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Zpráva o onemocněních · Cancer

BRCA1 and BRCA2

Whole genome sequencing identifies the specific inherited variants linked to BRCA1 and BRCA2 giving you and your physician the complete genetic picture to understand your actual risk and act on it.

Zpráva o onemocněních hledá vzácné varianty, o nichž je známo, že způsobují onemocnění, na něž se zpráva zaměřuje.

Součástí každé sady

Od 449 $Doprava zdarma · Výsledky za 6–8 týdnů

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O tomto condition

An inherited predisposition to breast and ovarian cancer, most often caused by variants in BRCA1 or BRCA2. Carriers also have a higher risk of prostate and pancreatic cancer.

BRCA1 and BRCA2 are tumor suppressor genes responsible for repairing DNA damage and controlling cell growth. Inherited pathogenic variants in either gene significantly increase lifetime risk of breast, ovarian, and several other cancers. The two genes are distinct in location and function, but both are disrupted by inherited variants that impair their DNA repair capability.

Approximately 1 in 400 people carry a BRCA pathogenic variant, but prevalence varies significantly by ancestry. Over 4,000 distinct pathogenic and likely-pathogenic variants have been identified across both genes, spanning diverse populations and ancestries. The three Ashkenazi Jewish founder mutations are the most commonly screened, but they represent a fraction of the total variant landscape.

Understanding your BRCA status has implications beyond individual risk. Because BRCA variants follow autosomal dominant inheritance, a confirmed finding has immediate, actionable implications for first-degree relatives. One result can reframe the genetic risk picture for an entire family.

BRCA variants span thousands of distinct mutations, each with different penetrance, each associated with different cancer types and risk profiles.

Všech 3 onemocnění, která analyzujeme

Hereditary Breast and Ovarian Cancer Syndrome

Autozomálně dominantní

A cancer predisposition syndrome, most often due to BRCA1 or BRCA2 variants, with high lifetime risks of breast and ovarian cancer.

Co se diagnózou změní

Genetic counseling, enhanced screening, risk-reducing surgery

Analyzované geny

Známé také jako

BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC); familial breast and ovarian cancer syndrome; familial breast/ovarian cancer (BRCA1, BRCA2); HBOC syndrome; hereditary breast and ovarian cancer; hereditary breast/ovarian cancer (BRCA1, BRCA2)

Zahrnuje 2 příbuzných podtypů ↓
  • breast-ovarian cancer, familial, susceptibility to, 1
  • breast-ovarian cancer, familial, susceptibility to, 2
MONDO:0003582Orphanet 145MedGen 151793

BRCA1-related cancer predisposition

Autozomálně dominantní

BRCA1 variants that raise the lifetime risk of breast, ovarian and other cancers.

Co se diagnózou změní

Enhanced breast screening including MRI, consideration of risk-reducing surgery, and testing of relatives.

Analyzované geny

Zahrnuje 2 příbuzných podtypů ↓
  • breast-ovarian cancer, familial, susceptibility to, 1
  • pancreatic cancer, susceptibility to, 4
MONDO:0700268

BRCA2-related cancer predisposition

Autozomálně dominantní

BRCA2 variants that raise the lifetime risk of breast, ovarian, prostate, pancreatic and other cancers.

Co se diagnózou změní

Enhanced breast screening including MRI, consideration of risk-reducing surgery, and testing of relatives.

Analyzované geny

Zahrnuje 3 příbuzných podtypů ↓
  • breast-ovarian cancer, familial, susceptibility to, 2
  • glioma susceptibility 3
  • pancreatic cancer, susceptibility to, 2
MONDO:0700269

Proč sekvenování celého genomu

Standard panels test a fixed list, missing more than half of patients with inherited mutations.

The gene causing your risk may not be on the panel

Standard hereditary cancer panels focus on the most commonly studied genes: BRCA1, BRCA2, and a defined list of Lynch syndrome genes. A Mayo Clinic study published in JAMA Oncology (Samadder et al.) found that standard testing guidelines missed more than half of patients with inherited cancer mutations. Whole genome sequencing reads every gene, every variant, across the full genome.

A finding changes the picture for your whole family

Hereditary cancer variants follow inheritance patterns. When a variant is identified, it carries implications for first-degree relatives who may carry the same mutation without knowing it. A single WGS result can trigger cascade testing across a family, converting one person's answer into a preventive opportunity for others.

Další cancer conditions

Všechny podmínky →

Jeden test. Odpovědi na celý život.

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.

Od 449 $

Doprava zdarma · Výsledky za 6–8 týdnů

Objednejte si Genome Test