Researchers confirm genetic link between hereditary breast and prostate cancer

A new study shows that the risk for prostate cancer is significantly elevated in men who are part of families with a hereditary form of breast and ovarian cancer. Researchers at Memorial Sloan-Kettering Cancer Center have determined that men in families carrying BRCA genetic mutations have a three- to five-fold increased risk of prostate cancer.

“While the association between hereditary breast and prostate cancer has been suspected, this is the first study of its type to confirm the link,” said Kenneth Offit, MD, Chief of the Clinical Genetics Service at Memorial Sloan-Kettering and senior author of the study, which is published in the May 1 issue of Clinical Cancer Research.

Researchers obtained DNA specimens from 251 men of Eastern European (Ashkenazi) Jewish ancestry who had prostate cancer but were otherwise unselected on the basis of personal or family history. The blood samples were tested for mutations of the BRCA1 and BRCA2 genes and compared to specimens taken from 1,472 healthy men. Investigators pinpointed BRCA2 – not BRCA1 – as the common genetic link to prostate cancer.

The results show that the frequency of certain BRCA1 and BRCA2 mutations was 5.2 percent in the prostate cancer cases compared to 1.9 percent in the healthy volunteers. When stratified by gene, the risk for prostate cancer was 4.8 times higher in carriers of a specific BRCA2 mutation than in the healthy individuals tested.

“While the participants in the study were of Ashkenazi Jewish ancestry, the results may apply to all individuals with BRCA2 mutations,” said Noah Kauff, MD, a gynecologist and geneticist at Memorial Sloan-Kettering and a co-author of the study.

The study authors point out that the age of onset of prostate cancer in men carrying these mutations was no different than in most men diagnosed with prostate cancer in the general population. “Since the age of onset for prostate cancer in men carrying the BRCA2 mutation does not appear to be earlier than in the general population, this would indicate that prostate cancer screening may begin at age 50, as is recommended in the general population, assuming the findings are confirmed in future studies” said Sherri Donat, MD, a urologic surgeon at Memorial Sloan-Kettering and co-author of the study.

The American Cancer Society recommends for men at average risk that prostate cancer screening with serum PSA testing and regular examinations be offered beginning at age 50.

The study’s co-investigators also include Tomas Kirchhoff (first author), Nandita Mitra, Khedoudja Nafa, Helen Huang, Crystal Palmer, Tony Gulati, Eve Wadsworth, Mark Robson, and Nathan Ellis, all of Memorial Sloan-Kettering.

Memorial Sloan-Kettering Cancer Center is the world’s oldest and largest institution devoted to prevention, patient care, research and education in cancer. Our scientists and clinicians generate innovative approaches to better understand, diagnose, and treat cancer. Our specialists are leaders in biomedical research and in translating the latest research to advance the standard of cancer care worldwide.