The APC I1307K Allele And Breast Cancer Risk

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Germline Mutation Prevalence in Consecutive, Unselected

iv Moderate risk allele (p.I1307K) Gene Pathogenic Mutation/ Likely Pathogenic Variant Gender Age of PC diagnosis Other Cancers (Age of Diagnosis) Fulfills NCCN genetic testing guidelinesiii APC ivc.3920T>A F 83 None Yes APC c.3920T>Ab F 69 Breast (47) Yes ATM c.5932G>T M 59 None No ATM c.7630-2A>C F 67 Melanoma (27) Leukemia (61) No

Genetic susceptibility to non-polyposis colorectal cancer

with tumour cells;(8) there is an increased risk for malignancy at several extracolonic sites, particularly the endometrium, ovary, stomach, small bowel, hepatobiliary tract, pancreas, ure-ter,and renal pelvis.13 Breast cancer excess may be present in some HNPCC families.14 In Warthin s family G, gastric cancer was exceed-ingly common before

Heterozygosity for the BLMAsh Mutation and Cancer Risk

neoplasia, 0.87% of those with any type of cancer and 0.85% of controls. In addition to case-control data, we found no evidence to support a significant relationship between increased cancer risk and heterozygous BLMAsh mutations with respect to age of cancer diagnosis, tumor multi-plicity or family cancer history. Introduction

The I1307K Polymorphism of the APC Gene in Colorectal Cancer

the i1307k polymorphism of the apc gene in colorectal cancer thomas w. prior,* robert b. chadwick,‡ audrey c. papp,* anuradha n. arcot,* alexandra m. isa,* dennis k. pearl,§ grant stemmermann, antonio percesepe,¶ anu loukola,# lauri a. aaltonen,# and albert de la chapelle‡

chirurgia 6 oI c 4'2006 a

For rs10795668 we found an increased risk for rectum cancer vs. controls with an OR of 1.46(CI=0.66-3.21), and for rectum cancer vs. colon cancer (OR=2.19; CI=0.87-5.55). This is the first Romanian study that confirms previously-identified associations with colorectal cancer risk for five out of eight

Genome-Wide Association Studies of Cancer

the risk allele frequencies ranging from 0.1% to 0.5% (ie, 0.2 to one APC (I1307K) CHEK2 PALB2 FGFR2 8q24 locus GSTM1 MSMB CDH1 familial risk GWAS SNPs BRCA2 Breast Cancer Lynch syndrome

Prevalence of the I1307K APC Gene Variant in Israeli Jews of

was not increased in Ashkenazi women at risk for breast-ovarian cancer or those with ovarian cancer.8,9 Nor was it a risk factor for a Norwegian population with familial or sporadic colorectal or breast cancers.10 We did not address these groups in our study, and our findings are consistent with those of Laken et al.,1 because there is

Cancer Susceptibility Gene Mutations in Individuals With

Ashkenazi Jewish APC*I1307K founder allele.11,12 Finally, emerging data have sug-gested that some patients with CRC harbor mutations in breast and ovarian cancer susceptibility genes (eg, BRCA1/2), which raises the question about whether these

Detecting low penetrance genes in cancer: the way ahead

cancer risk by raising the global mutation rate (although the overall eVect may appear to be site specific) while others such as the I1307K variant of APC may increase the mutation rate in a cell autonomous fashion.17 Recently, it has been proposed that a signifi-cant part of the non-Mendelian contribution to

Multi-Gene Panel Testing of 23,179 Individuals for Hereditary

BRCA2, TP53, and PTEN),9 the Genetic/Familial High-Risk Assessment: Colorectal Version 2.2016 [MLH1, MSH2, MSH6, PMS2, EPCAM, APC (excluding APC p.I1307K), biallelic MUTYH, SMAD4, and BMPR1A],10 and the Gastric Cancer Version 1.2017 (CDH1).11 Phenotypic information, used to evaluate if an individual met or did not meet criteria,

Cancer-Associated Genodermatoses and Familial Cancer

cancers at a mean age of 8 years.1 The risk of skin cancer in these patients is exceedingly high (1,000 times that of the general population).2 In addition, ocular complica-tions include photophobia, keratitis, conjunctivitis, ec-tropion, and the development of malignancy of ocular tissues. Neurologic degeneration, including mental de-

Inherited Colorectal Polyposis and Cancer Risk of the APC

of the Ashkenazi Jewish population. To assess the risk of this common APC allelic variant in colorectal carci-nogenesis, we have analyzed a large cohort of unselected Ashkenazi Jewish subjects with adenomatous polyps and.or colorectal cancer, for the APC I1307K polymor-phism. The APC I1307K allele was identified in 48 (10.1%) of 476 patients.

CV Steven Laken -

A Community-Based Study of the APC I1307K Allele in Ashkenazi Jews: Association with Increased Risk of Cancers Including Colorectal and Breast Cancer. Nature Genetics 1998. 20:62-65.

The APC I1307K allele and cancer risk in a community-based

letter 62 nature genetics volume 20 september 1998 The APC I1307K allele and cancer risk in a community-based study of Ashkenazi Jews Trevor Woodage 1, Sonya M. King 1, Sholom Wacholder 2

Perceptions of Genetic Testing for Cancer Predisposition

ated with increased colorectal cancer risk may also occur with greater frequency in persons of Ashkenazi Jewish descent, such as the APC I1307K allele [8 12] Cancer-predisposing mutations that occur more fre-quently in certain ethnic groups permit targeting of ge-netic strategies that may be cost-effi cient and likely to

Genetic analysis of the APC gene regions involved in

A novel missense mutation within the APC gene, I1307K, has been described initially in Jewish individuals of East European descent (Ashkenazi), both at risk for colorectal cancer (CRC), and also in the general, average risk, population of the same ethnic extraction (Laken et al, 1997, Woodage et al, 1998). Studies


the association between apc i1307k allele and colorectal and non-colorectal cancer risk M. Moshkowitz 1,2 , A. Leshno 1 , E. Liberman 1 , S. Shapira , S. Kraus 1,2 , N. Arber 1,2 1 Integrated Cancer Prevention Center, Tel-Aviv Sourasky Medical Center, Israel

Mammary Tumorigenesis in Apc Min/+ Mice Is Enhanced by X

The polymorphism of I1307K in the human APC gene is weakly associated with an increased familial breast cancer risk (23, 24).

Inherited Susceptibility to Common Cancers

are important causes of cancer. 1 The range of cancers, the age at onset, and the number of generations affected all suggest familial risk. In this review, I discuss the five cancers in the United States that are associated with the highest number of deaths: lung, breast, colorectal, prostate, and pancreatic cancer.

Understanding Inherited Risk in Unselected Newly Diagnosed

Apr 25, 2019 breast cancer or exposure to tamoxifen. A 72-year-old woman who had clear cell EC lobular breast cancer when she was in her 40s and a family history of breast and prostate cancer had a deletion of SMARCA4 exon 17-18 identified with SMARCA4 IHC loss in her tumor. Ofthesesevenpatientswithhigh-penetrancemutations,six


Pathogenic variants in APC predispose to Familial Adenomatous Polyposis (FAP) and up to 100% risk of colorectal cancer (CRC) in untreated individuals. In contrast, APC c.3920T>A (I1307K) is a risk allele associated with an approximately 2-fold increased risk for CRC in individuals of Ashkenazi Jewish (AJ) ancestry.1,2,5

Ronit Almog October 2012 -

breast cancer Presenter APC I1307k allele and the risk of hepatocellular carcinoma Gruber S., Almog R., Low M., Rennert G. 2 2001 SER Toronto, Canada

COLON CANCER Analysis of candidate modifier loci for the

breast, bladder, and lung cancer. The CDH1 A2160C promoter polymorphism (table 1) may alter expression of E-cadherin and is therefore a plausible candidate modifier allele for FAP.31 Rare APC variants (I1307K and E1317Q) have been associated with a raised colon cancer risk but these alleles are too infrequent to account for much of the

Wnt/β-catenin signalling in ovarian cancer: Insights into its

that the I1307K missense mutation in the APC gene conferred a modest increase in the risk of hereditary and sporadic breast/ovarian cancer development through its association with BRCA1/2 mutations. Later analysis, however, concluded that, although there exists a high prevalence of I1307K mutation amongst BRCA1/2 car-


sporadic CRCs and normal controls. Our results showed that some APC variants other than I1307K could act as low-penetrance alleles for CRC, for example, the variant 3 UTR 8636C>A. This variant was found to have an increased CRC risk of around two fold-a risk comparable to that of I1307K-though the association studies had

1230 Letters to the Editor - CORE

gopan J, Wong N, Yang D, et al (1998) The APC I1307K allele and breast cancer risk. Nat Genet 20:13 14 Rhei E, Bogomolniy F, Federici MG, Maresco DL, Offit K, Robson ME, Saigo PE, et al (1998) Molecular genetic char-acterization of BRCA1- and BRCA2-linked hereditaryovar-ian cancers. Cancer Res 58:3193 3196 Struewing JP, Hartge P, Wacholder

If I had a gene test, what would I have and who would I tell?

remove the BRCA-related risk but the lifetime 10% risk of breast cancer, faced by every woman, remains. A valid reason for genetic testing is that not carrying the cancer gene mutation is a great relief for many people but survivor guilt sometimes occurs.

The frequency of founder mutations in the BRCA1 , BRCA2 , and

lence of the APC I1307K mutation (between 6.14% and 6.99%) has been found in Ashkenazi Jews.20,23 I1307K has been reported only in one family not known to be of Ashkenazi origin.24 This study was designed to determine the fre-quencies of four founder mutations in cancer predis-position genes in the Australian Ashkenazi population.

Clinical and screening implications of the I1307K adenomatous

Aug 24, 2001 agnosis. Those authors estimated an excess risk for colorectal neoplasia in I1307K carriers with an OR of 1.5 1.7 and that 3 4% of all Ashkenazi colorectal neo-plasia may be attributed to the I1307K APC variant. Drucker et al.5 found that their I1307K carrier Ash-kenazi patients with CRC were significantly more

American Society of Clinical Oncology Policy Statement Update

APC Colorectal adenocarcinoma 1/13,000 19 (L) Endoscopy, prophylactic colectomy RET Medullary thyroid cancer 1/200,000 125 (L) Prophylactic thyroidectomy Intermediate-penetrance mutations APC I1307K Colon cancer 6/100 (AJ) 1.5-1.7 (L) None proven CHEK2 1100delC Breast cancer 1/100-1/500 1.2-2.5 (L) None proven Low-penetrance variants (SNPs)

Sporadic desmoid tumor in an Ashkenazi patient homozygous for

Giardiello FM, et al. Familial colorectal cancer in Ashkena-zim due to a hypermutable tract in APC. Nat Genet 1997; / 17: /79 83. [2] Woodage T, King SM, Wacholder S, Hartge P, Struewing JP, McAdams M, et al. The APC I1307K allele and cancer risk in a community-based study of Ashkenazi Jews. Nat Genet 1998; /20: /62 5.

The Next in Next Generation Gene Sequencing Testing

If we can understand cancer genetics, we can: High-risk breast screening for BRCA1, BRCA2, CDH1, PTEN, STK11, and TP53. mutation carriers: Clinical breast exams more frequently Breast imaging with mammogram & breast MRI Initiate screening at a younger age Discuss the option of risk -reducing bilateral mastectomy with

Identification of Susceptibility Genes for Cancer in a Genome

tions have an increased risk for colon cancer.27 32 However, these relatively rare genes cannot explain the strong clustering of breast and colon cancer.24 We identified 33 families with a case of breast cancer in a FDR and 172 families in which there was an individual affected with breast cancer in either a FDR or second-degree rela-tive.

Research articleHow old is this mutation? - a study of three

in early-onset Ashkenazi Jewish breast cancer cases and families. Similarly, the mutation MSH2*1906 G->C leads to increased risk of colorectal cancer among Ashkenazi Jewish individuals [4], and the colorectal cancer-suscepti-bility allele APC I1307K appears to confer a relative risk of 1.5-2.0 for colorectal cancer (CRC) on carriers [5]. For

PubMed Included ID Year Title First Author Country Population

9973276 1999 Inherited colorectal polyposis and cancer risk of the APC I1307K polymorphism. Gryfe R Canada Ashkenazi Jewish, Canada APC 1 0 1 10362809 1999 Germline and somatic mutations of the STK11/LKB1 Peutz-Jeghers gene in pancreatic and biliary cancers. Su GH United States Dutch, Netherland STK11 1 0 0

Familial colorectal cancer: pathology and molecular

I1307K polymorphism in APCgene Mutations may not necessarily influence gene function. The I1307K mutation (T to A) in APC, found exclusively in Ashkenazi Jews, was once thought to be a harmless polymorphism, but it can predispose to familial colorectal cancer without a background of polyposis.21 The

The APC variants I1307K and E1317Q are associated with

missense variant of APC (3920T 3A; I1307K) has been described that confers an increased risk of colorectal tumors, suggested to be through an increased tendency to somatic mutation at the APC locus (7). This APC variant allele was observed in 6% of Ashkenazi controls, 10% of Ashkenazi colorectal cancer cases, and 28% of Ashkenazim colorectal


Jan 07, 2003 § Individuals who have breast or ovarian cancer and are from families with a high risk of BRCA1 or BRCA2 mutations. Families at high risk for harboring a BRCA1 or BRCA2 mutation are those in which the incidence of breast or ovarian cancer in first- or second-degree relatives suggests an autosomal dominant

Risk Assessment and Genetic Testing for Inherited

tions in APC, and biallelic mutations in MUTYH are found in an additional one-third of APC mutation nega-tive FAP cases.19 Of note, the APC I1307K variant is an increased risk allele commonly found in Ashkenazi Jewish individuals.20 While many genetic testing laboratories classify this variant as pathogenic, it does not cause a FAP