Introduction to Genetics and Gynecologic Cancer

Photo of a grandmother and her daughter and granddaughter

Some gynecologic cancers can be due to inherited genetic syndromes. Each of these syndromes is associated with multiple cancers.

Ovarian, fallopian tube, and primary peritoneal cancers can be—

  • Due to hereditary breast and ovarian cancer syndrome (HBOC), usually due to mutations in BRCA1/BRCA2 (BReast CAncer susceptibility) genes.
  • Associated with Lynch syndrome.1
  • Associated with mutations in other genes, some of which are more common than mutations associated with Lynch syndrome.

Uterine (endometrial) cancer can be due to Lynch syndrome.

Identifying Individuals to Evaluate for Referral to Genetic Counseling and Testing

Providers should collect and review patients’ personal and family health history of cancer to identify individuals who could be at risk for HBOC, Lynch syndrome, or other hereditary cancer syndromes. HBOC and Lynch syndrome mutations can be inherited from either parent, so maternal and paternal family health histories are equally important. Women with personal or family health histories of any of the following conditions should be evaluated for referral for genetic counseling and testing—

  • Breast, colorectal, or uterine (endometrial) cancer before age 50.
  • Ovarian, fallopian tube, or primary peritoneal cancer at any age.
  • Cancers that are related to one of these syndromes in multiple family members.
    • Breast, ovarian, pancreatic, prostate, and skin (melanoma) cancer for HBOC.
    • Colorectal, uterine (endometrial), ovarian, stomach, small bowel, hepatobiliary tract (liver, pancreas, gallbladder), urinary tract (kidney, bladder, ureters), brain, and skin cancer for Lynch syndrome.
  • Known mutation related to HBOC syndrome or Lynch syndrome in the family.
  • Triple-negative breast cancer at age 60 or younger in women (for HBOC).
  • Breast cancer at any age in men (for HBOC).
  • Bilateral breast cancer or multiple primaries (for HBOC).
  • Ashkenazi (Eastern European) Jewish ancestry (for HBOC).
  • History of colon polyps before age 40 (related to uterine cancer).


1Nakamura K, Banno K, Yanokura M, Iida M, Adachi M, Masuda K, Ueki A, Kobayashi Y, Nomura H, Hirasawa A, Tominaga E, Aoki D. Features of ovarian cancer in Lynch syndrome (Review).external icon Molecular and Clinical Oncology 2014;2(6):909–916.


Genetic Red Flags Checklistexternal icon (Hereditary Breast & Ovarian Cancer Program)

HBOC Cancer Risk and Screening Guidelinesexternal icon (Hereditary Breast & Ovarian Cancer Program)

How to Find a Genetic Counselorexternal icon (National Society of Genetic Counselors)

Tools for taking a patient’s family history—

Whom to refer for a genetic evaluation—

Page last reviewed: September 16, 2015