Society of Gynecologic Oncologists Education Committee statement on risk assessment for inherited gynecologic cancer predispositions.
Women with germline mutations in the cancer susceptibility genes, BRCA1 or BRCA2, associated with Hereditary Breast/Ovarian Cancer syndrome, have up to an 85% lifetime risk of breast cancer and up to a 46% lifetime risk ovarian cancer. Similarly, women with mutations in the DNA mismatch repair genes, MLH1, MSH2 or MSH6, associated with the Lynch/Hereditary Non-Polyposis Colorectal Cancer (HNPCC) syndrome, have up to a 40-60% lifetime risk of both endometrial and colorectal cancer as well as a 9-12% lifetime risk of ovarian cancer. Genetic risk assessment enables physicians to provide individualized evaluation of the likelihood of having one of these gynecologic cancer predisposition syndromes, as well the opportunity to provide tailored screening and prevention strategies such as surveillance, chemoprevention, and prophylactic surgery that may reduce the morbidity and mortality associated with these syndromes. Hereditary cancer risk assessment is a process that includes assessment of risk, education and counseling conducted by a provider with expertise in cancer genetics, and may include genetic testing after appropriate consent is obtained. This commentary provides guidance on identification of patients who may benefit from hereditary cancer risk assessment for Hereditary Breast/Ovarian Cancer and the Lynch/Hereditary Non-Polyposis Colorectal Cancer syndrome.
Lancaster
Johnathan M
JM
H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL, USA.
Powell
C Bethan
CB
Kauff
Noah D
ND
Cass
Ilana
I
Chen
Lee-May
LM
Lu
Karen H
KH
Mutch
David G
DG
Berchuck
Andrew
A
Karlan
Beth Y
BY
Herzog
Thomas J
TJ
D001943:Breast Neoplasms / Q000453:epidemiology* / Q000235:genetics* / Q000517:prevention & control; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000453:epidemiology* / Q000235:genetics* / Q000517:prevention & control; D003376:Counseling; D053843:DNA Mismatch Repair; D016889:Endometrial Neoplasms / Q000453:epidemiology / Q000235:genetics; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D005833:Genital Neoplasms, Female / Q000453:epidemiology* / Q000235:genetics* / Q000517:prevention & control; D018095:Germ-Line Mutation; D006801:Humans; D010051:Ovarian Neoplasms / Q000453:epidemiology / Q000235:genetics; D011159:Population Surveillance; D018570:Risk Assessment; D012307:Risk Factors