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 and BRCA2

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.

Management

  • 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.

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See Uterus#BRCA_carrier.

Other mutations

  • BARD1 mutations.[6]

See also

References

  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. 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.