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Reading the inherited genomes of 638 people from pancreatic cancer families confirmed BRCA2, CDKN2A and ATM as causes but found that most families' risk is spread across many rare genes rather than one.
Germline genomes of 638 familial pancreatic cancer patients and tumour exomes of 39 familial adenocarcinomas were sequenced. The analyses supported previously identified susceptibility genes BRCA2, CDKN2A and ATM and identified novel candidate genes harbouring rare deleterious germline variants. Somatic mutations arising during haematopoiesis were shown to affect interpretation of genome-wide hereditary studies. The genetic basis of susceptibility in most familial patients remained unexplained and highly heterogeneous.
Familial risk is mostly unexplained by the panel genes, which is why surveillance programmes enrol on family history as well as on a named variant.
Shares ATM, CDKN2A, Johns Hopkins Hospital / Sidney Kimmel Comprehensive Cancer Center, BRCA1 / BRCA2 (HRD).
Shares ATM, High-risk pancreatic surveillance (CAPS / PRECEDE), CDKN2A, Hereditary cancer syndromes.
Shares High-risk pancreatic surveillance (CAPS / PRECEDE), Johns Hopkins Hospital / Sidney Kimmel Comprehensive Cancer Center, Whole-exome & whole-genome sequencing, Pancreatic ductal adenocarcinoma.
Shares ATM, CDKN2A, BRCA1 / BRCA2 (HRD), Germline (hereditary) testing.
Shares ATM, High-risk pancreatic surveillance (CAPS / PRECEDE), CDKN2A, Hereditary cancer syndromes.
Shares High-risk pancreatic surveillance (CAPS / PRECEDE), Johns Hopkins Hospital / Sidney Kimmel Comprehensive Cancer Center, Whole-exome & whole-genome sequencing, Pancreatic ductal adenocarcinoma.
Shares Hereditary cancer syndromes, BRCA1 / BRCA2 (HRD), Germline (hereditary) testing.
Shares Cancer Discovery, Whole-exome & whole-genome sequencing, BRCA1 / BRCA2 (HRD), Germline (hereditary) testing.