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Table 1 The DM (disease-causing mutations) and DM? (putative disease-causing mutations but where there is some residual doubt as to pathological significance) mutations identified in each family

From: Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach

 

Cancer type

HGMD tag

Family A, annotated variants

  

 dbsnp.129:rs56250729

Prostate cancer

DM?

 dbsnp.125:rs28756990

Endometrial cancer

DM?

 dbsnp.131:rs77067228

Cancer

DM?

 dbsnp.89:rs1799966

Breast and/or ovarian cancer

DM/DM?

 dbsnp.113:rs4986852

Breast cancer

DM?

 COSMIC:mut:148278;dbsnp.86:rs799917

Breast and/or ovarian cancer

DM

 dbsnp.89:rs1799950

Breast cancer

DM

 dbsnp.98:rs2229995

Adenomatous polyposis coli

DM?

 dbsnp.127:rs41545019

Colorectal cancer

DM?

 dbsnp.98:rs1805324

Colorectal cancer, non-polyposis

DM?

 dbsnp.129:rs61753720

Acute lymphoblastic leukemia

DM

Family B, Annotated variants

  

 dbsnp.126:rs33927012

Medullary thyroid carcinoma

DM?

 dbsnp.98:rs2229992

Adenomatous polyposis coli

DM

 dbsnp.76:rs41115

Adenomatous polyposis coli

DM

 dbsnp.79:rs169547

Breast cancer

DM?

 dbsnp.103:rs3092994

Breast cancer

DM?

 dbsnp.89:rs1799966

Breast cancer

DM

 dbsnp.86:rs1060915

Breast cancer

DM

 dbsnp.125:rs28897689

Breast and/or ovarian cancer

DM

 COSMIC:mut:148278;dbsnp.86:rs799917

Breast and/or ovarian cancer

DM

 dbsnp.60:rs16940

Breast cancer

DM