Familial breast cancer

The presence of pathogenic variants in the BRCA1 and BRCA2 genes are relevant risk factors for the development of breast and ovarian cancer in women. Moreover, they not only predispose to these tumour types, but also contribute to the likelihood of developing prostate cancer in men and increase the risk of pancreatic cancer in both sexes.

Breast cancer is a malignant tumor that originates in the tissue of the mammary gland. When the cancerous cells originate in the glandular tissue of the breast and have the capacity to invade the surrounding healthy tissues, we speak of breast cancer. Worldwide, it is the most frequently diagnosed malignant tumor and the leading cause of cancer death in women.

It is estimated that between 5% and 10% of breast cancers are hereditary and follow an autosomal dominant pattern of inheritance. Familial breast cancer or hereditary breast cancer (HBC) is due, in most cases, to a mutation in the BRCA1 or BRCA2 genes.


HBC is characterized by an increased risk of male and female breast cancer, an increased predisposition to ovarian and fallopian tube cancer in women and, to a lesser extent, increased risk of other types of cancer, such as prostate cancer in men, pancreatic cancer and melanoma.

Symptoms that may indicate the presence of breast cancer include:

  • A lump or area of thickened tissue in the breast, upper chest or armpit.
  • Skin changes, such as wrinkling or dimpling.
  • A change in the color of the breast, which may appear red or swollen.
  • Changes in the nipple, for example, it has retracted (inverted).
  • Rashes (eczema-like), scaling, or crusting on or around the nipple.
  • Unusual fluid (discharge) from the nipples.
  • Changes in the size or shape of the breast.
  • The most common symptom of breast cancer in men is a lump in the breast area.

Disease management

Screening for breast cancer at an earlier age and annual follow-up (mammography and screening with MRI or MRI) are recommended.

Prophylactic surgery (bilateral mastectomy and salpingo-oophorectomy) or chemoprevention with drugs such as tamoxifen and raloxifene may be used in those at increased risk of cancer.

Genes analyzed



Antoniou AC, Spurdle AB, Sinilnikova OM, et al . Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Am J Hum Genet. 2008 Apr;82(4):937-48.

Fentiman IS. The biology of male breast cancer. Breast. 2018 Apr;38:132-135.

Nielsen FC, van Overeem Hansen T, Sørensen CS. Hereditary breast and ovarian cancer: new genes in confined pathways. Nat Rev Cancer. 2016 Sep;16(9):599-612.

PDQ Cancer Genetics Editorial Board. Genetics of Breast and Gynecologic Cancers (PDQ®): Health Professional Version. 2022 Nov 4. In: PDQ Cancer Information Summaries [Internet]. Bethesda (MD): National Cancer Institute (US); 2002-.

Petrucelli N, Daly MB, Pal T. BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer. 1998 Sep 4 [updated 2022 May 26]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023.

Rebbeck TR, Friebel TM, Friedman E, et al . Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. Hum Mutat. 2018 May;39(5):593-620.

Thouvenot P, Ben Yamin B, Fourrière L, et al . Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making. PLoS Genet. 2016 Jun 6;12(6):e1006096.

Winter C, Nilsson MP, Olsson E, et al . Targeted sequencing of BRCA1 and BRCA2 across a large unselected breast cancer cohort suggests that one-third of mutations are somatic. Ann Oncol. 2016 Aug;27(8):1532-8.

Yamauchi H, Takei J . Management of hereditary breast and ovarian cancer. Int J Clin Oncol. 2018 Feb;23(1):45-51.

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