is a ''mnemonic'':<ref name=omim151623>{{OMIM\|151623}}</ref>
	*[[Sarcoma\|'''S'''arcomas]].		*[[Sarcoma\|'''S'''arcomas]].
	*[[Invasive breast cancer\|'''B'''~~rest~~ cancer]].		*[[Invasive breast cancer\|'''B'''reast cancer]].
	*[[brain tumours\|'''B'''rain tumours]].		*[[brain tumours\|'''B'''rain tumours]].
	*[[leukemia\|'''L'''eukemia]].		*[[leukemia\|'''L'''eukemia]].
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	*[[Lung cancer\|'''L'''ung cancer]].		*[[Lung cancer\|'''L'''ung cancer]].
	*[[Adrenal cortical carcinoma\|'''A'''drenal cortical carcinoma]].		*[[Adrenal cortical carcinoma\|'''A'''drenal cortical carcinoma]].


	==Li-Fraumeni variant==		==Li-Fraumeni variant==

Michael: +alt name

2012-03-30T16:05:11Z

+alt name

← Older revision		Revision as of 16:05, 30 March 2012
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	'''Li-Fraumeni syndrome''' is due to germline mutations in the gene TP53 (p53),<ref name=omim191170>{{OMIM\|191170}}</ref> an important regulator of [[apoptosis]] and the cell cycle, i.e. cell division. It is implicated in a very large number of sporadic cancer.		'''Li-Fraumeni syndrome''', also known as '''SBLA syndrome''', is due to germline mutations in the gene TP53 (p53),<ref name=omim191170>{{OMIM\|191170}}</ref> an important regulator of [[apoptosis]] and the cell cycle, i.e. cell division. It is implicated in a very large number of sporadic cancer.

	Individuals with Li-Fraumeni syndrome are predisposed to cancer. TP53 is considered to be a tumour suppressor and like most tumour suppressors, inheritance is autosomal dominant.		Individuals with Li-Fraumeni syndrome are predisposed to cancer. TP53 is considered to be a tumour suppressor and like most tumour suppressors, inheritance is autosomal dominant.
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	*Acute [[leukemia]].<ref name=emed987356ov/>		*Acute [[leukemia]].<ref name=emed987356ov/>
	*[[Soft tissue lesions\|Soft tissue sarcomas]].<ref name=emed987356ov/>		*[[Soft tissue lesions\|Soft tissue sarcomas]].<ref name=emed987356ov/>

			The alternate name '''SBLA syndrome''' is a ''mnemonic'':<ref name=omim151623>{{OMIM\|151623}}</ref>
			*[[Sarcoma\|'''S'''arcomas]].
			*[[Invasive breast cancer\|'''B'''rest cancer]].
			*[[brain tumours\|'''B'''rain tumours]].
			*[[leukemia\|'''L'''eukemia]].
			*'''L'''aryngeal carcinoma.
			*[[Lung cancer\|'''L'''ung cancer]].
			*[[Adrenal cortical carcinoma\|'''A'''drenal cortical carcinoma]].


	==Li-Fraumeni variant==		==Li-Fraumeni variant==
	A germline mutation in CHEK2<ref name=omim604373>{{OMIM\|604373}}</ref> is considered to be a '''Li-Fraumeni variant''', as it interacts with TP53 and BRCA1.		A germline mutation in CHEK2<ref name=omim604373>{{OMIM\|604373}}</ref> is considered to be a '''Li-Fraumeni variant''', as it interacts with TP53 and BRCA1.

	CHEK2 mutations are most strongly associated with [[breast cancer]] and [[colon cancer]]; thus, it is also known as ''hereditary breast & colorectal cancer'' (HBCC).<ref name=omim604373/> In addition to breast and colon cancers, it has also been associated with prostate, kidney and thyroid cancer.<ref>{{Ref PCPBoD8\|545}}</ref>		CHEK2 mutations are most strongly associated with [[breast cancer]] and [[colon cancer]]; thus, it is also known as ''hereditary breast & colorectal cancer'' (HBCC).<ref name=omim604373/> In addition to breast and colon cancers, it has also been associated with prostate, kidney and thyroid cancer.<ref name=Ref_PCPBoD8_545>{{Ref PCPBoD8\|545}}</ref>

	''CHEK2'' associated cancers in a list:		''CHEK2'' associated cancers in a list:

Michael: /* Li-Fraumeni variant */

2011-09-25T23:20:53Z

Li-Fraumeni variant

← Older revision		Revision as of 23:20, 25 September 2011
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	==Li-Fraumeni variant==		==Li-Fraumeni variant==
	A germline mutation in CHEK2<ref name=omim604373>{{OMIM\|604373}}</ref> is considered to a '''Li-Fraumeni variant''', as it interacts with TP53 and BRCA1.		A germline mutation in CHEK2<ref name=omim604373>{{OMIM\|604373}}</ref> is considered to be a '''Li-Fraumeni variant''', as it interacts with TP53 and BRCA1.

	CHEK2 ~~mutation~~ are most strongly associated with [[breast cancer]] and [[colon cancer]]; thus, it is also known as		CHEK2 mutations are most strongly associated with [[breast cancer]] and [[colon cancer]]; thus, it is also known as ''hereditary breast & colorectal cancer'' (HBCC).<ref name=omim604373/> In addition to breast and colon cancers, it has also been associated with prostate, kidney and thyroid cancer.<ref>{{Ref PCPBoD8\|545}}</ref>
	hereditary breast & colorectal cancer (HBCC).<ref name=omim604373/> In addition to breast and colon cancers, it has also been associated with prostate and thyroid cancer.<ref>{{Ref PCPBoD8\|545}}</ref>

	''CHEK2'' associated cancers in a list:		''CHEK2'' associated cancers in a list:

Michael: /* Li-Fraumeni variant */

2011-09-24T17:51:09Z

Li-Fraumeni variant

← Older revision		Revision as of 17:51, 24 September 2011
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	hereditary breast & colorectal cancer (HBCC).<ref name=omim604373/> In addition to breast and colon cancers, it has also been associated with prostate and thyroid cancer.<ref>{{Ref PCPBoD8\|545}}</ref>		hereditary breast & colorectal cancer (HBCC).<ref name=omim604373/> In addition to breast and colon cancers, it has also been associated with prostate and thyroid cancer.<ref>{{Ref PCPBoD8\|545}}</ref>

	~~Memory device for~~ ''CHEK2'' ~~- two common~~ cancers ~~above and below the diaphragm~~:		''CHEK2'' associated cancers in a list:
	*Breast.		*Breast.
			*Colon.
	*Thyroid.		*Thyroid.
	*Colon.
	*Kidney.		*Kidney.
			*Prostate.

	==See also==		==See also==

Michael: +Li-Fraumeni variant

2011-09-24T17:41:50Z

+Li-Fraumeni variant

← Older revision		Revision as of 17:41, 24 September 2011
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	'''Li-Fraumeni syndrome''' is due to germline mutations in the gene TP53 (p53),<ref>{{OMIM\|191170}}</ref> an important regulator of [[apoptosis]] and the cell cycle, i.e. cell division. It is implicated in a very large number of sporadic cancer.		'''Li-Fraumeni syndrome''' is due to germline mutations in the gene TP53 (p53),<ref name=omim191170>{{OMIM\|191170}}</ref> an important regulator of [[apoptosis]] and the cell cycle, i.e. cell division. It is implicated in a very large number of sporadic cancer.

	Individuals with Li-Fraumeni syndrome are predisposed to cancer. TP53 is considered to be a tumour suppressor and like most tumour suppressors, inheritance is autosomal dominant.		Individuals with Li-Fraumeni syndrome are predisposed to cancer. TP53 is considered to be a tumour suppressor and like most tumour suppressors, inheritance is autosomal dominant.
Line 12:		Line 12:
	*Acute [[leukemia]].<ref name=emed987356ov/>		*Acute [[leukemia]].<ref name=emed987356ov/>
	*[[Soft tissue lesions\|Soft tissue sarcomas]].<ref name=emed987356ov/>		*[[Soft tissue lesions\|Soft tissue sarcomas]].<ref name=emed987356ov/>

			==Li-Fraumeni variant==
			A germline mutation in CHEK2<ref name=omim604373>{{OMIM\|604373}}</ref> is considered to a '''Li-Fraumeni variant''', as it interacts with TP53 and BRCA1.

			CHEK2 mutation are most strongly associated with [[breast cancer]] and [[colon cancer]]; thus, it is also known as
			hereditary breast & colorectal cancer (HBCC).<ref name=omim604373/> In addition to breast and colon cancers, it has also been associated with prostate and thyroid cancer.<ref>{{Ref PCPBoD8\|545}}</ref>

			Memory device for ''CHEK2'' - two common cancers above and below the diaphragm:
			*Breast.
			*Thyroid.
			*Colon.
			*Kidney.

	==See also==		==See also==

Michael: w

2011-09-08T01:01:10Z

← Older revision		Revision as of 01:01, 8 September 2011
Line 1:		Line 1:
	'''Li-Fraumeni syndrome''' is due to germline mutations in the gene TP53 (p53),<ref>{{OMIM\|191170}}</ref> an important regulator of apoptosis and the cell cycle, i.e. cell division. It is implicated in a very large number of sporadic cancer.		'''Li-Fraumeni syndrome''' is due to germline mutations in the gene TP53 (p53),<ref>{{OMIM\|191170}}</ref> an important regulator of [[apoptosis]] and the cell cycle, i.e. cell division. It is implicated in a very large number of sporadic cancer.

	Individuals with Li-Fraumeni syndrome are predisposed to cancer. TP53 is considered to be a tumour suppressor and like most tumour suppressors, inheritance is autosomal dominant.		Individuals with Li-Fraumeni syndrome are predisposed to cancer. TP53 is considered to be a tumour suppressor and like most tumour suppressors, inheritance is autosomal dominant.

Michael: more

2011-03-19T20:18:18Z

← Older revision		Revision as of 20:18, 19 March 2011
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	'''Li-Fraumeni syndrome''' is due to germline mutations in the gene TP53 (p53),<ref>{{OMIM\|191170}}</ref> an important regulator of apoptosis and the cell cycle, i.e. cell division. It is implicated in a very large number of sporadic cancer.		'''Li-Fraumeni syndrome''' is due to germline mutations in the gene TP53 (p53),<ref>{{OMIM\|191170}}</ref> an important regulator of apoptosis and the cell cycle, i.e. cell division. It is implicated in a very large number of sporadic cancer.

	Individuals with Li-Fraumeni syndrome are predisposed to cancer.		Individuals with Li-Fraumeni syndrome are predisposed to cancer. TP53 is considered to be a tumour suppressor and like most tumour suppressors, inheritance is autosomal dominant.

	==Associated cancers==		==Associated cancers==
	This is not an exhaustive list:		This is not an exhaustive list:
	*[[Adrenocortical carcinoma]].<ref name=Ref_PBoD8_1157>{{Ref PBoD8\|1157}}</ref>		*[[Adrenocortical carcinoma]].<ref name=Ref_PBoD8_1157>{{Ref PBoD8\|1157}}</ref>
			*[[Breast cancer]].<ref name=emed987356ov>URL: [http://emedicine.medscape.com/article/987356-overview http://emedicine.medscape.com/article/987356-overview]. Accessed on: 19 March 2011.</ref>
			*[[Osteosarcoma]].<ref name=emed987356ov/>
			*[[Chondrosarcoma]].<ref name=emed987356ov/>
			*[[Brain tumours]].<ref name=emed987356ov/>
			*Acute [[leukemia]].<ref name=emed987356ov/>
			*[[Soft tissue lesions\|Soft tissue sarcomas]].<ref name=emed987356ov/>

	==See also==		==See also==

Michael: create

2011-03-19T20:09:01Z

create

New page

'''Li-Fraumeni syndrome''' is due to germline mutations in the gene TP53 (p53),<ref>{{OMIM|191170}}</ref> an important regulator of apoptosis and the cell cycle, i.e. cell division. It is implicated in a very large number of sporadic cancer.

Individuals with Li-Fraumeni syndrome are predisposed to cancer.

==Associated cancers==
This is not an exhaustive list:
*[[Adrenocortical carcinoma]].<ref name=Ref_PBoD8_1157>{{Ref PBoD8|1157}}</ref>

==See also==
*[[Basics]].
*[[Immunohistochemistry]].

==References==
{{Reflist|2}}

[[Category:Syndromes]]

← Older revision		Revision as of 16:06, 30 March 2012
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	The alternate name '''SBLA syndrome''' is a ''mnemonic'':<ref name=omim151623>{{OMIM\|151623}}</ref>		The alternate name '''SBLA syndrome''' is a ''mnemonic'':<ref name=omim151623>{{OMIM\|151623}}</ref>
	*[[Sarcoma\|'''S'''arcomas]].		*[[Sarcoma\|'''S'''arcomas]].
	*[[Invasive breast cancer\|'''B'''~~rest~~ cancer]].		*[[Invasive breast cancer\|'''B'''reast cancer]].
	*[[brain tumours\|'''B'''rain tumours]].		*[[brain tumours\|'''B'''rain tumours]].
	*[[leukemia\|'''L'''eukemia]].		*[[leukemia\|'''L'''eukemia]].
Line 21:		Line 21:
	*[[Lung cancer\|'''L'''ung cancer]].		*[[Lung cancer\|'''L'''ung cancer]].
	*[[Adrenal cortical carcinoma\|'''A'''drenal cortical carcinoma]].		*[[Adrenal cortical carcinoma\|'''A'''drenal cortical carcinoma]].


	==Li-Fraumeni variant==		==Li-Fraumeni variant==

← Older revision		Revision as of 15:29, 19 March 2018
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	*[[Basics]].		*[[Basics]].
	*[[Immunohistochemistry]].		*[[Immunohistochemistry]].
			*[[p53]].

	==References==		==References==