DELRAY BEACH, FL – Hereditary breast and ovarian cancer, associated with BRCA1 and BRCA2 variations, are two of the most well-studied among all the hereditary cancer syndromes.  This abundant research has allowed for the creation and availability of precision treatment and targeted therapy for BRCA-positive patients; however, with the discovery of additional pathogenic variations (PV) in other syndromic genes, BRCA-negative patients with known patient PVs still require an individualized secondary prevention plan, allowing the physician to detect and treat cancer early.

Secondary prevention involves strategies to discover cancerous lesions at an initial stage to allow for treatment to be more effective and raise the chance of survival.¹ After a guideline-based multi-gene panel has been completed, which must include BRCA1/2, TP53, PTEN, CDH1, STK11, NF1, PALB2, ATM, CHEK2, NBN, BRIP1, RAD51C, and RAD51D, many cancer patients are positive for a hereditary pathogenic variant, other than BRCA. This could affect their health outcome and increase their risk of cancer.

EXAMPLES OF GENERAL SECONDARY PREVENTION RECOMMENDATIONS FOR SPECIFIC GENES¹

TP53 – higher risk for breast (clinical examination every 6-12 months, MRI screening with contrast annually), CNS (neurologic exam annually, Brain MRI annually), sarcomas (whole body MRI annually, ultrasound of abdomen and pelvis annually)

PTEN – higher risk for breast (clinical examination every 6-12 months, mammogram and MRI with contrast annually), thyroid (ultrasound annually), endometrium (biopsy every 1-2 years), colorectal (colonoscopy every 5 years), kidney (CT or MRI of abdomen every 1-2 years), melanoma (dermatologic exam annually)

STK11 – higher risk for colorectal (colonoscopy every 2-3 years), stomach (upper endoscopy every 2-3 years), small bowel (capsule endoscopy every 2-3 years), pancreas (MR cholangiopancreatography with contrast or endoscopic ultrasound every 1-2 years), breast (clinical examination every 6 months, mammogram, and MRI with contrast annually), ovary/cervix/uterus (transvaginal ultrasound, serum CA 125, pelvic exam with pap smear annually), testis (testicular examination annually)

PALB2 – higher risk for breast (mammogram and breast MRI with contrast annually)

These non-BRCA cancer syndrome genes have lifetime risk of cancer as high as 85%.¹ Secondary prevention strategies specific to patient genotype will individualize treatment plans, enhance patient safety, and increase chance of survival.