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Condition report · Cancer

Breast Cancer Genes Beyond BRCA

Variants in genes such as CHEK2, ATM, BARD1, RAD51C, RAD51D and BRIP1 raise the risk of breast and/or ovarian cancer, though usually less than BRCA1 or BRCA2 variants do.

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

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The 9 conditions we analyse

Hereditary breast cancer

Autosomal dominant

Inherited susceptibility to breast cancer caused by variants in one of several genes.

What a diagnosis changes

Earlier and more intensive breast screening, including MRI, may be recommended depending on the gene.

Genes analysed

Also known as

breast cancer susceptibility, autosomal dominant, somatic mutation; breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation; breast cancer, invasive ductal, autosomal dominant, somatic mutation; breast cancer, lobular, somatic; breast cancer, male, susceptibility to, autosomal dominant, somatic mutation; breast cancer, protection against, autosomal dominant, somatic mutation; breast cancer, somatic; breast cancer, susceptibility to, autosomal dominant, somatic mutation; familial breast cancer; familial breast carcinoma; familial cancer of breast; familial cancer of the breast

Includes 1 related subtype ↓
  • CTNNA1-related diffuse gastric and lobular breast cancer syndrome
MONDO:0016419OMIM 114480Orphanet 227535MedGen 87542

CHEK2-related cancer predisposition

Autosomal dominant

Variants in CHEK2 that moderately raise the risk of breast cancer and possibly some other cancers.

What a diagnosis changes

Enhanced breast screening, often including annual MRI, is generally recommended.

Genes analysed

MONDO:0700271MedGen 1849727

ATM-related cancer predisposition

Autosomal dominant

A single variant in ATM moderately raises the risk of breast cancer and is linked to pancreatic and prostate cancer.

What a diagnosis changes

Enhanced breast screening is generally recommended; carriers with a partner who also carries an ATM variant may wish to know the risk of ataxia-telangiectasia in their children.

Genes analysed

MONDO:0700270

BARD1-related cancer predisposition

Autosomal dominant

Variants in BARD1 that moderately raise the risk of breast cancer.

What a diagnosis changes

Enhanced breast screening may be recommended.

Genes analysed

MONDO:0700267

RAD51C-related cancer predisposition

Autosomal dominant

Variants in RAD51C that raise the risk of ovarian cancer and, to a lesser degree, breast cancer.

What a diagnosis changes

Removal of the ovaries and fallopian tubes is often considered from the mid-40s to reduce ovarian cancer risk.

Genes analysed

MONDO:0700273

RAD51D-related cancer predisposition

Autosomal dominant

Variants in RAD51D that raise the risk of ovarian cancer and, to a lesser degree, breast cancer.

What a diagnosis changes

Removal of the ovaries and fallopian tubes is often considered from the mid-40s to reduce ovarian cancer risk.

Genes analysed

MONDO:0700274

Familial breast-ovarian cancer susceptibility 3 (RAD51C)

Autosomal dominant

RAD51C-related susceptibility to breast and ovarian cancer.

Genes analysed

Also known as

breast-ovarian cancer, familial, susceptibility to, type 3; BROVCA3; hereditary breast ovarian cancer syndrome caused by mutation in RAD51C; RAD51C hereditary breast ovarian cancer syndrome

MONDO:0013253OMIM 613399MedGen 462009

Familial breast-ovarian cancer susceptibility 4 (RAD51D)

Autosomal dominant

RAD51D-related susceptibility to breast and ovarian cancer.

Genes analysed

Also known as

breast-ovarian cancer, familial, susceptibility to, type 4; BROVCA4; hereditary breast ovarian cancer syndrome caused by mutation in RAD51D; RAD51D hereditary breast ovarian cancer syndrome

MONDO:0013669OMIM 614291MedGen 481975

Familial ovarian cancer

Autosomal dominant

Inherited susceptibility to ovarian cancer, including that linked to BRIP1 variants.

What a diagnosis changes

Risk-reducing removal of the ovaries and fallopian tubes may be considered.

Genes analysed

Also known as

familial ovarian malignant tumor; familial ovarian malignant tumour; hereditary ovarian cancer

Includes 2 related subtypes ↓
  • familial ovarian carcinoma
  • hereditary site-specific ovarian cancer syndrome
MONDO:0016248Orphanet 213517MedGen 1803368

Limitations

  • Part of CHEK2 (exons 10-14) is duplicated elsewhere in the genome, so some variants there, including the common c.1100delC, can be missed or miscalled.
  • Larger deletions, such as the CHEK2 exon 9-10 deletion, need copy-number analysis and may not be detected.

Other cancer conditions

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