Little is known about the impact of cancer genetic counseling and testing on health behaviors in racial and ethnic subgroups. This prospective observational study examined use of risk reduction strategies following BRCA1 counseling and testing. Participants were female members of an African American kindred who received genetic education, counseling and testing (n = 40) and completed a 1-year follow-up interview. Mutation carriers were more likely to opt for breast (100%, 7/7) and ovarian (25%; 1 of 4) cancer surveillance than prophylactic surgery. Following genetic counseling, 71% (5/7) of the BRCA1 carriers who opted for surveillance reported having a mammogram within the year following receipt of their genetic test results. Ovarian cancer screening among mutation carriers increased from 0% at baseline to 25% (one of four) at 1 year. Compared to noncarriers (23%, 7/30), carriers (70%, 7/10) were more likely to discuss their BRCA1 test results with their primary health care providers. Surveillance for breast cancer was preferred to prophylactic surgery and chemoprevention as a way to reduce risk for these cancers. Our data indicate that patient-provider communication about BRCA1 test results is suboptimal.
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http://dx.doi.org/10.1007/s10897-006-9026-7 | DOI Listing |
Medicine (Baltimore)
January 2025
Reproductive Medicine Center, Yulin Maternal and Child Health Care Hospital, Yulin, Guangxi, China.
Rationale: This study investigates the genetic cause of primary infertility and short stature in a woman, focusing on maternal X chromosome pericentric inversion and its impact on offspring genetic outcomes, including deletions at Xp22.33 and Xp22.33p11.
View Article and Find Full Text PDFQJM
January 2025
Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, 510010, China.
Background: ALG8-congenital disorder of glycosylation (ALG8-CDG) is a rare inherited metabolic disorder leading to severe multisystem manifestations, with no reported prenatal patients to date.
Methods: We describe two fetuses from a single family with ALG8-CDG presenting with prenatal hydrops, undergoing comprehensive prenatal ultrasound, umbilical cord blood biochemistry, autopsy, placental pathology, and genetic testing.
Results: Prenatal ultrasound revealed fetal hydrops, skeletal anomalies, cardiac developmental abnormalities, cataracts, echogenic kidneys and bowel, oligohydramnios, choroid plexus cysts, and intrauterine growth restriction.
Ann Thorac Surg Short Rep
December 2024
Department of Thoracic Surgery, International University of Health and Welfare Narita Hospital, Narita, Japan.
Advanced-stage atypical carcinoid tumors are seldom seen in the teenaged population. Comprehensive care, extending beyond mere cancer treatment, is essential. A 16-year-old boy received a diagnosis of a 13-mm nodule in the left S lung segment with signs suggesting interlobar pleural indentation.
View Article and Find Full Text PDFAnn Thorac Surg Short Rep
June 2024
Department of Cardiothoracic Surgery, St Francis Hospital, Roslyn, New York.
We present the case of a 72-year-old man diagnosed with an aortic root aneurysm who was then diagnosed with Marfan syndrome. The patient suffered an intraoperative type B dissection with lower extremity malperfusion managed with an axillary-bifemoral extra-anatomic bypass.
View Article and Find Full Text PDFNat Rev Dis Primers
January 2025
European Reference Network for Rare Multisystemic Vascular Disease (VASCERN), HHT Rare Disease Working Group, Paris, France.
Hereditary haemorrhagic telangiectasia (HHT) is a vascular dysplasia inherited as an autosomal dominant trait and caused by loss-of-function pathogenic variants in genes encoding proteins of the BMP signalling pathway. Up to 90% of disease-causal variants are observed in ENG and ACVRL1, with SMAD4 and GDF2 less frequently responsible for HHT. In adults, the most frequent HHT manifestations relate to iron deficiency and anaemia owing to recurrent epistaxis (nosebleeds) or bleeding from gastrointestinal telangiectases.
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