Managing patients at genetic risk of breast cancer

Article Figures & Data

TABLE 1

Hereditary breast cancer syndromes

Syndrome	Gene	Breast cancer risk	Other cancer risks	Incidence
Hereditary breast and ovarian cancer	BRCA1 BRCA2	43%¹⁷–85%⁸	Ovarian, male breast, prostate, pancreatic, melanoma (BRCA2)	1:400-800^7,18
Cowden	PTEN	77%-85%^11,12,19	Uterine, renal cell, colorectal, thyroid, melanoma	1:200,000¹³
Li-Fraumeni	TP53	Undefined, but > 20%	Sarcoma, brain, adrenocortical carcinoma, others. Up to 100% all-site lifetime cancer risk	1:20,000²⁷
Peutz-Jeghers	STK11	45%-54%^14,15	GI tract, pancreas, lung, gonadal, adenoma malignum of the cervix	1 in 50,000-200,000¹⁶
Hereditary diffuse gastric cancer	CDH1	39%-52%^{^a,9,10}	Gastric (diffuse)	Unknown; 1%-3% of gastric cancers²⁰

TABLE 2

Summary of breast cancer screening guidelines

Modality	Hereditary breast and ovarian cancer syndrome and hereditary diffuse gastric cancer^a		Cowden syndrome (PTEN hamartoma tumor syndrome)		Li-Fraumeni syndrome		Peutz-Jeghers syndrome
Modality	Onset (years)	Timing	Onset (years)	Timing	Onset (years)	Timing	Onset (years)	Timing
Breast self-awareness and examination	18	Monthly	18	Monthly	18	Monthly	18	Monthly
Clinical breast examination	25	Every 6-12 months	25^b	Every 6-12 months	20-25^b	Every 6-12 months	25	Semiannually
Mammography	30^c	Annually	30-35^b	Annually	30^c	Annually	30	Annually
Breast MRI	25^c	Annually	30-35^b	Annually	20-29	Annually	25	Annually

↵a The National Comprehensive Cancer Network recommends following hereditary breast and ovarian cancer syndrome management for breast cancer risk in hereditary diffuse gastric cancer
↵b Or 5-10 years before the earliest known breast cancer in the family, whichever is earlier
↵c Individualized on the basis of family history
Information from references 6, 26, and 28.