see related Editorial on page 803: Family History of Colorectal Cancer in First-Degree Relatives and Metachronous Colorectal Adenoma

Background: The aim of this study was to explore the risk of invasive colorectal cancer (CRC) in relatives of patients with colorectal carcinoma in situ (CCIS), which is lacking in the literature. Patients and Methods: We collected data from Swedish family-cancer datasets and calculated standardized incidence ratio (SIR) and cumulative risk of CRC in family histories of CCIS in first- and second-degree relatives. Family history was defined as a dynamic (time-dependent) variable allowing for changes during the follow-up period from 1958 to 2015. Of 12,829,251 individuals with available genealogical data, 173,796 were diagnosed with CRC and 40,558 with CCIS. Results: The lifetime (0–79 years) cumulative risk of CRC in first-degree relatives of patients with CCIS was 6.5%, which represents a 1.6-fold (95% CI, 1.5–1.7; n=752) increased risk. A similarly increased lifetime cumulative risk (6.7%) was found among first-degree relatives of patients with CRC (SIR, 1.6; 95% CI, 1.6–1.7; n=6,965). An increased risk of CRC was also found in half-siblings of patients with CCIS (SIR, 1.9; 95% CI, 1.1–3.0; n=18) and also in half-siblings of patients with CRC (SIR, 1.7; 95% CI, 1.3–2.1; n=78). Moreover, the increased risk of CRC was higher for younger age at diagnosis of CCIS in the affected first-degree relative and for younger age at diagnosis of CRC in the index person. Conclusions: Results of this study show that first-degree relatives and half-siblings of patients with CCIS have an increased risk of CRC, which is comparable in magnitude to the risk of those with a family history of invasive CRC. These findings extend available evidence on familial risk of CRC and may help to refine guidelines and recommendations for CRC screening.

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Assessment of family history of colorectal cancer in primary care: Perceptions of first degree relatives of people with colorectal cancer

Patient Education and Counseling ◽

10.1016/j.pec.2013.11.014 ◽

2014 ◽

Vol 94 (3) ◽

pp. 427-431 ◽

Cited By ~ 6

Author(s):

Emilie Cameron ◽

Shiho Rose ◽

Mariko Carey

Keyword(s):

Colorectal Cancer ◽

Primary Care ◽

Family History ◽

First Degree Relatives ◽

History Of

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Tu1080 Family History of Colorectal Cancer in First-degree Relatives and Metachronous Adenoma in the Pooling Study

Gastroenterology ◽

10.1016/s0016-5085(16)32827-x ◽

2016 ◽

Vol 150 (4) ◽

pp. S836

Author(s):

Elizabeth T. Jacobs ◽

Samir Gupta ◽

John A. Baron ◽

Amanda Cross ◽

David Lieberman ◽

...

Keyword(s):

Colorectal Cancer ◽

Family History ◽

First Degree Relatives ◽

History Of

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Identification of Kininogen 1 as a Serum Protein Marker of Colorectal Adenoma in Patients with a Family History of Colorectal Cancer

Journal of Cancer ◽

10.7150/jca.22405 ◽

2018 ◽

Vol 9 (3) ◽

pp. 540-547 ◽

Cited By ~ 1

Author(s):

Jiekai Yu ◽

Yanqin Huang ◽

Chen Lin ◽

Xiaofen Li ◽

Xuefeng Fang ◽

...

Keyword(s):

Colorectal Cancer ◽

Family History ◽

Serum Protein ◽

Colorectal Adenoma ◽

Protein Marker ◽

History Of

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Endoscopic screening of relatives of patients with colorectal cancer

Gut ◽

10.1136/gut.42.1.71 ◽

1998 ◽

Vol 42 (1) ◽

pp. 71-75 ◽

Cited By ~ 19

Author(s):

L M Hunt ◽

P S Rooney ◽

J D Hardcastle ◽

N C Armitage

Keyword(s):

Colorectal Cancer ◽

Family History ◽

Lower Risk ◽

Flexible Sigmoidoscopy ◽

Familial Risk ◽

Endoscopic Screening ◽

First Degree Relatives ◽

The Family ◽

Satisfactory Method ◽

History Of

Background—The risk of colorectal cancer is higher among relatives of those affected. The neoplastic yield reported from screening such individuals varies enormously between studies and depends on the age and strength of the family history of those screened.Aims—To ascertain the neoplastic yield of endoscopic screening of first degree relatives of patients with colorectal cancer by age and familial risk.Subjects—A total of 330 individuals with a family history of colorectal cancer.Method—Endoscopic screening conducted according to a protocol.Results—Adenomas were found in 12%, and adenomas larger than 1 cm in 8%, of “high risk” individuals screened primarily by colonoscopy. Of those with neoplasia, 26% had lesions at or proximal to the splenic flexure. Neoplasia was found in 9.5% of individuals at lower familial risk, screened primarily by 60 cm flexible sigmoidoscopy, 4% of whom had neoplasia larger than 1 cm in size or cancer. Neoplastic yield was greatest in the fourth and fifth decades in those at highest risk, but increased with age in those at lower risk.Conclusions—For individuals with two or more first degree relatives, or relatives who have developed colorectal cancer at a young age, colonoscopy appears to be the only satisfactory method of screening, but 60 cm flexible sigmoidoscopy may be useful in those at lower levels of risk.

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861 Genetic Susceptibility and Family History of Colorectal Cancer. Relevance of Single Nucleotide Polymorphisms in the Development of Preneoplastic Lesions in First-Degree Relatives of Patients With Colorectal Cancer

Gastroenterology ◽

10.1016/s0016-5085(16)30704-1 ◽

2016 ◽

Vol 150 (4) ◽

pp. S185

Author(s):

Carla J. Gargallo ◽

Angel Lanas ◽

Patricia Carrera ◽

Angel Ferrandez ◽

Enrique Quintero ◽

...

Keyword(s):

Colorectal Cancer ◽

Family History ◽

Single Nucleotide Polymorphisms ◽

Genetic Susceptibility ◽

Nucleotide Polymorphisms ◽

Preneoplastic Lesions ◽

Single Nucleotide ◽

First Degree Relatives ◽

History Of

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Ability of known susceptibility SNPs to predict colorectal cancer risk for persons with and without a family history

10.1101/267666 ◽

2018 ◽

Author(s):

Mark A. Jenkins ◽

Aung K. Win ◽

James G. Dowty ◽

Robert J. MacInnis ◽

Enes Makalic ◽

...

Keyword(s):

Colorectal Cancer ◽

Family History ◽

Cancer Risk ◽

Colorectal Cancer Risk ◽

Clinical Genetics ◽

Nucleotide Polymorphisms ◽

Men And Women ◽

First Degree Relatives ◽

Risk Reclassification ◽

History Of

ABSTRACTBackgroundA number of single nucleotide polymorphisms (SNPs), which are common inherited genetic variants, have been identified that are associated with risk of colorectal cancer. The aim of this study was to determine the ability of these SNPs to estimate colorectal cancer (CRC) risk for persons with and without a family history of CRC, and the screening implications.MethodsWe estimated the association with CRC of a 45 SNP-based risk using 1,181 cases and 999 controls, and its correlation (r) with CRC risk predicted from detailed family history. We estimated the predicted change in the distribution across predefined risk categories, and implications for recommended age to commence screening, from adding SNP-based risk to family history.ResultsThe inter-quintile risk ratio for colorectal cancer risk of the SNP-based risk was 2.46 (95% CI 1.91 – 3.11). SNP-based and family history-based risks were not correlated (r = 0.02). For persons with no first-degree relatives with CRC, recommended screening would commence 2 years earlier for women (4 years for men) in the highest quintile of SNP-based risk, and 12 years later for women (7 years for men) in the lowest quintile. For persons with two first-degree relatives with CRC, recommended screening would commence 15 years earlier for men and women in the highest quintile, and 8 years earlier for men and women in the lowest quintile.ConclusionsRisk reclassification by 45 SNPs could inform targeted screening for CRC prevention, particularly in clinical genetics settings when mutations in high-risk genes cannot be identified.

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