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Male BRCA carriers at risk for melanoma, pancreatic cancer

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April 13, 2018

It may be appropriate to screen for melanoma and pancreatic cancer in addition to prostate and breast cancer among men carrying BRCA mutations, according to a research letter published in JAMA Oncology.

“Men with germline mutations in BRCA1 and BRCA2 genes have a higher risk [for] developing malignant abnormalities of the prostate, pancreas, breast, colon and melanoma,” David Margel, MD, PhD, associate professor in the department of urology at Rabin Medical Center in Israel, and colleagues wrote.

“In contrast to protocols for women, current screening protocols for men who are BRCA carriers are based on low-level evidence,” they added. “Previous studies evaluating cancer screening in these men focused on prostate cancer rather than all BRCA-associated malignant diseases.”

The researchers screened 196 male BRCA carriers (median age, 49 years) — 117 BRCA1 carriers (60%) and 79 BRCA2 carriers (40%) — between February 2014 and February 2017 for breast, prostate, colorectal, pancreatic and skin cancers. Researchers then calculated standardized incidence ratios to compare incidence with that of the Israeli Jewish male population according to the Israeli National Cancer Registry.

Common mutations included 185delAG in BRCA1 carriers (n = 87; 74%) and 617delIT in BRCA2 carriers (n = 67; 85%).

Thirty-four patients (17%) were diagnosed with 46 malignancies. Of these, 13 (28%) were identified during screening.

Median age at the time of first cancer diagnosis was 54 years. Those diagnosed had a median of three malignancies each, with seven patients having more than one malignant abnormality.

Prostatic adenocarcinoma was the most common malignant abnormality, occurring in 10 BRCA1 carriers (8.6%) and three BRCA2 carriers (3.8%).

Initial screenings identified nine malignant abnormalities of the prostate, two of the pancreas and two of the skin. All of these patients received curative treatment.

Men with BRCA mutations demonstrated a significantly increased overall incidence of cancer compared with the larger Jewish-Israeli male population (SIR = 8; 95% CI, 5.74-10.85). Harboring BRCA mutations appeared linked with a greater incidence of melanoma, as well as prostate, pancreas and breast cancer, but not with a greater incidence of colon cancer.

“Our initial findings suggest that in addition to screening for prostate and breast cancer, as recommended in current guidelines, there may be a role for screening for pancreatic cancer and melanoma, whereas screening for colon cancer may not be justified,” the researchers wrote. “Further long-term studies are needed to determine the effect of screening on mortality.” – by Andy Polhamus

Disclosures: The authors report no relevant financial disclosures.