Use of family history and genetic testing to determine risk of colorectal cancer

F Kastrinos, NJ Samadder, RW Burt - Gastroenterology, 2020 - Elsevier
Approximately 35% of patients with colorectal cancer (CRC) have a family history of the
disease attributed to genetic factors, common exposures, or both. Some families with a …

[HTML][HTML] Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

M Dominguez-Valentin, JR Sampson, TT Seppälä… - Genetics in …, 2020 - nature.com
Purpose Pathogenic variants affecting MLH1, MSH2, MSH6, and PMS2 cause Lynch
syndrome and result in different but imprecisely known cancer risks. This study aimed to …

Population genetic screening efficiently identifies carriers of autosomal dominant diseases

JJ Grzymski, G Elhanan, JA Morales Rosado, E Smith… - Nature medicine, 2020 - nature.com
Three inherited autosomal dominant conditions—BRCA-related hereditary breast and
ovarian cancer (HBOC), Lynch syndrome (LS) and familial hypercholesterolemia (FH) …

Expanding the scope of immunotherapy in colorectal cancer: current clinical approaches and future directions

M Kreidieh, D Mukherji, S Temraz… - BioMed research …, 2020 - Wiley Online Library
The success of immune checkpoint inhibitors (ICIs) in an increasing range of heavily
mutated tumor types such as melanoma has culminated in their exploration in different …

Association of rare pathogenic DNA variants for familial hypercholesterolemia, hereditary breast and ovarian cancer syndrome, and lynch syndrome with disease risk …

AP Patel, M Wang, AC Fahed… - JAMA network …, 2020 - jamanetwork.com
Importance Pathogenic DNA variants associated with familial hypercholesterolemia,
hereditary breast and ovarian cancer syndrome, and Lynch syndrome are widely recognized …

Comprehensive analysis of indels in whole-genome microsatellite regions and microsatellite instability across 21 cancer types

A Fujimoto, M Fujita, T Hasegawa, JH Wong… - Genome …, 2020 - genome.cshlp.org
Microsatellites are repeats of 1-to 6-bp units, and approximately 10 million microsatellites
have been identified across the human genome. Microsatellites are vulnerable to DNA …

A new comprehensive colorectal cancer risk prediction model incorporating family history, personal characteristics, and environmental factors

Y Zheng, X Hua, AK Win, RJ MacInnis… - … Biomarkers & Prevention, 2020 - AACR
Purpose: Reducing colorectal cancer incidence and mortality through early detection would
improve efficacy if targeted. We developed a colorectal cancer risk prediction model …

BRCA and Beyond: Comprehensive Image-rich Review of Hereditary Breast and Gynecologic Cancer Syndromes

SH Chung, N Woldenberg, AR Roth, R Masamed… - Radiographics, 2020 - pubs.rsna.org
In addition to the well-characterized BRCA1 and BRCA2 hereditary breast and ovarian
cancer syndromes, many other syndromes that are associated with genetic mutations …

Risk of metachronous colorectal neoplasm after a segmental colectomy in Lynch syndrome patients according to mismatch repair gene status

FF Quezada-Diaz, I Hameed… - Journal of the …, 2020 - journals.lww.com
BACKGROUND: Because of increased risk of metachronous colorectal cancer (CRC), all
patients with Lynch syndrome (LS) are offered a total colectomy. However, because …

Genomic variation as a marker of response to neoadjuvant therapy in locally advanced rectal cancer

JK Douglas, RE Callahan, ZA Hothem… - Molecular & cellular …, 2020 - Taylor & Francis
There is variation in the responsiveness of locally advanced rectal cancer to neoadjuvant
chemoradiation, from complete response to total resistance. This study compared genetic …