Hereditary cancer risk
The anchor question: who in this family needs testing, and what surveillance follows? Thirty years after BRCA1 and BRCA2 were cloned, most carriers are still unidentified, and unfamiliarity in primary care is one of the documented reasons.4 This cohort is mostly surveillance: lighter on treatment, heavier on a calendar someone has to keep for decades.
Who this cohort covers
Adults with a personal or family history suggesting a hereditary cancer syndrome: breast, ovarian, tubal or peritoneal cancer in the family; colorectal or endometrial cancer young or in several relatives; prostate or pancreatic cancer clusters; Ashkenazi Jewish ancestry; or a known pathogenic variant in a relative. Also the carrier already identified who needs a surveillance plan that someone actually holds.
The gap is measurable, and closable. Given the same family histories, primary care clinicians matched referral guidelines 60.6% of the time, oncologists 66.0% and genetic counselors 82.2%. A structured family-history tool closed most of the difference.5
Lynch syndrome. Universal tumor screening by mismatch repair IHC or MSI on every colorectal and endometrial cancer now outperforms family-history criteria. Endometrial cancer is often the sentinel cancer in women and often isn't recognized as one. The gene matters: PMS2 and MSH6 carriers have later onset and lower penetrance than MLH1 and MSH2.
BRCA1 and BRCA2. Risk-reducing salpingo-oophorectomy after childbearing is the single most effective intervention and reduces mortality. Risk estimates depend on ascertainment: cohorts collected through heavily affected families report higher penetrance than population-based cohorts, and quoting the family-based figure to an incidentally identified carrier overstates it.
Adapted from the Atlas at allaboutgenetics.com, entries rpr04 and rpr03.
Care map
| Role | Year 1, Establish | Year 2, Treat | Year 3, Sustain |
|---|---|---|---|
| Anchor | Three-generation pedigree with ages at diagnosis. A validated brief risk tool to decide who to refer.1 5 Decide who in the family is tested first. | Hold the surveillance calendar. Manage risk-reducing medication. Coordinate surgical decisions. | Annual review of the calendar and of any new cancers in the family. Update the pedigree. |
| Genetics | Multigene panel for the proband with deletion and duplication analysis; counseling before and after. Cascade plan written down with named relatives. | Cascade testing for relatives, with a family letter the proband can send. VUS follow-up. | Reclassification check. Panel update if new genes have entered guidelines. |
| Specialists | High-risk breast clinic, gastroenterology for Lynch, gynecologic oncology, urology for BRCA2 or HOXB13, as the syndrome calls for. | Surgical consultation for risk-reducing surgery. Medical oncology for chemoprevention. Reproductive endocrinology for carriers of reproductive age who want it. | Ongoing per syndrome. |
| Diagnostics | Baseline per syndrome: breast MRI and mammography; colonoscopy from age 20 to 25 for MLH1 and MSH2 carriers, later for MSH6 and PMS2; pelvic ultrasound and endometrial sampling where endorsed; PSA; skin examination.2 3 | Interval imaging per guideline, with colonoscopy every one to two years in Lynch syndrome.2 3 Where guidelines disagree on gastric, pancreatic or urothelial screening, the map records the disagreement and the family's choice.2 | Same calendar, adjusted for age, findings and surgery. |
| Therapies | Pelvic floor or lymphedema therapy after surgery. | As needed. | |
| Behavioral health and nutrition | Counseling for risk disclosure and family communication. | Support through surgical decisions. Aspirin chemoprevention discussed for Lynch carriers, dose per current guidance.2 | As needed. |
| Community | Patient organizations for the syndrome. Family letter template. |
Visit one
The map is the evidence. This is the patient in the room. Every line comes from the Year 1 column and carries its citations.
| Ask | Three-generation pedigree with cancer type and age at diagnosis for every relative, both sides, including the ones who "had something but nobody knows what." Ashkenazi ancestry. Prior testing in anyone in the family, and the actual report if it exists. |
| Decide | Run a validated brief risk tool and apply current referral criteria.1 5 Identify who in the family should be tested first: usually the affected relative, not the worried-well patient in front of you. |
| Order | For the proband: a multigene panel with deletion and duplication analysis, with counseling before and after. If the right person to test is a relative, write the plan down with their name and how they will be reached. |
| Refer | Genetic counseling before testing where the patient wants it or the pedigree is complicated. High-risk breast clinic, gastroenterology, gynecologic oncology or urology as the syndrome calls for, once a result exists. Where: the specialist roster and the counselor roster as it forms. |
| Tell the patient | What a positive, negative and uncertain result each mean for them and for relatives; that a negative in an untested family is uninformative; what surveillance would follow a positive.2 3 |
| Document | The pedigree, the risk tool result, the referral criteria met, who is being tested and why, and the date the cascade plan is reviewed. |
Roster for this cohort
High-risk breast imaging, colonoscopy and upper endoscopy, gynecologic oncology, breast surgery, urology, dermatology, medical oncology and genetic counseling. Forming; propose entries in the cohort channel.
Readings
- GeneReviews: Lynch Syndrome (2021), BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer (revised 2026). University of Washington.
- NCCN Guidelines: Genetic/Familial High-Risk Assessment, Breast, Ovarian, Pancreatic, and Prostate; and Colorectal. Free with registration; the surveillance intervals in this map defer to the current NCCN version.
- The Atlas at allaboutgenetics.com: Lynch syndrome, hereditary breast and ovarian cancer.
References
- US Preventive Services Task Force. Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer: US Preventive Services Task Force recommendation statement. JAMA. 2019;322(7):652-665. doi:10.1001/jama.2019.10987
- McKenzie M, Quinn M, Stockley C, et al. Cancer surveillance in Lynch syndrome: a scoping review of international and national guidelines. Genet Med. 2026;28(9):102610. doi:10.1016/j.gim.2026.102610
- Abu-Freha N, Hozaeel W, Weissmann S, et al. Lynch syndrome: similarities and differences of recommendations in published guidelines. J Gastroenterol Hepatol. 2025;40(3):564-573. doi:10.1111/jgh.16881
- Pederson HJ, Narod SA. Why is genetic testing underutilized worldwide? The case for hereditary breast cancer. BJC Rep. 2024;2(1):73. doi:10.1038/s44276-024-00099-x
- Ritchie JB, Welch BM, Allen CG, et al. Comparison of a cancer family history collection and risk assessment tool, ItRunsInMyFamily, with risk assessment by health-care professionals. Public Health Genomics. 2022;25(3-4):80-88. doi:10.1159/000520001
References retrieved from PubMed on 2026-10-30. Care maps are peer-authored clinical frameworks for network members, not individualized medical advice, and are reviewed at each yearly cycle.