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Zpráva o onemocněních · Cancer
Whole genome sequencing evaluates all hereditary colorectal cancer genes, providing comprehensive assessment beyond single-syndrome testing. These include the Lynch syndrome genes (MLH1, MSH2, MSH6, PMS2, EPCAM), APC (FAP), MUTYH, SMAD4, BMPR1A, STK11, POLD1, and POLE.
Zpráva o onemocněních hledá vzácné varianty, o nichž je známo, že způsobují onemocnění, na něž se zpráva zaměřuje.
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Objednat s tarifem PremiumMalignant growths originating in the colon or rectum (colorectal cancer), often preceded by or associated with the presence of multiple polyps (polyposis) in these areas, some of which are precancerous.
Colorectal cancer (CRC) is the third most common cancer in the US (~153,000 new cases annually), with approximately 5-10% attributable to hereditary cancer syndromes. The most common hereditary CRC syndromes are Lynch syndrome (hereditary nonpolyposis CRC: MLH1, MSH2, MSH6, PMS2, EPCAM deletions; 50-80% lifetime CRC risk), familial adenomatous polyposis (FAP: APC; ~100% CRC risk without colectomy), attenuated FAP, and MUTYH-associated polyposis (MAP: biallelic MUTYH; 43-100% CRC risk). Rarer syndromes include Peutz-Jeghers (STK11), juvenile polyposis (SMAD4, BMPR1A), and polymerase proofreading-associated polyposis (POLD1, POLE).
Lynch syndrome is particularly important because of its therapeutic implications. Lynch-associated CRC is microsatellite-instable (MSI-high) due to defective DNA mismatch repair, and MSI-high tumors respond dramatically to immune checkpoint inhibitors. The KEYNOTE-177 trial demonstrated that first-line pembrolizumab (Keytruda) doubled progression-free survival in MSI-high/dMMR CRC compared to chemotherapy. The landmark study by Cercek et al. (2022) showed that dostarlimab produced 100% clinical complete response in dMMR rectal cancer, potentially eliminating the need for surgery and radiation. Germline Lynch diagnosis identifies patients eligible for these immunotherapy approaches.
Tumor testing in colorectal cancer also looks for acquired changes such as KRAS G12C, found in about 3-4% of colorectal cancers and treated with sotorasib or adagrasib combined with an anti-EGFR antibody. These changes arise in the tumor and are not inherited, so they are not part of this hereditary report, which looks at germline genes only.
Beyond treatment, hereditary CRC diagnosis transforms cancer screening. Lynch syndrome carriers begin colonoscopy at age 20-25 with 1-2 year intervals (vs. age 45 with 10-year intervals for average risk). FAP carriers require annual colonoscopy from age 10-12 with prophylactic colectomy recommended in the late teens or twenties. MUTYH carriers (biallelic) begin colonoscopy at age 25-30. These gene-specific screening protocols prevent CRC deaths by detecting precancerous polyps and early cancers, but they cannot be implemented without molecular diagnosis identifying the specific syndrome.
Dostarlimab produced 100% clinical complete response in dMMR rectal cancer in a landmark 2022 study, potentially eliminating surgery entirely. This remarkable result only applies to MMR-deficient tumors, most of which arise from Lynch syndrome germline mutations.
Any colorectal cancer in which the cause of the disease is a mutation in the GALNT12 gene.
Známé také jako
colorectal cancer caused by mutation in GALNT12; colorectal cancer, susceptibility to, type 1; CRCS1; GALNT12 colorectal cancer
Autozomálně dominantní
Any colorectal cancer in which the cause of the disease is a mutation in the POLE gene.
Analyzované geny
Známé také jako
colorectal cancer caused by mutation in POLE; colorectal cancer, susceptibility to, type 12; CRCS12; POLE colorectal cancer
Any colorectal cancer in which the cause of the disease is a mutation in the SMAD7 gene.
Známé také jako
colorectal cancer caused by mutation in SMAD7; colorectal cancer, susceptibility to, type 3; CRCS3; SMAD7 colorectal cancer
Autozomálně dominantní
A rare hereditary gastric cancer characterized by proximal gastric polyposis and increased risk of early-onset, intestinal-type adenocarcinoma of the gastric body, with no duodenal or colorectal polyposis. This is an n-of-1 use case where only one patient or family has been described with this disorder.
Analyzované geny
Známé také jako
APC-related gastric adenocarcinoma and proximal polyposis of the stomach; familial fundic gland polyposis with gastric cancer; fundic gland polyposis; GAPPS; polyposis of gastric fundus without polyposis coli; polyposis, gastric; polyposis, gastric, Dos Santos and de Magalhaes 1980
Autozomálně dominantní
Hundreds to thousands of colorectal adenomas with a near-certain risk of colorectal cancer without treatment; includes APC-related FAP and MUTYH-, NTHL1- and MSH3-related polyposis.
Známé také jako
classic or attenuated FAP
Zahrnuty jsou také specifické formy
Autozomálně dominantní
AXIN2 variants causing missing permanent teeth (oligodontia) together with colorectal polyps and an increased risk of colorectal cancer.
Co se diagnózou změní
Colonoscopy surveillance and dental care; relatives can be offered testing.
Analyzované geny
Známé také jako
autosomal dominant ectodermal dysplasia-cancer predisposition syndrome; ODCRCS; tooth agenesis-colorectal cancer syndrome
Lynch, FAP, and MUTYH each have different screening protocols, surgical thresholds, and treatment responses. This page serves as the comprehensive entry point for hereditary CRC genetic testing.
Pembrolizumab as first-line therapy for MSI-high CRC produces significantly better outcomes than chemotherapy. Germline Lynch testing simultaneously identifies the patient as a candidate for immunotherapy AND triggers cascade testing of family members, who may have Lynch syndrome and benefit from early colonoscopy screening that prevents CRC entirely. Without germline testing, the patient may receive only tumor MMR/MSI testing (if performed), missing the hereditary cancer counseling and family screening opportunity.
Classic FAP (truncating APC variants) produces hundreds to thousands of polyps by age 20 and near-100% CRC risk without colectomy; prophylactic surgery is typically performed in the late teens. Attenuated FAP (specific APC variant locations) produces fewer polyps with later onset and may be managed with intensive surveillance rather than early colectomy. MUTYH-associated polyposis is autosomal recessive (not dominant like FAP), has different recurrence risk for family members, and responds to celecoxib chemoprevention. Only molecular genotyping distinguishes these clinically similar but differently managed conditions.
Jedna souprava, zaslaná domů. Celý váš genom je sekvenován na klinickém standardu používaném pro diagnostická rozhodnutí. Zprávy připravené pro lékaře doručíme do vašeho Genome Manageru během 6–8 týdnů — trvale platné a průběžně aktualizované s vývojem vědy.
Doprava zdarma · Výsledky za 6–8 týdnů
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