Cancer Risk Assessment: Examining the Family Physician’s Role

Carl V. Tyler; Clint W. Snyder

doi:10.3122/jabfm.19.5.468

Article Figures & Data

Tables

View popup

Table 1.

Risk Assessment Criteria⁵

BREAST-OVARIAN
Non-Jewish families	Any of the following:
High-risk breast-ovarian	1 case of breast cancer <40 years in an FDR^* or SDR
	1 FDR or SDR with both breast and ovarian cancer, at any age
	>2 cases of breast cancer in FDRs or SDRs if one is diagnosed at <50 years or is bilateral
	1 FDR or SDR with breast cancer diagnosed at <50 years or bilateral and 1 FDR or SDR with ovarian cancer
	3 cases of breast and ovarian cancer (at least one case of ovarian cancer) in FDRs and SDRs
	2 cases of ovarian cancer in FDRs and SDRs
	1 case of male breast cancer in an FDR or SDR if another FDR or SDR has (male or female) breast or ovarian cancer
Moderate-risk breast	Any of the following:
	2 FDRs if both diagnosed between 51 and 60 years
	1 FDR and SDR (mother or sister and maternal aunt or maternal grandmother), if sum of their ages is <118 years
Moderate-risk ovarian	1 FDR with ovarian cancer

Jewish families	Any of the following:
High-risk breast-ovarian	>1 case of breast cancer <50 years in an FDR or SDR
	>1 case of ovarian cancer at any age in an FDR or SDR
	>1 FDR or SDR with breast cancer at any age if another FDR or SDR has breast and/or ovarian cancer at any age
	>1 case of male breast cancer in an FDR or SDR
COLON
High-risk HNPCC	Any of the following:
	3 FDRs or SDRs affected with any HNPCC-associated cancers^†; all cases can occur in one generation, no age restriction
	1 FDR or SDR with two or more HNPCC-associated cancers^†
	1 FDR with CRC <50 years
Moderate-risk colon	1 FDR with CRC >50 years and one SDR with CRC at any age
	2 FDRs with CRC >50 at any age
POLYPOSIS	Any FDR or SDR with >10 polyps
PROSTATE
High-risk prostate	Any of the following:
	3 relatives affected, any age
	2 relatives affected (2 FDRs or 1 FDR and 1 SDR), one diagnosed at <60 years
Moderate-risk prostate	Any of the following:
	1 FDR diagnosed at <60 years
	2 FDRs with PC diagnosed at >60 years
	1 FDR and one SDR with PC diagnosed at >60 years
MELANOMA
High risk melanoma	3 FDRs or SDRs affected with melanoma and or pancreatic cancer, at least 2 generations (must include more than one case of melanoma) 1 FDR or SDR with multiple primary melanomas
Moderate-risk melanoma	>1 FDR with melanoma
LI-FRAUMENI SYNDROME
High-risk Li-Fraumeni	All of the following:
	1 FDR or SDR with sarcoma, brain, or adrenal cancer diagnosed at <45 years;
	And
	1 FDR or SDR with sarcoma, breast, brain, adrenal or leukemia at any age;
	And
	1 FDR or SDR with any cancer diagnosed at <60 years
MULTIPLE ENDOCRINE NEOPLASIAS/THYROID CANCER
High-risk MEN 1	2 cases of pancreatic (islet cell) cancer, parathyroid (hyperplasia), and/or pituitary adenoma in FDRs or SDRs (can be same person)
High-risk thyroid/MEN 2	Any of the following:
	2 cases of thyroid cancer in FDRs or SDRs
	1 FDR or SDR with thyroid cancer and 1 FDR or SDR with parathyroid (hyperplasia) or adrenal cancer (can be same person)
Moderate-risk thyroid	1 FDR with thyroid cancer
FAMILIAL AGGREGATION OF OTHER CANCERS
High-risk cluster	Any of the following:
	3 cases of the following cancers in one genetic lineage: bladder, brain, endometrial, esophageal, kidney, lung, mouth, or throat; multiple myeloma, pancreatic, sarcoma, stomach, or other skin cancers, testicular, hematological malignancies ( in FDRs or SDRs)
SINGLE CASES OF CANCER REQUIRING CANCER GENETICS CONSULTATION
A single case of:	Medullary thyroid cancer, adrenocortical carcinoma, pheochromocytoma, paraganglioma, Wilms’ tumor, or retinoblastoma

* FDR, first degree relative; CRC, colorectal cancer; HNPCC, hereditary non-polyposis colon cancer; MEN, multiple endocrine neoplasia; PC, prostate cancer; SDR, second degree relative.
† HNPCC-associated cancers. Colorectal, endometrial, stomach, ovary, small bowel, pancreas, ureter, or renal pelvis (as ureter and renal pelvis are too specialized to include on general screening questionnaire, ′kidney′ can be accepted in lieu of these subtypes).

View popup

Table 2.

Association of Patient and Physician Characteristics with Detail of Family Cancer History

Characteristic	Family Cancer History (N = 271)			P Value
Characteristic	Inadequate	Adequate	Comprehensive	P Value
Patient Gender
Female	107 (64.5%)	43 (25.9%)	16 (9.6%)	.275
Male	64 (61%)	35 (33.3%)	6 (5.7%)
Personal History of Cancer
Present	6 (50%)	1 (8.3%)	5 (41.7%)	.001
Absent	165 (63.7%)	77 (29.7%)	17 (6.6%)
Patient age
Pediatric (0 to 21)	56 (86.2%)	7 (10.8%)	2 (3.1%)
Adult (22 to 65)	107 (57.2%)	62 (33.2%)	18 (9.6%)	.001
Geriatric (>65)	8 (42.1%)	9 (47.4%)	2 (10.5%)
Duration of care
Less than 5 years	72 (63.2%)	33 (28.9%)	9 (7.9%)
Greater than 5 years	99 (63.1%)	45 (28.7%)	13 (8.3%)	.993
Genogram
Present	10 (52.6%)	7 (36.8%)	2 (10.5%)	.626
Absent	160 (63.7%)	71 (28.3%)	20 (8%)
Physician gender
Female	62 (71.3%)	19 (21.8%)	6 (6.9%)	.154
Male	109 (59.2%)	59 (32.1%)	16 (8.7%)
Physician status
Resident	137 (67.2%)	51 (25%)	16 (7.8%)
Faculty	34 (50.7%)	7 (40.3%)	6 (9%)	.042

View popup

Table 3.

Colon Cancer Screening Recommendations for People With Familial Risk or Inherited Risk⁶

Familial Risk Category	Screening Recommendation	Proportion Adherent to Screening Recommendation
FDR^* with CRC or AP at age ≥ 60 years	Same as average risk but starting at age 40 years	7/12 (58%)
2 SDRs with CRC
2 or more FDRs with CRC; FDR with CRC or AP <60 years	Colonoscopy every 5 years, beginning at 40 years or 10 years younger than earliest diagnosis in the family, whichever comes first	0/3 (0%)
1 SDR or any TDR with CRC	Same as average risk	4/4 (100%)
Gene carrier or at risk for FAP	Sigmoidoscopy annually, beginning age 10 to 12 years	None
Gene carrier of at risk for HNPCC	Colonoscopy, every 1 to 2 years, beginning age 20 to 25 years or 10 years younger than the earliest case in the family, whichever comes first	0/3 (0%)

* FDR, first degree relative; CRC, colorectal cancer; AP, adenomatous polyp; SDR, second degree relative; TDR, third degree relative; FAP, familial adenomatous polyposis; HNPCC, hereditary nonpolyposis colorectal cancer.

View popup

Table 4.

Cases at Moderate or High Genetic Risk for Cancer*

Cancer Type	Genetic Risk	Criteria	↑ Risk Noted by PCP^†
Breast-ovarian	High	Index patient with bilateral breast CA, onset <40 years	No
Breast-ovarian	High	SDR with both breast and ovarian CA	No
Breast	Moderate	1 FDR and 1 SDR, sum of ages <118 years	Yes
Colon	High	1 FDR with CRC <50 years and 1 FDR with CRC and 1 SDR with CRC	No
Colon	High	SDR with CRC and SDR with endometrial CA and SDR with ovarian CA	No
Colon	High	3 SDRs with CRC	Yes
Colon	High	FDR with pancreatic CA and 2 SDRs with endometrial CA	No
Colon	Moderate	2 FDRs with CRC	Yes
Prostate	Moderate	FDR <60 years	No
Melanoma	High	Index patient with multiple primary melanomas	No

* As determined by Hampel et al criteria.⁵
† PCP, primary care physician; CA, cancer; FDR, first degree relative; SDR, second degree relative; CRC, colorectal cancer.