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Condition report · Cancer

Hereditary Diffuse Gastric Cancer

An inherited condition, usually caused by variants in CDH1 and less often CTNNA1, that raises the risk of diffuse-type stomach cancer and, in women, lobular breast cancer.

A condition report looks for rare variants known to cause the conditions it covers.

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The 3 conditions we analyse

CDH1-related diffuse gastric and lobular breast cancer syndrome

Autosomal dominant

CDH1 variants that raise the lifetime risk of diffuse gastric cancer and lobular breast cancer.

What a diagnosis changes

Preventive removal of the stomach is often considered, or intensive endoscopic surveillance as an alternative, with breast MRI for women.

Genes analysed

Also known as

DGLBC; diffuse gastric and lobular breast cancer syndrome; gastric cancer, familial diffuse breast cancer, lobular; gastric cancer, hereditary diffuse; HDGC; LBC

MONDO:0100488OMIM 137215

Hereditary diffuse gastric adenocarcinoma

Autosomal dominant

Familial clustering of diffuse-type stomach cancer, often caused by CDH1 variants.

What a diagnosis changes

Specialist assessment of stomach surgery or endoscopic surveillance.

Genes analysed

Also known as

diffuse gastric cancer; familial diffuse cancer of stomach; familial diffuse gastric cancer; FDGC; HDGC; hereditary diffuse cancer of stomach; hereditary diffuse gastric cancer; signet cell adenocarcinoma; signet ring cell gastric carcinoma; signet ring gastric carcinoma

MONDO:0007648Orphanet 26106MedGen 310839

CTNNA1-related diffuse gastric and lobular breast cancer syndrome

Autosomal dominant

CTNNA1 variants that raise the risk of diffuse gastric cancer and lobular breast cancer.

What a diagnosis changes

Endoscopic surveillance and breast screening are usually advised.

Genes analysed

MONDO:0100256

Limitations

  • Deletions of one or more CDH1 exons need copy-number analysis and may not be detected.

Other cancer conditions

All conditions →

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