- Recognizing family history patterns associated with specific gene mutations is important:
- A family history of invasive lobular cancer and gastric cancer:
- May be associated with CDH1 mutations
- These mutations confer a 6.6 times greater risk of breast cancer than the general population:
- And are associated with a high risk of hereditary diffuse gastric cancer (55% to 80%)
- These mutations confer a 6.6 times greater risk of breast cancer than the general population:
- May be associated with CDH1 mutations
- Patients with CDH1 mutations:
- Should be offered prophylactic gastrectomy
- Consideration of bilateral prophylactic mastectomy:
- Based on family history
- If surgery is not pursued, guidelines for screening for gastric cancer include:
- Yearly endoscopic surveillance with random mucosal biopsies;
- Breast screening consists of:
- Annual mammogram and breast MRI
- A family history of invasive lobular cancer and gastric cancer:
- References:
- Hansford S, Kaurah P, Li-Chang H, Woo M, Senz J, Pinheiro H, et al. Hereditary diffuse gastric cancer syndrome: CDH1 mutations and beyond. JAMA Oncol. 2015;1(1):23-32.
- Weiss A, Garber JE, King T. Breast cancer surgical risk reduction for patients with inherited mutations in moderate penetrance genes. JAMA Surg. 2018;153(12):1145-1146
- van der Post RS, Vogelaar IP, Carneiro F, Guilford P, Huntsman D, Hoogerbrugge N, et al . Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers. J Med Genet. 2015;52(6):361-374.
- National Comprehensive Cancer Network Guidelines. Genetic/familial high-risk assessment: breast and ovarian, Version 1/2018. https://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf. Accessed November 9, 2019.
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Rodrigo Arrangoiz MS, MD, FACS, FSSO 