Mismatch Repair Polymorphisms as Markers of Breast Cancer Prevalence in the Breast Cancer Family Registry (NY)

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Materials and Methods

Study population. We selected participants enrolled in the New York site of the BCFR with available DNA (8-18). Enrollment eligibility for participants in the parent study included having to meet one of the following criteria: i) A female relative who had been diagnosed with either breast or ovarian cancer prior to the age of 45; ii) A female relative who has been diagnosed with breast and ovarian cancer at any age; iii) Two or more female relatives who had been diagnosed with breast or ovarian cancer after the age of 45; iv) A male relative diagnosed with breast cancer at any age; v) A known carrier of BRCA1 or 2 mutation. We used data collected at baseline through epidemiologic and family history questionnaires on demographics, ethnicity, history of all cancers, smoking, alcohol consumption, reproductive history, hormone use, height, weight, physical activity and dietary intake. Blood was collected at the time of recruitment, on average 5 years after diagnosis of cases (19). The current study includes 313 sister-sets (n=744) consisting of sisters discordant for breast cancer.

 In conclusion, in our family-based case-control study, we observe an increase in breast cancer risk due to alleles typically associated with Lynch syndrome cancers. These findings suggest that, while polymorphisms in MMR have, thus far, not been associated with sporadic breast cancer, deficiencies in this pathway may be relevant in familial breast cancer.