open access: Breast Cancer Research | Abstract | Risk of breast cancer in Lynch syndrome: a systematic review

open access

Introduction
Lynch syndrome, formerly known as Hereditary Nonpolyposis Colorectal Cancer (HNPCC) [1], is an autosomal dominantly inherited disorder of cancer susceptibility caused by germline mutations in the DNA mismatch repair (MMR) genes, MLH1, MSH2, MSH6 and
PMS2. The prevalence of individuals who carry a pathogenic germline mutation in one of these genes in the population is estimated to be, depending on various assumptions, from 1 in 370 to 1 in 3,000 [2-4]. Though rare, mutation carriers have a substantial burden of
increased risks of cancers of the colon, rectum, endometrium, stomach, ovary, ureter, renal pelvis, brain, small bowel, and hepatobiliary tract which generally occur at younger ages than for the general population [5].......

"....There is only one prospective study demonstrating an elevated risk of breast cancer in Lynch syndrome and further independent
evidence is required to confirm the findings. Given the previous epidemiological studies used different selection methods, subjects and statistical methods, a meta-analysis is not appropriate to generate a pooled estimate for breast cancer risk.....

Conclusions

Since breast cancer is relatively common disease in the general population, more precise estimate of risk and gene-specific risks will need to utilize large prospective cohort studies with a long follow-up. While current data is inconclusive at a population level, individual tumor testing results suggest that MMR deficiency is involved with breast cancers in some individuals with Lynch syndrome.

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