Familial Breast Cancer Risk: When does earlier breast cancer screening make sense?

Breast cancer is the most common cancer in women, accounting for a quarter of all new cancer cases and 15 percent of all cancer deaths among women worldwide. The reduction in breast cancer mortality observed in Europe over the last two decades can be partly attributed to the implementation of screening programs. Screening can detect tumors at an early stage, when treatment options are more effective. The current practice in many national screening programs is broadly consistent: women aged 50 to 69 are invited to participate in a mammographic examination every two years. For women with genetic risk factors for breast cancer (e.g. BRCA1, BRCA2 or PALB2 mutations), the guidelines for high-risk women already recommend an early start of screening.

The risk of breast cancer in family members of patients varies considerably depending on the age of the individual, the number of affected relatives and the age at which the relatives are diagnosed. „A sufficiently large database has so far been missing in order to differentiate and precisely estimate the age at which patients with family history of breast cancer should start screening, depending on the age at diagnosis of breast cancer in the relative, and the type and the degree of the family relation. The present cohort study, which is to our knowledge the world’s largest one on familial breast cancer, has now closed this gap, „says Hermann Brenner, Head of the Division of Preventive Oncology at the DKFZ and NCT Heidelberg.

The researchers, in collaboration with colleagues from the University of Lund, evaluated the data of all women living in Sweden who were born after 1931. During the study period (1958-2015), 118,953 women were diagnosed with breast cancer. 16,202 (13.6%) of them had relatives with breast cancer at the time of their own diagnosis. Familial risk was associated with the number of affected relatives and age of diagnosis of first and second-degree relatives. Based on this information, the scientists have identified risk-adapted starting ages of breast cancer screening in women with varying degrees of family history. They compared the risk-adjusted age of initial breast cancer screening with the recommended starting age in existing guidelines.

„We found that the risk of breast cancer varied widely depending on the number of affected first- and second-degree relatives. The age at onset of cancer in only first-degree relatives had also an impact. Therefore, the starting age of screening should be tailored to these factors. Our results can serve as high-quality evidence to supplement current screening guidelines for women with family history of breast cancer“ said Elham Kharazmi, co-leader of the study and a scientist in the Division of Preventive Oncology .

„We are proposing a new detailed strategy for the future assessment of familial breast cancer risk and especially the recommendation for when breast cancer screening should start in women with family history of breast cancer.“; Mahdi Fallah, the study leader and Head of Risk-Adapted Prevention Group, explains, „For example, a woman whose sister is diagnosed with breast cancer at age 43 years, has a risk of breast cancer equal to the risk in 50-year-old women, at age 38 years (twelve years earlier). An earlier start for breast cancer screening should therefore be offered to her. This type of personalized risk calculation, in addition to taking other risk factors into account, could help a timely breast cancer detection based on women’s individual risk.“

The study results provide useful information for the counselling of close and distant relatives of patients with breast cancer. The findings can additionally help physicians in their practice assess the age for initial breast cancer screening taking their individual’s risk into consideration.

T. Mukama, E. Kharazmi, X. Xu; K. Sundquist, J. Sundquist, H. Brenner, M. Fallah: Risk-adapted starting age of screening for relatives of patients with breast cancer. JAMA Oncology, 2020; 6(1):1-8. https://doi.org/10.1001/jamaoncol.2019.3876

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National Center for Tumor Diseases Heidelberg (NCT)
The National Center for Tumor Diseases (NCT) Heidelberg is a joint institution of the German Cancer Research Center, Heidelberg University Hospital (UKHD) and German Cancer Aid. The NCT’s goal is to link promising approaches from cancer research with patient care from diagnosis to treatment, aftercare and prevention. This is true for diagnosis and treatment, follow-up care or prevention. The interdisciplinary tumor outpatient clinic is the central element of the NCT. Here, the patients benefit from an individual treatment plan prepared in interdisciplinary expert rounds, so-called tumor boards. Participation in clinical studies provides access to innovative therapies. The NCT thereby acts as a pioneering platform that translates novel research results from the laboratory into clinical practice. The NCT cooperates with self-help groups and supports them in their work. Since 2015, the NCT Heidelberg has maintained a partner site in Dresden. The Hopp Children’s Cancer Center (KiTZ) was established in Heidelberg in 2017. The pediatric oncologists at KiTZ work together in parallel structures with the NCT Heidelberg.

German Cancer Research Center (DKFZ)
The German Cancer Research Center (Deutsches Krebsforschungszentrum, DKFZ) with its more than 3,000 employees is the largest biomedical research institution in Germany. At DKFZ, more than 1,300 scientists investigate how cancer develops, identify cancer risk factors and endeavor to find new strategies to prevent people from getting cancer. They develop novel approaches to make tumor diagnosis more precise and treatment of cancer patients more successful.
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Heidelberg University Hospital (UKHD) is one of the most important medical centers in Germany; Heidelberg University’s Medical Faculty is one of Europe’s most prestigious biomedical research facilities. Their shared objective is the development of innovative diagnostics and treatments and their prompt implementation for the benefit of the patient. The hospital and faculty employ approximately 13,000 individuals and are involved in training and qualification. Every year approximately 65,000 patients are treated as inpatients and 56,000 as day patients in more than 50 specialized clinical departments with around 2,000 beds, with more than 1 million patients being treated as outpatients. Together with the German Cancer Research Center and German Cancer Aid, the Heidelberg University Hospital established The National Center for Tumor Diseases (NCT) Heidelberg as the leading oncology center of excellence in Germany. The Heidelberg Curriculum Medicinale (HeiCuMed) is at the forefront of medical training in Germany. At present 3,700 aspiring physicians and doctors are studying in Heidelberg.

contact for scientific information:
E. Kharazmi, H. Brenner, M. Fallah

original publication:
T. Mukama, E. Kharazmi, X. Xu; K. Sundquist, J. Sundquist, H. Brenner, M. Fallah: Risk-adapted starting age of screening for relatives of patients with breast cancer. JAMA Oncology, 2020; 6(1):1-8. https://doi.org/10.1001/jamaoncol.2019.3876

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