Abstract
We address the issue of modifiers of risk for persons who are, on average, at high risk of colorectal cancer due to carrying germline genetic mutations. We discuss how to estimate risk and assess modifiers using data from mutation-carrying families. A critical analytical issue is the adjustment for how families have been sampled (ascertainment). Only a few published studies have made appropriate adjustments and have mostly reported life-time risks of less than 50%. Incomplete penetrance and differences in risk by subcategories are consistent with the existence of genetic and/or environmental risk modifiers. Data from large cohorts of carriers are required to study such modifiers with precision.
| Original language | English |
|---|---|
| Pages (from-to) | 202-207 |
| Number of pages | 6 |
| Journal | Current Oncology Reports |
| Volume | 9 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - 1 May 2007 |
| Externally published | Yes |
Cite this
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Rationale for, and approach to, studying modifiers of risk in persons with a genetic predisposition to colorectal cancer. / Jenkins, Mark A.; Southey, Melissa C.; Giles, Graham G.; Hopper, John L.
In: Current Oncology Reports, Vol. 9, No. 3, 01.05.2007, p. 202-207.Research output: Contribution to journal › Review Article › Research › peer-review
TY - JOUR
T1 - Rationale for, and approach to, studying modifiers of risk in persons with a genetic predisposition to colorectal cancer
AU - Jenkins, Mark A.
AU - Southey, Melissa C.
AU - Giles, Graham G.
AU - Hopper, John L.
PY - 2007/5/1
Y1 - 2007/5/1
N2 - We address the issue of modifiers of risk for persons who are, on average, at high risk of colorectal cancer due to carrying germline genetic mutations. We discuss how to estimate risk and assess modifiers using data from mutation-carrying families. A critical analytical issue is the adjustment for how families have been sampled (ascertainment). Only a few published studies have made appropriate adjustments and have mostly reported life-time risks of less than 50%. Incomplete penetrance and differences in risk by subcategories are consistent with the existence of genetic and/or environmental risk modifiers. Data from large cohorts of carriers are required to study such modifiers with precision.
AB - We address the issue of modifiers of risk for persons who are, on average, at high risk of colorectal cancer due to carrying germline genetic mutations. We discuss how to estimate risk and assess modifiers using data from mutation-carrying families. A critical analytical issue is the adjustment for how families have been sampled (ascertainment). Only a few published studies have made appropriate adjustments and have mostly reported life-time risks of less than 50%. Incomplete penetrance and differences in risk by subcategories are consistent with the existence of genetic and/or environmental risk modifiers. Data from large cohorts of carriers are required to study such modifiers with precision.
UR - http://www.scopus.com/inward/record.url?scp=34248337884&partnerID=8YFLogxK
U2 - 10.1007/s11912-007-0022-3
DO - 10.1007/s11912-007-0022-3
M3 - Review Article
C2 - 17430691
AN - SCOPUS:34248337884
VL - 9
SP - 202
EP - 207
JO - Current Oncology Reports
JF - Current Oncology Reports
SN - 1534-6269
IS - 3
ER -