Genetics of Colorectal Cancer (PDQ®)–Health Professional Version
Special considerations: Young-onset CRC
The epidemiology of CRC with regard to age at diagnosis is shifting with individuals increasingly being diagnosed before age 50 years.[528] (Refer to the PDQ summary on Colorectal Cancer Prevention for more information about CRC incidence trends in the general population.) One study that examined the prevalence of highly penetrant pathogenic variants in 450 individuals with young-onset CRC (mean age at diagnosis, 42.5 y) and a family history including at least one FDR with colon, endometrial, breast, ovarian, and/or pancreatic cancer identified 75 germline pathogenic or likely pathogenic variants in 72 patients (16%).[347] The spectrum of variants identified included Lynch syndrome and non-Lynch syndrome–associated genes, including several genes that have not traditionally been associated with CRC (e.g., BRCA1/BRCA2, ATM, CHEK2, PALB2, and CDKN2A). Given the high frequency and variety of hereditary cancer syndromes identified, the authors suggest that multigene (panel) testing in this population may be warranted.
In the absence of additional family or personal history suggestive of Lynch syndrome, isolated cases of CRC diagnosed before age 36 years are uncommonly associated with MMR gene pathogenic variants. One study found MMR pathogenic variants in only 6.5% of such individuals,[529] whereas another study of CRC patients younger than 50 years with no more than one FDR with CRC found abnormal MSI in 21% of tumors and overrepresentation of defects in the PMS2 and MSH6 genes.[530] Therefore, isolated cases of very early-onset CRC should be offered tumor screening with MSI/IHC rather than proceeding directly to germline pathogenic variant analysis.
Advances in Endoscopic Imaging in Hereditary CRC
Performance of endoscopic therapies for adenomas in FAP and Lynch syndrome, and decision-making regarding surgical referral and planning, require accurate estimates of the presence of adenomas. In both AFAP and Lynch syndrome the presence of very subtle adenomas poses special challenges—microadenomas in the case of AFAP and flat, though sometimes large, adenomas in Lynch syndrome.
Chromoendoscopy
The need for sensitive means to endoscopically detect subtle polyps has increased with the recognition of flat adenomas and sessile serrated polyps in otherwise average-risk subjects, very attenuated adenoma phenotypes in AFAP, and subtle flat adenomas in Lynch syndrome. Modern high-resolution endoscopes improve adenoma detection yield, but the use of various vital dyes, especially indigo carmine dye-spray, has further improved detection. Several studies have shown that the improved mucosal contrast achieved with the use of indigo carmine can improve the adenoma detection rate. Whether family history is significant or not, careful clinical evaluation consisting of dye-spray colonoscopy (indigo carmine or methylene blue),[471,531-536] with or without magnification, or possibly newer imaging techniques such as narrow-band imaging,[537] may reveal the characteristic right-sided clustering of more numerous microadenomas. Upper GI endoscopy may be informative if duodenal adenomas or fundic gland polyps with surface dysplasia are found. Such findings will increase the likelihood of variant detection if APC or MUTYH testing is pursued.
In various large series of average-risk populations, subtle flat lesions were detected in about 5% to 10% of cases, including adenomas with high-grade dysplasia and invasive adenocarcinoma.[538] Some of these studies involved tandem procedures—white-light exam followed by randomization to “intensive” (> 20-minute pull-back from cecum) inspection versus chromoendoscopy—with significantly more adenomas detected in the chromoendoscopy group.[539] However, in several randomized trials, no significant difference in yield was seen.[540,541]
In a randomized trial of subjects with Lynch syndrome,[542] standard colonoscopy, with polypectomy as indicated, was followed by either indigo carmine chromoendoscopy or repeat “intensive” white-light colonoscopy (a design very nearly identical to the average-risk screening group noted above). In this series, no significant difference in adenoma yield between the chromoendoscopy and intensive white-light groups was detected. However, these patients were younger and in many cases had undergone several previous exams that might have resulted in polyp clearing.
In a German study,[543] one series of Lynch syndrome patients underwent white-light exam followed by chromoendoscopy, while a second series underwent colonoscopy with narrow-band imaging followed by chromoendoscopy. Significant differences in flat polyp detection favored chromoendoscopy in both series, although some of the detected lesions were hyperplastic. In a French series of Lynch syndrome subjects that also employed white-light exam followed by chromoendoscopy, significantly more adenomas were detected with chromoendoscopy.[472]
Fewer evaluations of chromoendoscopy have been performed in AFAP than in Lynch syndrome. One study examined four patients with presumed AFAP and fewer than 20 adenomas upon white-light examination.[544] All had more than 1,000 diminutive adenomas found on chromoendoscopy, in agreement with pathology evaluation after colectomy.
A similar role for chromoendoscopy has been suggested to evaluate the duodenum in FAP. One study from Holland that used indigo carmine dye-spray to detect duodenal adenomas showed an increase in the number and size of adenomas, including some large ones. Overall Spigelman score was not significantly affected.[545]
Small bowel imaging
Patients with PJS and JPS are at greater risk of disease-related complications in the small bowel (e.g., bleeding, obstruction, intussusception, or cancer). FAP patients, although at great risk of duodenal neoplasia, have a relatively low risk of jejunoileal involvement. The RR of small bowel malignancy is very high in Lynch syndrome, but absolute risk is less than 10%. Although the risks of small bowel neoplasia are high enough to warrant consideration of surveillance in each disease, the technical challenges of doing so have been daunting. Because of the technical challenges and relatively low prevalences, there is virtually no evidence base for small-bowel screening in Lynch syndrome.
Historically, the relative endoscopic inaccessibility of the mid and distal small bowel required radiographic measures for its evaluation, including the barium small bowel series or a variant called tube enteroclysis, in which a nasogastroduodenal tube is placed so that all of the contrast goes into the small intestine for more precise imaging. None of these measures were sensitive for small lesions. Any therapeutic undertaking required laparotomy. This entailed resection in most cases, although intraoperative endoscopy, with or without enterotomy for scope access, has been available for many years. Peroral enteroscopy (aided by stiffening overtubes with two balloons, one balloon, or spiral ribs) has been employed to overcome the technical problem of excessive looping, enabling deep jejunal access with therapeutic (polypectomy) potential.
Most data relate that PJS with double-balloon enteroscopy is the preferred method for endoscopy of the small bowel.[546] This may involve only peroral enteroscopy, although subsequent retrograde enteroscopy has been described for more complete evaluation of the total small bowel. Because these procedures are time-consuming and involve some risk of complication, deep enteroscopy is usually preceded by more noninvasive imaging, including traditional barium exams, capsule endoscopy, and CT or magnetic resonance enterography.[75]
In FAP, data from capsule endoscopy [75] show a 50% to 100% prevalence of jejunal and/or ileal polyps in patients with Spigelman stage III or stage IV duodenal involvement but virtually no such polyps in Spigelman stage I or stage II disease. All polyps were smaller than 10 mm and were not biopsied or removed. Consequently, their clinical significance remains uncertain but is likely limited, given the infrequency of jejunoileal cancer reports in FAP.
Capsule endoscopy in the small series of PJS patients described above [75] showed the presence of a similar frequency (50%–100%) of polyps, but the prevalent polyps were much larger than in FAP, were more likely to become symptomatic, and warranted endoscopic or surgical excision. Capsule studies were suggested as an appropriate replacement for radiographic studies because of the sensitivity of capsule endoscopy.
Familial CRC
Genetic studies have demonstrated a common autosomal dominant inheritance pattern for colon tumors, adenomas, and cancers in familial CRC families,[547] with a gene frequency of 0.19 for adenomas and colorectal adenocarcinomas.[548] A subset of families with MSI-negative familial colorectal neoplasia was found to link to chromosome 9q22.2-31.2.[549] A more recent study has linked three potential loci in familial CRC families on chromosomes 11, 14, and 22.[550] For more than a decade, little progress has been made on these putative familial cancer loci.
Familial colorectal cancer type X (FCCX)
Families meeting Amsterdam-I criteria for Lynch syndrome who do not show evidence of defective MMR by MSI testing do not appear to have the same risk of colorectal or other cancers as those families with classic Lynch syndrome and clear evidence of defective MMR. These Amsterdam-I criteria families with intact MMR systems have been described as FCCX,[263,551-555] and it has been suggested that these families be classified as a distinct group.
The genetic etiology of FCCX remains unclear. Utilizing whole-genome linkage analysis and exome sequencing, a truncating variant in ribosomal protein S20 (RPS20), a ribosomal protein gene, was identified in four individuals with CRC from an FCCX family.[555] The variant cosegregated with CRC in the family, with a logarithm of the odds score of 3. Additionally, the variant was not identified in 292 controls. No LOH was observed in tumor samples, and in vitro analyses of mature RNA formation confirmed a model of haploinsufficiency for RPS20. No germline variants in RPS20 were found in 25 additional FCCX families studied, suggesting RPS20 variants are an infrequent cause of FCCX. The same group had previously identified variants in the bone morphogenetic protein receptor type 1A (BMPR1A) gene in affected individuals from 2 of 18 families with FCCX.[556] Additional studies are necessary to definitively confirm or refute a role for RPS20 or BMPR1A in FCCX.
Subsequent to these initial studies, several other putative FCCX genes have been found in familial, non-Lynch syndrome clusters of CRC including the polypeptide N-acetylgalactosaminyltransferase 12 (GALNT12) gene,[557] BUB1 and BUB3,[558] the SEMA4A gene,[559] RINT1,[560] FAN1,[561] and combined effects of pathogenic variants in HNRNPA0 and WIF1 in one large kindred.[562] The list of possible candidate genes will continue to grow, complicating any facile approach to handling these families.
Age of CRC onset in Lynch syndrome ranges from 44 years (registry series) to a mean of 52 years (population-based series).[267,314,365] There are no corresponding population-based data for FCCX because FCCX by definition requires at least one early-onset case, is almost certainly very heterogeneous, and is not likely to lend itself to any population-based figures in the foreseeable future. Studies that have directly compared age of onset between FCCX and Lynch syndrome have suggested that the age of onset is slightly older in FCCX,[263,551,553] and the lifetime risk of CRC is substantially lower. The SIR for CRC among families with intact MMR (FCCX families) was 2.3 (95% CI, 1.7–3.0) in one large study, compared with 6.1 (95% CI, 5.7–7.2) in families with defective MMR (Lynch syndrome families).[263] The risk of extracolonic tumors was also not found to be elevated in the FCCX families, suggesting that enhanced surveillance for CRC would be sufficient. Although further studies are required, tumors arising within FCCX families also appear to have a different pathologic phenotype, with fewer tumor-infiltrating lymphocytes than those in families with Lynch syndrome.[552]
Rare Colon Cancer Syndromes
PTEN hamartoma tumor syndromes (including Cowden syndrome)
Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome (BRRS) are part of a spectrum of conditions known collectively as PTEN hamartoma tumor syndromes. Approximately 85% of patients diagnosed with Cowden syndrome, and approximately 60% of patients with BRRS have an identifiable PTEN pathogenic variant.[563] In addition, PTEN pathogenic variants have been identified in patients with very diverse clinical phenotypes.[564] The term PTEN hamartoma tumor syndromes refers to any patient with a PTEN pathogenic variant, irrespective of clinical presentation.
PTEN functions as a dual-specificity phosphatase that removes phosphate groups from tyrosine, serine, and threonine. Pathogenic variants of PTEN are diverse, including nonsense, missense, frameshift, and splice-site variants. Approximately 40% of variants are found in exon 5, which encodes the phosphatase core motif, and several recurrent pathogenic variants have been observed.[565] Individuals with variants in the 5’ end or within the phosphatase core of PTEN tend to have more organ systems involved.[566]
Operational criteria for the diagnosis of Cowden syndrome have been published and subsequently updated.[567,568] These included major, minor, and pathognomonic criteria consisting of certain mucocutaneous manifestations and adult-onset dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease). An updated set of criteria based on a systematic literature review has been suggested [569] and is currently utilized in the National Comprehensive Cancer Network (NCCN) guidelines.[459] Contrary to previous criteria, the authors concluded that there was insufficient evidence for any features to be classified as pathognomonic. With increased utilization of genetic testing, especially the use of multigene panels, clinical criteria for Cowden syndrome will need to be reconciled with the phenotype of individuals with documented germline PTEN pathogenic variants who do not meet these criteria. Until then, whether Cowden syndrome and the other PTEN hamartoma tumor syndromes will be defined clinically or based on the results of genetic testing remains ambiguous. The American College of Medical Genetics and Genomics (ACMG) suggests that referral for genetics consultation be considered for individuals with a personal history of or a first-degree relative with 1) adult-onset Lhermitte-Duclos disease or 2) any three of the major or minor criteria that have been established for the diagnosis of Cowden syndrome.[570] Detailed recommendations, including diagnostic criteria for Cowden syndrome, can be found in the NCCN and ACMG guidelines.[459,570] Additionally, a predictive model that uses clinical criteria to estimate the probability of a PTEN pathogenic variant is available; a cost-effectiveness analysis suggests that germline PTEN testing is cost effective if the probability of a variant is greater than 10%.[571]
Over a 10-year period, the International Cowden Consortium (ICC) prospectively recruited a consecutive series of adult and pediatric patients meeting relaxed ICC criteria for PTEN testing in the United States, Europe, and Asia.[572] Most individuals did not meet the clinical criteria for a diagnosis of Cowden syndrome or BRRS. Of the 3,399 individuals recruited and tested, 295 probands (8.8%) and an additional 73 family members were found to harbor germline PTEN pathogenic variants. In addition to breast, thyroid, and endometrial cancers, the authors concluded that on the basis of cancer risk, melanoma, kidney cancer, and colorectal cancers should be considered part of the cancer spectra arising from germline PTEN pathogenic variants. A second study of approximately 100 patients with a germline PTEN pathogenic variant confirmed these findings and suggested a cumulative cancer risk of 85% by age 70 years.[573]
The age-adjusted risk of CRC was increased in carriers of pathogenic variants in both studies (SIR, 5.7–10.3).[572,573] In addition, one study found that 93% of individuals with PTEN pathogenic variants who had undergone at least one colonoscopy had polyps.[572] The most common histology was hyperplastic, although adenomas and sessile serrated polyps were also observed. The increased risk of CRC among carriers of PTEN pathogenic variants has led to the recommendation of surveillance colonoscopy in these patients.[573,574] However, both the age at which to begin (30–40 y) and the subsequent frequency of colonoscopies (biennial to every 3–5 y) vary considerably and are based on expert opinion.
Peutz-Jeghers syndrome (PJS)
PJS is an early-onset autosomal dominant disorder characterized by melanocytic macules on the lips, the perioral region, and buccal region; and multiple gastrointestinal polyps, both hamartomatous and adenomatous.[575-577] Germline pathogenic variants in the STK11 gene at chromosome 19p13.3 have been identified in the vast majority of PJS families.[578-582] The most common cancers in PJS are gastrointestinal. However, other organs are at increased risk of developing malignancies. For example, the cumulative risks have been estimated to be 32% to 54% for breast cancer [8,583,584] and 21% for ovarian cancer (mainly ovarian sex-cord tumors).[583] The risk for pancreatic cancer has been estimated to be more than 100-fold higher than that in the general population.[583] A systematic review found a lifetime cumulative cancer risk, all sites combined, of up to 93% in patients with PJS.[583,585] Table 15 shows the cumulative risk of these tumors.
Females with PJS are also predisposed to the development of cervical adenoma malignum, a rare and very aggressive adenocarcinoma of the cervix.[586] In addition, females with PJS commonly develop benign ovarian sex-cord tumors with annular tubules, whereas males with PJS are predisposed to development of Sertoli-cell testicular tumors;[587] although neither of these two tumor types is malignant, they can cause symptoms related to increased estrogen production.
Although the risk of malignancy appears to be exceedingly high in individuals with PJS based on the published literature, the possibility that selection and referral biases have resulted in overestimates of these risks should be considered.
Peutz-Jeghers gene(s)
PJS is caused by pathogenic variants in the STK11 (also called LKB1) tumor suppressor gene located on chromosome 19p13.[579,580] Unlike the adenomas seen in familial adenomatous polyposis, the polyps arising in PJS are hamartomas. Studies of the hamartomatous polyps and cancers of PJS show allelic imbalance (LOH) consistent with the two-hit hypothesis, demonstrating that STK11 is a tumor suppressor gene.[590,591] However, heterozygous STK11 knockout mice develop hamartomas without inactivation of the remaining wild-type allele, suggesting that haploinsufficiency may be sufficient for initial tumor development in PJS.[592] Subsequently, the cancers that develop in STK11 +/- mice do show LOH;[593] indeed, compound mutant mice heterozygous for pathogenic variants in STK11 +/- and homozygous for pathogenic variants in TP53 -/- have accelerated development of both hamartomas and cancers.[594]
Germline variants of the STK11 gene represent a spectrum of nonsense, frameshift, and missense variants, and splice-site variants and large deletions.[8,578]
Approximately 85% of variants are localized to regions of the kinase domain of the expressed protein. No strong genotype-phenotype correlations have been identified.[8] Up to 30% of variants are large deletions involving one or more exons of STK11, underscoring the importance of deletion analysis in suspected cases of PJS.[578]
STK11 has been unequivocally demonstrated to cause PJS. Although earlier estimates using direct DNA sequencing showed a 50% pathogenic variant detection rate in STK11, studies adding techniques to detect large deletions have found pathogenic variants in up to 94% of individuals meeting clinical criteria for PJS.[578,585,595] Given the results of these studies, it is unlikely that other major genes cause PJS.
Clinical management
The high cumulative risk of cancers in PJS has led to the various screening recommendations summarized in the table of Published Recommendations for Diagnosis and Surveillance of Peutz-Jeghers Syndrome (PJS) in the PDQ summary on Genetics of Colorectal Cancer.
Juvenile polyposis syndrome (JPS)
JPS is a genetically heterogeneous, rare, childhood- to early adult-onset, autosomal dominant disease that presents characteristically as hamartomatous polyposis throughout the GI tract, although colorectal polyps predominate.[596] JPS can present with diarrhea, GI tract hemorrhage, protein-losing enteropathy, and prolapsing polyps.[596-598] JPS is defined by the presence of a specific type of hamartomatous polyp called a juvenile polyp, often in the setting of a family history of JPS. The diagnosis of a juvenile polyp is based on its histologic appearance, rather than age at onset. Solitary juvenile polyps of the colon or rectum are seen sporadically in infants and young children and do not imply a diagnosis of JPS. A clinical diagnosis of JPS is met by individuals fulfilling one or more of the following criteria:[599]
- More than five juvenile polyps of the colon or rectum.
- Juvenile polyps in other parts of the GI tract.
- Any number of juvenile polyps and a positive family history of JPS.
JPS is caused by germline pathogenic variants in the SMAD4 gene, also known as MADH4/DPC4, at chromosome 18q21 [600] in approximately 15% to 60% of cases,[596] and by pathogenic variants in the gene encoding the bone morphogenic protein receptor 1A (BMPR1A) residing on chromosome band 10q22 in approximately 25% to 40% of cases.[601,602] Because pathogenic variants in SMAD4 and BMPR1A are known to account for juvenile polyposis, clinicians have referred young patients with fewer than five polyps for genetic testing. A study conducted on 77 patients with a total of 84 polyps found that the yield of genetic testing in patients with a limited number of polyps is minimal; of the germline variants detected, none were classified as definitely pathogenic or likely pathogenic.[603]
Genotype/phenotype correlations suggest SMAD4 variants may be associated with a greater risk of severe gastric polyposis [604] and features of hereditary hemorrhagic telangiectasia (HHT) (refer to the features of HHT below).[596] The lifetime risk of CRC in JPS has been reported to be 39%.[605] There appears to be an increased risk of gastric cancer, albeit much lower than the risk of CRC.[596] Cardiac valvular abnormalities were present in 12% of individuals with JPS who were followed through a single-institution–based polyposis registry,[596] and all those with identifiable pathogenic variants had SMAD4 variants.
JPS patients with SMAD4 pathogenic variants may also have signs and symptoms of HHT, such as arteriovenous malformations, mucocutaneous telangiectasias, digital clubbing, osteoarthropathy, hepatic arteriovenous malformations, and cerebellar cavernous hemangioma, suggesting that the two syndromes overlap.[606] When a patient is found clinically to have features of both JPS and HHT, the pathogenic variant will be in the SMAD4 gene. Most patients with isolated HHT will have a pathogenic variant in the activin receptor-like kinase 1 (ALK1) gene or in the endoglin (ENG) gene, but SMAD4 pathogenic variants have also been reported, although they are quite rare (approximately 1%–2% of patients with HHT).[607] One series suggested a slightly higher incidence of SMAD4 pathogenic variants in unselected patients with HHT. In this study, 3 of 30 patients (10%) with HHT without a clinical diagnosis of JPS were found to have germline variants in SMAD4.[608] Conversely, features of HHT were noted in 21% to 22% of carriers of SMAD4 pathogenic variants in two studies of individuals with a clinical diagnosis of JPS.[596,609] In a study of 21 carriers of SMAD4 pathogenic variants from nine JPS families, 81% (17 of 21) of patients had HHT manifestations.[610] The high prevalence in this study may have been a result of the inclusion of several relatives from a single family and the inclusion of several families with the same pathogenic variant.[610]
Surveillance for HHT has been suggested in JPS patients with germline SMAD4 pathogenic variants.[596,610] On the other hand, patients with HHT without germline variants in ALK1 or ENG may be considered for SMAD4 germline genetic testing; the GI tract should be evaluated if a SMAD4 germline pathogenic variant is confirmed.[611] (Refer to Table 17, Published Recommendations for Diagnosis and Surveillance of JPS, for more information.)
A severe form of JPS, in which polyposis develops in the first few years of life, is referred to as JPS of infancy. JPS of infancy is often caused by microdeletions of chromosome 10q22-23, a region that includes BMPR1A and PTEN. (Refer to the PTEN hamartoma tumor syndromes [including Cowden syndrome] section of this summary for more information about PTEN.) The phenotype often includes features such as macrocephaly and developmental delay, possibly as a result of loss of PTEN function.[612] Recurrent GI bleeding, diarrhea, exudative enteropathy, in addition to associated developmental delay, are associated with a very high rate of morbidity and mortality in these infants, thereby limiting the heritability of such cases.[612]
Juvenile polyposis gene(s)
JPS is caused by germline pathogenic variants in the SMAD4 gene in approximately 15% to 60% of cases, and to pathogenic variants in BMPR1A in approximately 25% to 40% of cases.[596,601,602] The large variability in variant frequency likely reflects the relatively small number of patients reported in individual studies. A subset of individuals meeting clinical criteria for JPS will not have an identified pathogenic variant in either SMAD4 or BMPR1A.
SMAD4 encodes a protein that is a component of the transforming growth factor (TGF)-beta signaling pathway, which mediates growth inhibitory signals from the cell surface to the nucleus. Germline pathogenic variants in SMAD4 predispose individuals to forming juvenile polyps and cancer,[600] and germline variants have been found in 6 of 11 exons. Most variants are unique, but several recurrent pathogenic variants have been identified in multiple independent families.[609,613] Patients with SMAD4 pathogenic variants are also at high risk for developing extracolonic GI cancers such as gastric cancers, often in the context of gastric polyposis.[609]
BMPR1A is a serine-threonine kinase type I receptor of the TGF-beta superfamily that, when activated, leads to phosphorylation of SMAD4. The BMPR1A gene was first identified by linkage analysis in families with JPS who did not have identifiable pathogenic variants in SMAD4. Variants in BMPR1A include nonsense, frameshift, missense, and splice-site variants.[601] Large genomic deletions detected by MLPA have been reported in both BMPR1A and SMAD4 in patients with JPS.[609,613] Rare JPS families have demonstrated variants in the ENG and PTEN genes, but these have not been confirmed in other studies.[614,615]
CHEK2
Several studies initially suggested that a subset of families with hereditary breast and colon cancers may have a cancer family syndrome caused by a pathogenic variant in the CHEK2 gene.[616-618] However, subsequent studies have suggested that CHEK2 variants are associated with only a modest increase in CRC risk (i.e., low penetrance). One large study showed that truncating variants in CHEK2 were not significantly associated with CRC; however, a specific missense pathogenic variant (I157T) was associated with modest increased risk (OR, 1.5; 95% CI, 1.2–3.0) of CRC.[619]
Similar results were obtained in another study conducted in Poland.[620] In this study, 463 probands from Lynch syndrome and Lynch syndrome–related families and 5,496 controls were genotyped for four CHEK2 pathogenic variants, including I157T. The missense I157T allele was associated with Lynch syndrome–related cancer only for MMR variant-negative cases (OR, 2.1; 95% CI, 1.4–3.1). There was no association found with the truncating variants. Further studies are needed to confirm this finding and to determine whether they are related to FCCX.
(Refer to the CHEK2 section in the PDQ summary on Genetics of Breast and Gynecologic Cancers for more information.)
Hereditary mixed polyposis syndrome (HMPS)
HMPS is a rare cancer family syndrome characterized by the development of a variety of colon polyp types, including serrated adenomas, atypical juvenile polyps and adenomas, and colon adenocarcinoma. Although initially mapped to a locus between 6q16-q21, the HMPS locus is now believed to map to 15q13-q14.[621,622] While there is considerable phenotypic overlap between JPS and HMPS, one large family has been linked to a locus on chromosome 15, raising the possibility that this may be a distinct disorder. Linkage analysis of Ashkenazi Jewish families with HMPS revealed shared haplotypes on chromosome 15q13.3.[623] An unusual heterozygous 40kb single-copy duplication was discovered upstream of gremlin 1 (GREM1) that segregated perfectly with individuals and family members with HMPS and not with unaffected controls.[623] The presence of this duplication in HMPS individuals was associated with increased expression of GREM1 transcript levels in the normal intestinal epithelium.[623] GREM1 is a bone morphogenetic protein (BMP) antagonist and thus theoretically would promote the stem cell phenotype in the intestine. Germline variants leading to defective BMP signaling also underlie JPS, thus drawing a potential link between HMPS and JPS.
Although exceedingly rare, GREM1 pathogenic variants have been described in several additional families of Ashkenazi Jewish ancestry, with varying clinical presentations. Although polyposis appears to be a unifying feature in most families, there is a high degree of variability with respect to polyp number, histology, and age of onset. In addition, extracolonic malignancies have been described in several pathogenic variant carriers, although the small number of affected individuals limits the ability to definitively demonstrate a causal link to the GREM1 pathogenic variant. On the basis of relatively limited data, it is reasonable to consider GREM1-variant analysis in Ashkenazi Jewish families presenting with unexplained polyposis and/or familial CRC.[624] In such families, comprehensive variant analysis that includes testing for duplications in noncoding regions of GREM1 is necessary.
Serrated polyposis syndrome (SPS)/Hyperplastic polyposis syndrome (HPS)
Isolated and multiple hyperplastic polyps (HPs) (typically white, flat, and small) are common in the general population, and their presence does not suggest an underlying genetic disorder. Historically, the clinical diagnosis of SPS, as defined by WHO, must satisfy one of the following criteria:
- At least five histologically diagnosed HP occurring proximal to the sigmoid colon (of which at least two are >10 mm in diameter).
- One HP occurring proximal to the sigmoid colon in an individual who has at least one FDR with hyperplastic polyposis.
- More than 30 HPs distributed throughout the colon.[625]
[Note: Other groups have included serrated adenomas as part of the revised clinical criteria for SPS.626]
Although the vast majority of cases of SPS lack a family history of HPs, approximately half of the SPS cases have a positive family history of CRC.[627,628] Several studies show that the prevalence of colorectal adenocarcinoma in patients with formally defined criteria for SPS is 50% or more.[629-636] One study, using a variation of the WHO criteria for SPS (SPS was defined as at least five histologically diagnosed HPs and/or sessile serrated adenomas (SSAs) proximal to the sigmoid colon, of which two are greater than 10 mm in diameter, or more than 20 HPs and/or SSAs distributed throughout the colon), found an RR for CRC in 347 FDRs (41% male) from 57 pedigrees of 5.4 (95% CI, 3.7–7.8).[626]
The WHO criteria are based on expert opinion; and, there is no known susceptibility gene or genomic region that has been reproducibly linked to this disorder, so genetic diagnosis is not possible. Two studies have reported potentially causative germline variants in SPS individuals.[627,637]
In a study of 38 patients with more than 20 HPs, a large (>1 cm) HP, or HPs in the proximal colon, molecular alterations were sought in the base-excision repair genes MBD4 and MUTYH.[627] One patient was found to have biallelic MUTYH pathogenic variants, and thus was diagnosed with MUTYH-associated polyposis. No pathogenic variants were detected in MBD4 among 27 patients tested. However, six patients had single nucleotide polymorphisms of uncertain significance. Only two patients had a known family history of SPS, and ten of the 38 patients developed CRC. This series presumably included patients with sporadic HPs mixed in with other patients who may have SPS.
In a cohort of 40 SPS patients, defined as having more than five HPs or more than three HPs, two of which were larger than 1 cm in diameter, one patient was found to have a germline variant in the EPHB2 gene (D861N).[637] The patient had serrated adenomas and more than 100 HPs in her colon at age 58 years, and her mother died of colon cancer at age 36 years. EPHB2 germline variants were not found in 100 additional patients with a personal history of CRC or in 200 population-matched healthy control patients.
Far more is known about the somatic molecular genetic alterations found in the colonic tumors occurring in SPS patients. In a study of patients with either more than 20 HPs per colon, more than four HPs larger than 1 cm in diameter, or multiple (5–10) HPs per colon, a specific somatic BRAF mutation (V600E) was found in polyp tissue.[638] Fifty percent of HPs (20 of 40) from these patients demonstrated the V600E BRAF pathogenic variant. The HPs from these patients also demonstrated significantly higher CpG island methylation phenotypes (CIMP-high), and fewer KRAS variants than left-sided sporadic HPs. In a previous study from this group, HPs from patients with SPS showed a loss of chromosome 1p in 21% (16 of 76) versus 0% in HPs from patients with large HPs (>1 cm), or only five to ten HPs.[630]
Many of the genetic and histological alterations found in HPs of patients with SPS are common with the CIMP pathway of colorectal adenocarcinoma. Sporadic serrated polyps are the precursors to CRCs of the CIMP pathway. (Refer to the CIMP and the serrated polyposis pathway section in the Introduction section of this summary for more information.)
Interventions for rare colon cancer syndromes
Individuals with PJS and JPS are at increased risk of CRC and extracolonic cancers. Because these syndromes are rare, there have been no evidence-based surveillance recommendations. Because of the markedly increased risk of colorectal and other cancers in these syndromes, a number of guidelines have been published based on retrospective and case series (i.e., based exclusively on expert opinion).[639-643] Clinical judgment must be used in making screening recommendations based on published guidelines.
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