Risk Management for Peutz Jeghers Syndrome – breast (female)

Peutz Jeghers (PJS) is an autosomal dominant syndrome. It is characterised by multiple hamartomatous polyps in the GI tract with mucocutaneous pigmentation. The majority of patients with PJS have a STK11 gene mutation.

These recommendations are for those with PJS who have not been affected by a relevant cancer. The target group includes those with a pathogenic germline STK11 mutation, individuals at 50% risk of PJS and individuals with a clinical diagnosis of PJS. Individualised surveillance should be made for affected patients based on their own post treatment plan.

Exclusion criteria:

  • Parents and siblings (not children) of a person with a clinical diagnosis of PJS who appears to be an isolated case, and no STK11 gene mutation is identified
Cancer PJS by age 40 yrs PJS by age 60 yrs PJS by age 70 yrs General
Population by 80 yrs
All cancers 17-20% 58-60% 76-85% 50%
Female breast 8% 31% 45% 12.5%
Colorectal 3% 15% 39% 8.3%
Gynaecological 3% 18% 18% 4.2%
Pancreas 2-3% 7-11% 11-26% 1.5%

Gastric cancer risk is 29% by 65y
Small bowel cancer risk is 13% by 65y

Cancer Risk Management Guidelines

Breast Recommendations

Individualised surveillance is needed in families with a breast cancer diagnosed 35 years or under.

For an unaffected woman:

  • Screening should start at 30 years
  • Annual MRIs and mammograms (with or without ultrasound scans dependent on individual need) 30-50 years
  • Annual mammograms (with or without ultrasound scans dependent on individual need) 50 years onwards

Pregnancy – ultrasound scans may be considered (no MMG or MRI)

Risk Reducing Medications
Careful assessment of risks and benefits with an experienced medical practitioner is required.
Risk Reducing Surgery
Consider bilateral risk reducing mastectomy followed by self-surveillance of the chest wall.



  • Continuing from the age of 30y
  • Gastroduodenoscopy and colonoscopy at least every 3y
  • VCE, MRE (MR enterolysis) or Barium follow-through at least every 3y

Risk Reducing Medication
There is no evidence to support the use of risk-reducing medication outside clinical trials

Risk Reducing Surgery

  • No preventative surgery is recommended
  • Surgical management may be clinically indicated


Refer to a gynaecological oncologist or gynaecologist for annual pelvic examination and smear from 18 years or 25 years depending on expert group. Data on this is not robust so surveillance should be individualised based
on phenotype, expected age and incidence of disease, and family history.