Hereditary breast cancer

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This article deals with hereditary breast cancer.

Familial breast cancer redirects to this article.

Syndromes associated with breast cancer

Gene Syndrome Cancers Notes
BRCA1 Familial breast and ovarian cancer[1] breast, male breast, ovarian, prostate, pancreas, fallopian tube younger individuals vis-à-vis BRCA2
BRCA2 Familial breast and ovarian cancer 2[2] breast, male breast, ovarian, prostate, pancreas, stomach, melanoma, gallbladder, bile duct, pharynx older individuals vis-à-vis BRCA1
TP53 (p53) Li-Fraumeni syndrome (AKA SBLA syndrome) sarcomas, brain, larynx, lung, leukemia, adrenal, breast often present in childhood
CHEK2 Li-Fraumeni syndrome (variant) see p53 -
STK11 Peutz-Jeghers syndrome breast, gastrointestinal, Sertoli cell tumour, granulosa cell tumour, SCTAT characteristic GI hamartomas, mucocutaneous pigmentation
PTEN Cowden syndrome breast, thyroid (PTC), endometrial, renal, colorectal -
CDH1 Familial diffuse gastric cancer[3] invasive lobular carcinoma, gastric signet ring cell carcinoma -


BRCA1 versus BRCA2:[4]

Gene Age Histology Other cancers
BRCA1 younger worse types, e.g. triple negative breast ca. uterine tube
BRCA2 older sporadic types stomach, melanoma, gallbladder, bile duct, pharynx

Types of cancer associated with both BRCA1 and BRCA2 - male OPP:

  • Male breast, ovarian, prostate, pancreas.

How to remember types of cancer associated with BRCA2 - PUM:

  • Pharynx, upper GI (stomach, gallbladder, biliary), melanoma.


  • Women get prophylatic bilateral salpingo-oophorectomies and mastectomies.
    • The pathology yield in bilateral salpingo-oophorectomies is significant but modest; in series of 26 prophylatic surgeries (BRCA1 22 individuals, BRCA2 4 individuals) there were 2 in situ carcinoma and 2 atypical proliferations.[5] All of the pathology was in BRCA1 carriers.
    • In prophylatic procedures, the ovaries and tubes, endometrium, and lower uterine segment should all be submitted in total.[6]
  • Poly(ADP-ribose) polymerases (PARP) inhibitors, e.g. olaparib.[7]
    • Used in both germline and somatic BRCA-mutated cancers.

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See Uterus#BRCA_carrier.

Other genes

  • BARD1 - associated with breast and ovarian cancer.[8]
  • RAD51 - associated with breast and ovarian cancer.[9]

See also


  1. Online 'Mendelian Inheritance in Man' (OMIM) 113705
  2. Online 'Mendelian Inheritance in Man' (OMIM) 600185
  3. Online 'Mendelian Inheritance in Man' (OMIM) 192090
  4. Kumar, Vinay; Abbas, Abul K.; Fausto, Nelson; Aster, Jon (2009). Robbins and Cotran pathologic basis of disease (8th ed.). Elsevier Saunders. pp. 1078. ISBN 978-1416031215.
  5. Carcangiu, ML.; Radice, P.; Manoukian, S.; Spatti, G.; Gobbo, M.; Pensotti, V.; Crucianelli, R.; Pasini, B. (Jan 2004). "Atypical epithelial proliferation in fallopian tubes in prophylactic salpingo-oophorectomy specimens from BRCA1 and BRCA2 germline mutation carriers.". Int J Gynecol Pathol 23 (1): 35-40. doi:10.1097/01.pgp.0000101082.35393.84. PMID 14668548.
  6. Downes, MR.; Allo, G.; McCluggage, WG.; Sy, K.; Ferguson, SE.; Aronson, M.; Pollett, A.; Gallinger, S. et al. (Aug 2014). "Review of findings in prophylactic gynaecological specimens in Lynch syndrome with literature review and recommendations for grossing.". Histopathology 65 (2): 228-39. doi:10.1111/his.12386. PMID 24495259.
  7. Dziadkowiec KN, Gąsiorowska E, Nowak-Markwitz E, Jankowska A (December 2016). "PARP inhibitors: review of mechanisms of action and BRCA1/2 mutation targeting". Prz Menopauzalny 15 (4): 215–219. doi:10.5114/pm.2016.65667. PMC 5327624. PMID 28250726.
  8. Ratajska M, Antoszewska E, Piskorz A, et al. (January 2012). "Cancer predisposing BARD1 mutations in breast-ovarian cancer families". Breast Cancer Res. Treat. 131 (1): 89–97. doi:10.1007/s10549-011-1403-8. PMID 21344236.
  9. Bonilla B, Hengel SR, Grundy MK, Bernstein KA (November 2020). "RAD51 Gene Family Structure and Function". Annu Rev Genet 54: 25–46. doi:10.1146/annurev-genet-021920-092410. PMC 7703940. PMID 32663049.