Dataset Information

Searching for genetic biomarkers for hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE)

ABSTRACT: Genetic biomarkers in hereditary angioedema

INSTRUMENT(S): Ion S5XL

ORGANISM(S): Homo Sapiens

SUBMITTER: CeMIA SA

PROVIDER: PRJEB51008 | EVA | 2022-02-20

REPOSITORIES: EVA

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Dataset's files

Source:

			Action	DRS
	EVAcemia2022GBHAvcf.vcf.gz	Vcf
	EVAcemia2022GBHAvcf.vcf.gz.csi	Vcf
	EVAcemia2022GBHAvcf.vcf.gz.tbi	Vcf

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Project description:This study, conducted by NHGRI and the M.D. Anderson Cancer Center in Houston, Texas, will develop statistical approaches for modeling family social structure and apply these models to explore the role of family social structure in participation in genetic testing and counseling, disclosure of test results and adjustment to risk status. With recent genetic advances and the ability to test for hereditary illnesses, methods that provide an understanding of the family social structure and how that structure affects the dissemination of genetic risk information are increasingly important. The data for this study were collected by the M.D. Anderson Cancer Center as part of a study on family communication and family functioning with regard to genetic testing for hereditary nonpolyposis colon cancer (HNPCC). Relatives of people with HNPCC are more likely than the general population to get colon cancer and other types of cancer if they have inherited the gene alteration (mutation) that predisposes to the disease. This alteration can be passed on from a parent to some or all of his or her children. In the M.D. Anderson Cancer Center study, telephone interviews were conducted with 80 adult members of 16 extended families with a known gene alteration predisposing for HNPCC. These participants included people who had been diagnosed with an HNPCC syndrome cancer, their unaffected family members who were at risk of carrying a gene mutation for HNPCC, and their spouses. Participants were interviewed about their feelings, moods, coping style, and relationships with their spouse, relatives, and friends, about their willingness to have genetic testing, and about their feelings and beliefs about colon cancer, cancer screening and genetic testing and counseling. Some participants were asked about their family communication style and how the family coped with the idea of genetic testing and with the results, if testing was done. The information obtained from the current study may help facilitate family participation, communication and psychological adjustment regarding risk information about genetic diseases.

Dataset Information

Searching for genetic biomarkers for hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE)

Dataset's files

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