Carrier of a pathogenic BRCA1/BRCA2 variant or Lynch syndrome: follow-up and role of the GP (including PSA in men with BRCA2)

Every year from 40 years (BRCA2 carrier)

• Total PSA
• Total PSA (BRCA1 carrier: to be discussed, every year from 40 years)if neededBRCA1 carrier: the NCCN allows consideration of an annual PSA from 40 years ^[3], as do the authors of IMPACT ^[4]; the AFU, EAU and ESMO do not recommend it ^[5,6,7]. Shared decision.
• Annual digital rectal examination in addition (AFU recommendation).
• PSA > 3 ng/mL confirmed on repeat testing or abnormal digital rectal examination: refer to a urologist (MRI before any biopsy).

• No laboratory surveillance tests.
• Annual clinical breast and pelvic examination; from 30 to 65 years, MRI then mammography on the same day every year (alternating with the clinical examination); after 65 years, annual mammography.

Preoperative tests for risk-reducing adnexectomy

• CA 125 (preoperative tests for adnexectomy, with pelvic ultrasound)if neededOnly before risk-reducing salpingo-oophorectomy, if the surgical team requests it: INCa recommends pelvic ultrasound and CA 125 in this work-up (expert opinion) ^[1].

• No routine laboratory tests: colonoscopy (gastroenterologist) every 1 to 2 years from 20-25 years, initial gastroscopy, gynaecological follow-up; follow the personalised surveillance plan given by the oncogenetics consultation.
• Total PSA (MSH2 carrier man, from 40 years, to be discussed)if needednon-French guidelineMan carrying an MSH2 variant (or MSH6): NCCN 2026 allows consideration of PSA from 40 years ^[3]; the Mallorca guidelines find no demonstrated benefit ^[2]. Shared decision.

• Pancreatic MRI and/or endoscopic ultrasound every year in an expert centre, only if the indication has been set by the oncogenetics or gastroenterology team.

Annual laboratory tests (only if pancreatic surveillance is under way)

• Fasting plasma glucose (every year, if pancreatic surveillance has been decided)if needednon-French guidelineCarrier included in pancreatic surveillance: the CAPS consortium recommends fasting plasma glucose and/or HbA1c at baseline then regularly, to detect recent-onset diabetes ^[21].
• HbA1c (alternative, if pancreatic surveillance has been decided)if neededAlternative to fasting plasma glucose according to the CAPS consortium ^[21]; in a non-diabetic, it falls outside NABM indications: prefer fasting plasma glucose ^[13].