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Rare germline variants in patients with personal and family history of colorectal cancer

A double primary colorectal cancer (CRC) in a familial setting signals a high risk of CRC. In order to find novel high/moderate penetrance CRC susceptibility genes, we performed whole-exome sequencing on germline blood samples of seven familial cases from Poland with a double primary CRC.

Type: Exome Sequencing
Archiver: European Genome-phenome Archive (EGA)

1 Dataset 2 Publications

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Dataset ID	Description	Technology	Samples
EGAD50000000861	A double primary colorectal cancer (CRC) in a familial setting signals a high risk of CRC. In order to find novel high/moderate penetrance CRC susceptibility genes, we performed whole-exome sequencing on germline blood samples of seven familial cases from Poland with a double primary CRC.	unspecified	7

Publications	Citations
Search for germline gene variants in colorectal cancer families presenting with multiple primary colorectal cancers. Försti A, Ambrozkiewicz F, Marciniak M, Lubinski J, Hemminki K. Int J Cancer 156: 2025 1393-1403	2
Familial colorectal cancer: search for novel predisposition genes. Försti A, Miao B, Kumar A, Dymerska Zaremba D, Marciniak M, Lubinski J, Hemminki K. Hum Genomics 20: 2025 22	0