Müllerian intra-abdominal carcinomatosis in hereditary breast ovarian cancer syndrome: implications for risk-reducing surgery

Fam Cancer. 2016 Jul;15(3):371-84. doi: 10.1007/s10689-016-9878-4.


More than 40 years ago Lynch et al. described several multigenerational breast cancer family pedigrees which demonstrated autosomal dominant inheritance of a trait(s) that increased risks for both breast and ovarian cancers. Mutation carriers in at least 90 % of these hereditary breast ovarian cancer (HBOC) syndrome families have been linked to cancer-associated mutations in the genes BRCA1 and BRCA2. This review focuses on the contributions of Lynch, colleagues and collaborators and pertinent literature, toward defining the HBOC syndrome, the cancer risks that the inherited adverse mutations convey, the gynecologic tissues and organs from which the malignancy may arise to disseminate throughout the pelvic and abdominal organs and peritoneum and how this information can be used to reduce the risk and morbidities of intra-abdominal carcinomatosis in effected individuals.

Keywords: Hereditary breast ovarian cancer; Intra-abdominal carcinomatosis; Risk-reducing surgery.

Publication types

  • Review

MeSH terms

  • Abdominal Neoplasms / genetics
  • Abdominal Neoplasms / pathology
  • Abdominal Neoplasms / prevention & control*
  • BRCA1 Protein / genetics
  • BRCA2 Protein / genetics
  • Carcinoma / genetics
  • Carcinoma / pathology
  • Carcinoma / prevention & control*
  • Female
  • Genetic Predisposition to Disease*
  • Hereditary Breast and Ovarian Cancer Syndrome / genetics*
  • Hereditary Breast and Ovarian Cancer Syndrome / pathology
  • Hereditary Breast and Ovarian Cancer Syndrome / surgery
  • Humans
  • Mixed Tumor, Mullerian / genetics
  • Mixed Tumor, Mullerian / pathology
  • Mixed Tumor, Mullerian / prevention & control*
  • Mutation
  • Ovariectomy
  • Prophylactic Mastectomy
  • Prophylactic Surgical Procedures / methods*
  • Salpingectomy


  • BRCA1 Protein
  • BRCA2 Protein
  • BRCA2 protein, human