Description of the Breast Cancer Family Registry

The Breast Cancer Family Registry: An Infrastructure for Cooperative Multinational, Interdisciplinary and Translational Studies of the Genetic Epidemiology of Breast Cancer

John EM, Hopper JL, Beck JC, Knight JA, Neuhausen SL, Senie RT, Ziogas A, Andrulis IL, Anton-Culver H, Boyd N, Buys SS, Daly MB, O’Malley FP, Santella RM, Southey MC, Venne VL, Venter DJ, West DW, Whittemore AS, Seminara S, for the Breast Cancer Family Registry.  Breast Cancer Res. 2004;6(4):R375-89.

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Highlights from Recent Publications

Genome-wide association study of breast cancer in Latinas identifies novel protective variants on 6q25

Fejerman L, Ahmadiyeh N, Hu D, Huntsman S, Beckman KB, Caswell JL, Tsung K, John EM, Torres-Mejia G, Carvajal-Carmona L, Echeverry MM, Tuazon AM, Ramirez C; COLUMBUS Consortium, Gignoux CR, Eng C, Gonzalez-Burchard E, Henderson B, Marchand LL, Kooperberg C, Hou L, Agalliu I, Kraft P, Lindström S, Perez-Stable EJ, Haiman CA, Ziv E; COLUMBUS Consortium. Nat Commun. 2014 Oct 20;5:5260.

Latina women have a lower incidence of breast cancer compared to non-Latina whites and lifestyle and hormonal factors alone do not fully explain the difference in cancer rates by ethnicity. Furthermore, breast cancer risk is lower among Latinas with more Indigenous American ancestry than among those with less Indigenous American ancestry.

A recent study of Latina women enrolled in the Northern California Family Registry and other parts of California discovered that a single difference in just one of the three billion letters of biochemical DNA code in the human genome was associated with a lower risk of breast cancer. Those who inherited a copy of this genetic alteration were 40% less likely to be diagnosed with breast cancer. The protection was even stronger for estrogen receptor (ER) negative disease which has worse prognosis than ER positive breast cancer. Researchers found that the genetic alteration is present in 5-15% of Latin American populations, depending on the proportion of Indigenous American ancestry, whereas, in other racial/ethnic groups, it is very rare or absent. The findings from this study were also confirmed in DNA samples from women in Mexico and Columbia.

This study emphasizes the importance of understanding the genetics of breast cancer in all racial/ethnic groups, as genetic factors may differ between populations.

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Reproductive risk factors and oestrogen/progesterone receptor-negative breast cancer in the Breast Cancer Family Registry

Work ME, John EM, Andrulis IL, Knight JA, Liao Y, Mulligan AM, Southey MC, Giles GG, Dite GS, Apicella C, Hibshoosh H, Hopper JL, Terry MB. Br J Cancer. 2014 Mar 4;110(5):1367-77.

ER/PR negative breast cancer is associated with poorer prognosis compared with other breast cancer subtypes. It has been long known that high parity (large number of live births) is associated with a lower risk of ER/PR positive breast cancer, the most common breast cancer subtype. Recent studies, however, have shown that high parity is associated with an increased risk of ER/PR negative cancer. New evidence points to breastfeeding as a factor that may reduce this increased risk.

In this Family Registry study, reproductive risk factors in more than 4,000 women with breast cancer were compared to reproductive factors in about 3,000 women without breast cancer. Women with 3 or more live births who never breastfeed had an approximately 50% higher risk of being diagnosed with ER/PR negative breast cancer. No increased risk, however, was found in women with high parity and a history of breastfeeding. Oral contraceptive (OC) use before 1975 was associated with a 30% increased risk of ER-PR- cancer. For women who began OC use in 1975 or later, there was no evidence of increased risk.

This report’s findings emphasize that there are modifiable factors for ER/PR negative breast cancer, a subtype for which few risk factors have been identified. Breastfeeding in particular may lessen the increased risk of ER/PR negative tumors seen in women with high parity. This finding is particularly important for African American women who are more likely to be diagnosed with ER/PR negative breast cancer than other racial/ethnic groups.

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Selected Publications

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