The Association of Tumor Microsatellite Instability Phenotype with Family History of Colorectal Cancer

We report a case of rectal cancer with microsatellite instability (MSI) that probably resulted from Lynch syndrome and that was diagnosed after Cesarean section. The patient was a 28-year-old woman (gravid 1, para 1) without a significant medical history. At 35 gestational weeks, vaginal ultrasonography revealed a 5 cm tumor behind the uterine cervix, which was diagnosed as a uterine myoma. The tumor gradually increased in size and blocked the birth canal, resulting in the patient undergoing an emergency Cesarean section. Postoperatively, the tumor was diagnosed as rectal cancer with MSI. After concurrent chemoradiation therapy, a lower anterior resection was performed. The patient’s family history revealed she met the criteria of the revised Bethesda guidelines for testing the colorectal tumor for MSI. Testing revealed that the tumor did indeed show high MSI and, combined with the family history, suggested this could be a case of Lynch syndrome. Our findings emphasize the importance of considering the possibility of Lynch syndrome in pregnant women with colorectal cancer, particularly those with a family history of this condition. We suggest that the presence of Lynch syndrome should also be considered for any young woman with endometrial, ovarian, or colorectal cancer.

Download Full-text

Clinical, Pathological and Molecular Characteristics of Chilean Patients with Early-, Intermediate- and Late-Onset Colorectal Cancer

Cells ◽

10.3390/cells10030631 ◽

2021 ◽

Vol 10 (3) ◽

pp. 631

Author(s):

Karin Alvarez ◽

Alessandra Cassana ◽

Marjorie De La Fuente ◽

Tamara Canales ◽

Mario Abedrapo ◽

...

Keyword(s):

Colorectal Cancer ◽

Family History ◽

Age Of Onset ◽

Late Onset ◽

Molecular Characteristics ◽

Family History Of Cancer ◽

Molecular Features ◽

Age Of Diagnosis ◽

History Of ◽

History Of Cancer

Colorectal cancer (CRC) is the second most frequent neoplasm in Chile and its mortality rate is rising in all ages. However, studies characterizing CRC according to the age of onset are still lacking. This study aimed to identify clinical, pathological, and molecular features of CRC in Chilean patients according to the age of diagnosis: early- (≤50 years; EOCRC), intermediate- (51–69 years; IOCRC), and late-onset (≥70 years; LOCRC). The study included 426 CRC patients from Clinica Las Condes, between 2007 and 2019. A chi-square test was applied to explore associations between age of onset and clinicopathological characteristics. Body Mass Index (BMI) differences according to age of diagnosis was evaluated through t-test. Overall (OS) and cancer-specific survival (CSS) were estimated by the Kaplan–Meier method. We found significant differences between the age of onset, and gender, BMI, family history of cancer, TNM Classification of Malignant Tumors stage, OS, and CSS. EOCRC category was characterized by a family history of cancer, left-sided tumors with a more advanced stage of the disease but better survival at 10 years, and lower microsatellite instability (MSI), with predominant germline mutations. IOCRC has shown clinical similarities with the EOCRC and molecular similarities to the LOCRC, which agrees with other reports.

Download Full-text

IS A FAMILY HISTORY OF COLORECTAL CANCER AS RELEVANT FOR ULCERATIVE COLITIS PATIENTS AS FOR COTTON-TOP TAMARINS?

Inflammatory Bowel Diseases ◽

10.1097/00054725-199908000-00017 ◽

1999 ◽

Vol 5 (3) ◽

pp. 238

Author(s):

Anders Ekbom

Keyword(s):

Colorectal Cancer ◽

Ulcerative Colitis ◽

Family History ◽

History Of

Download Full-text

939 Association Between Family History of Colorectal Cancer and Incident Colorectal Cancer in the PLCO Trial

Gastroenterology ◽

10.1016/s0016-5085(14)60581-3 ◽

2014 ◽

Vol 146 (5) ◽

pp. S-162-S-163

Author(s):

Anthony Razzak ◽

Kelly Yu ◽

Paul Pinsky ◽

Tom Riley ◽

Robert E. Schoen

Keyword(s):

Colorectal Cancer ◽

Family History ◽

History Of

Download Full-text

Family History of Colorectal Cancer in BRAF p.V600E-Mutated Colorectal Cancer Cases

Cancer Epidemiology Biomarkers & Prevention ◽

10.1158/1055-9965.epi-12-1211 ◽

2013 ◽

Vol 22 (5) ◽

pp. 917-926 ◽

Cited By ~ 21

Author(s):

Daniel D. Buchanan ◽

Aung K. Win ◽

Michael D. Walsh ◽

Rhiannon J. Walters ◽

Mark Clendenning ◽

...

Keyword(s):

Colorectal Cancer ◽

Family History ◽

History Of

Download Full-text

Family history of colorectal adenomatous polyps as a risk factor for colorectal cancer

European Journal of Cancer ◽

10.1016/s0959-8049(00)00293-8 ◽

2000 ◽

Vol 36 (16) ◽

pp. 2111-2114 ◽

Cited By ~ 13

Author(s):

H Nakama ◽

B Zhang ◽

K Fukazawa ◽

A.S.M Abdul Fattah

Keyword(s):

Colorectal Cancer ◽

Risk Factor ◽

Family History ◽

Adenomatous Polyps ◽

History Of

Download Full-text

Study protocol of the RaPS study: novel risk adapted prevention strategies for people with a family history of colorectal cancer

BMC Cancer ◽

10.1186/s12885-018-4646-5 ◽

2018 ◽

Vol 18 (1) ◽

Cited By ~ 3

Author(s):

Kaja Tikk ◽

Korbinian Weigl ◽

Michael Hoffmeister ◽

Svitlana Igel ◽

Matthias Schwab ◽

...

Keyword(s):

Colorectal Cancer ◽

Family History ◽

Study Protocol ◽

Prevention Strategies ◽

History Of

Download Full-text

Screeners vs. Non-screeners for Colorectal Cancer among People over 50 Years of Age: Factual and Psychological Discriminants

Journal of Gastrointestinal and Liver Diseases ◽

10.15403/jgld-2263 ◽

2020 ◽

Author(s):

Andrada Ciucă ◽

Ramona Moldovan ◽

Sebastian Pintea ◽

Dan Dumitrașcu ◽

Adriana Băban

Keyword(s):

Colorectal Cancer ◽

Family History ◽

Positive Family History ◽

Psychosocial Interventions ◽

The Elderly ◽

Roc Curve Analysis ◽

Convenience Sample ◽

Colonoscopy Screening ◽

History Of ◽

D Values

Background and Aims: Colorectal cancer (CRC) is the third most frequent form of cancer worldwide, and approximately one third of cases have a positive family history of CRC or associated cancers. Colonoscopy is one of the most effective methods of screening for CRC. Uptake of colonoscopy is suboptimal, and many countries lack a national screening programme. Our study aims at exploring and ranking several factual and psychological variables according to their accuracy in discriminating between screeners and non-screeners for CRC in a convenience sample of people over 50 years of age. Methods: The study included 103 individuals aged over 50 years, recruited from day centres for the elderly. We explored socio-demographic variables, frequency of colonoscopy, previous recommendations for screening, health literacy and family history of cancer. Receiver operating characteristic (ROC) analysis was used to establish the discriminative value for each variable between the positive and negative decision for colonoscopy screening. Areas under the curve (AUC) and their equivalent Cohen‘s d values were calculated. Results: Almost a quarter (25.75%) of participants reported previous colonoscopy screening. ROC curve analysis shows that colonoscopy uptake is best discriminated by perceived benefits of screening (AUC=0.71, d=0.78, p<0.001), previous recommendations for screening (AUC=0.68, d=0.69, p<0.001) and previous recommendations for preventive measures (AUC=0.67, d=0.64, p<0.001). Conclusions: Recommendations from healthcare professionals lead to improved colonoscopy uptake when emphasising the benefits of screening. Results can further inform psychosocial interventions by bringing empirical evidence to emphasize screening benefits and explicit recommendations for individuals at risk for CRC cancer.

Download Full-text