Disease #00513 (HNPCC1 (Lynch) (cancer, colorectal, nonpolyposis, hereditary, type 1 (HNPCC-1, Lynch syndrome)), OMIM:120435)

Official abbreviation	HNPCC1 (Lynch)
Name	cancer, colorectal, nonpolyposis, hereditary, type 1 (HNPCC-1, Lynch syndrome)
OMIM ID	120435
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	15
Phenotype entries for this disease	12
Associated with 7 genes	EPCAM, GALNT12, MLH1, MLH3, MSH2, MSH6, PMS2
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-08-22 11:31:54 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

Individuals

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ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
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? (unknown)
- (not applicable)
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Cunha
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Tunisia
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Turkey
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Turkmenistan
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Tuvalu
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Ukraine
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Yugoslavia
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Zaire
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Zambia
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Zimbabwe
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Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

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15 entries on 1 page. Showing entries 1 - 15.

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Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00038793	-	-	2 Gen;2 cases CRC 46,34	F	-	(United Kingdom (Great Britain))	-	-	-	-	-	HNPCC1 (Lynch)	Caecal Adenocarcinoma	MLH1, MSH2	MLH1	1	1	Ruth Armstrong
00046950	-	-	Grantham assessment - highly likely deleterious, In silico prediction - disease causing; Family history- son CRC 31 (in NZ- segregation not done yet), another son ascending colon and rectal adenoma, and sigmoid hyperplastic polyp at 34, father CRC 61	F	-	-	-	-	-	-	-	HNPCC1 (Lynch)	Endometrial (53y)	MSH6	MSH6	1	1	InSiGHT - John-Paul Plazzer
00052040	-	-	CRC aged 46 in proband. No additional family testing that we're aware of.	-	-	-	-	-	-	-	-	HNPCC1 (Lynch)	-	PMS2	PMS2	1	1	Ian Berry
00052041	-	-	CRC aged 17 and again at 24; histological profile consistent with CMMRD. Patient heterozygous for c.137G>T (class 4) and ex11-12 duplication. Phase could not be confirmed in parents.	-	-	-	-	-	-	-	-	HNPCC1 (Lynch)	-	-	-	-	1	Ian Berry
00052042	-	-	CRC aged 17 and again at 24; histological profile consistent with CMMRD. Patient heterozygous for c.137G>T (class 4) and ex11-12 duplication. Phase could not be confirmed in parents.	-	-	-	-	-	-	-	-	HNPCC1 (Lynch)	-	PMS2	PMS2	1	1	Ian Berry
00052043	-	-	Patient had CRC @48yo. Father had CRC @58yo, isolated PMS2 loss on tumour. Duplication could not be tested as deceased.	-	-	-	-	-	-	-	-	HNPCC1 (Lynch)	-	PMS2	PMS2	1	1	Ian Berry
00057225	-	PubMed: Liu 2001, PubMed: Nicolaides 1994, Journal: Nicolaides 1994	4-generation family, 8 affecteds colon cancer, 10 affecteds with other cancers	F	-	-	-	-	-	-	-	HNPCC1 (Lynch)	HNPCC3, ovarian cancer 43y, colon cancer 51y, endometrial cancer 65y; family history A+	MSH2, PMS1	PMS1	2	2	Johan den Dunnen
00057226	-	PubMed: Liu 2001	nephew of CW (III4)	M	-	-	-	-	-	-	-	HNPCC1 (Lynch)	colorectal cancer 42y	MSH2	PMS1	1	1	Johan den Dunnen
00326097	MSI-DK-015	-	-	M	?	India	-	?	-	-	-	HNPCC1 (Lynch)	HP:0002672	-	MLH1	1	1	Harsh Sheth
00326098	MSI-ASPK-018	-	-	M	?	India	-	?	-	-	-	HNPCC1 (Lynch)	HP:0002672	-	MLH1	1	1	Harsh Sheth
00331312	-	-	-	-	-	-	-	-	-	-	-	HNPCC1 (Lynch)	-	MSH2	MSH2	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00384619	184879	-	-	M	-	Germany	-	-	-	-	-	HNPCC1 (Lynch)	-	MSH2	MSH2	1	1	Andreas Laner
00403039	-	-	-	M	no	New Zealand	European	-	-	-	-	HNPCC1 (Lynch)	Transverse colon cancer diagnosed at age 65, 10 tubular adenomas with low grade dysplasia and 10 serrated polyps	APC, BMPR1A, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, POLD1, POLE, SMAD4	MLH1	1	1	Sarah Collis
00417005	L1502	PubMed: Boumehdi 2022	2-generation Family, 4 affected (2F, 2M)	M	no	Algeria	-	-	-	-	-	HNPCC1 (Lynch)	-	MLH1	MLH1	1	4	Farid Cherbal
00436779	-	-	-	M	-	-	-	-	-	-	-	HNPCC1 (Lynch)	-	MLH1	MLH1	1	1	Cristiano Simone

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