Prenatal diagnosis to exclude FAP in a high risk pregnancy

Dalton, A. Mark; Shannon, Nora; Johnson, Moya; Cook, Jocelynn L.

doi:10.1002/(sici)1097-0223(199807)18:7<756::aid-pd315>3.0.co;2-s

Cited by 5 publications

(1 citation statement)

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“…The first report of prenatal testing for FAP was published in 1998 (47). In a high proportion of cases, prenatal diagnosis of FAP can be performed using linkage or mutational analysis.…”

Section: Prenatal Diagnosis In Fapmentioning

confidence: 99%

Genetic Predisposition to Colorectal Cancer

Durno

Gallinger²

2006

J. pediatr. gastroenterol. nutr.

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Colorectal cancer is rare in childhood. The 2 best characterized familial syndromes, hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) and familial adenomatous polyposis (FAP), are autosomal dominant inherited disorders. HNPCC is relevant to pediatric gastroenterology practice because children and adolescents with underlying colorectal cancer can have germ-line mutations of mismatch repair genes. Recent attention has focused on characterizing genetic predisposition to attenuated FAP in individuals who do not have germ-line mutations in the APC gene. The identification of a second mechanistic explanation called MYH-associated polyposis (MAP), which is an autosomal-recessive condition, has important implications for both screening and management strategies. Hereditary colorectal cancer including HNPCC, FAP, attenuated FAP and MYH-associated polyposis in children are the subject of this review.

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“…The first report of prenatal testing for FAP was published in 1998 (47). In a high proportion of cases, prenatal diagnosis of FAP can be performed using linkage or mutational analysis.…”

Section: Prenatal Diagnosis In Fapmentioning

confidence: 99%

Genetic Predisposition to Colorectal Cancer

Durno

Gallinger²

2006

J. pediatr. gastroenterol. nutr.

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Attitudes toward childbearing and prenatal testing in individuals undergoing genetic testing for Lynch Syndrome

et al. 2011

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To examine attitudes toward childbearing and prenatal genetic testing among individuals at risk for Lynch Syndrome (LS), the most common type of hereditary colorectal cancer. Individuals undergoing clinical genetic testing for mismatch repair (MMR) gene mutations completed written questionnaires before and after testing. 161 of 192 (84%) eligible individuals participated in the study. Mean age was 46 years (range 20–75), 71% were female, 53% had a personal diagnosis of cancer, and 68% had children. Eighty percent worried about their children’s risk for developing cancer; however only 9% reported their decision to have children was affected by their family history of cancer. When asked whether providing prenatal testing to carriers of MMR gene mutations was ethical, 66% (86/130) of respondents agreed/strongly agreed, 25% (32) were neutral and 9% (12) disagreed/strongly disagreed. Of 48 individuals planning to have children in the future, 57% (27) intended to have children regardless of their genetic test result. If found to carry a MMR gene mutation that confirmed LS, 42% (20) would consider prenatal testing for a future pregnancy and 20% (7/35) of women would consider having children earlier in order to have prophylactic surgery to reduce their risk for gynecologic cancers. Individuals undergoing genetic testing for LS may utilize test results to make reproductive decisions. Clinicians should be prepared to discuss options of reproductive genetic technologies during counseling of LS patients of childbearing age.

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Ethical, legal and social implications of prenatal and preimplantation genetic testing for cancer susceptibility

Hui

2009

Reproductive BioMedicine Online

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Prenatal diagnosis to exclude FAP in a high risk pregnancy

Cited by 5 publications

References 1 publication

Genetic Predisposition to Colorectal Cancer

Genetic Predisposition to Colorectal Cancer

Attitudes toward childbearing and prenatal testing in individuals undergoing genetic testing for Lynch Syndrome

Ethical, legal and social implications of prenatal and preimplantation genetic testing for cancer susceptibility

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